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Sample records for primary congenital hydrocephalus

  1. Congenital Hydrocephalus.

    Science.gov (United States)

    Estey, Chelsie M

    2016-03-01

    There are several types of hydrocephalus, which are characterized based on the location of the cerebrospinal fluid (CSF) accumulation. Physical features of animals with congenital hydrocephalus may include a dome-shaped skull, persistent fontanelle, and bilateral ventrolateral strabismus. Medical therapy involves decreasing the production of CSF. The most common surgical treatment is placement of a ventriculoperitoneal shunt. Postoperative complications may include infection, blockage, drainage abnormalities, and mechanical failure. Copyright © 2016 Elsevier Inc. All rights reserved.

  2. Congenital hydrocephalus in clinical practice : A genetic diagnostic approach

    NARCIS (Netherlands)

    Verhagen, J. M. A.; Schrander-Stumpel, C. T. R. M.; Krapels, P. C.; de Die-Smulders, C. E. M.; van Lint, F. H. M.; Willekes, C.; Weber, J. W.; Gavilanes, A. W. D.; Macville, M. V. E.; Stegmann, A. P. A.; Engelen, J. J. M.; Bakker, J.; Vos, Y. J.; Frints, S. G. M.

    2011-01-01

    Congenital hydrocephalus is a common and often disabling disorder. The etiology is very heterogeneous. Little is known about the genetic causes of congenital hydrocephalus. A retrospective survey was performed including patients with primary congenital hydrocephalus referred to the Department of

  3. Congenital unilateral hydrocephalus - CT findings

    International Nuclear Information System (INIS)

    Schulman, H.; Landau, D.; Schulman, P.; Hertzanu, Y.

    2000-01-01

    Congenital unilateral hydrocephalus is extremely uncommon with 18 cases previously reported in the English literature. Two additional newborns with unilateral hydrocephalus are presented. The second baby also presented a mega cisterna magna. This unusual association between Dandy-Walker variant and unilateral hydrocephalus has not been previously reported. Following ventriculo-peritoneal shunt, the babies had a normal cognitive neurodevelopment. The role of cranial computed tomography (CT) in diagnosis and follow-up is emphasized

  4. Familial aggregation of congenital hydrocephalus in a nationwide cohort

    DEFF Research Database (Denmark)

    Munch, Tina Nørgaard; Rostgaard, Klaus; Rasmussen, Marie-Louise Hee

    2012-01-01

    The objective of the study was to investigate familial aggregation of primary congenital hydrocephalus in an unselected, nationwide population. Based on the Danish Central Person Register, we identified all children born in Denmark between 1978 and 2008 and their family members (up to third......-degree relatives). Information on primary congenital hydrocephalus was obtained from the National Patient Discharge Register. Using binomial log-linear regression, we estimated recurrence risk ratios of congenital hydrocephalus. An alternative log-linear regression model was applied to quantify the genetic effect...... and the maternal effect. Of 1 928 683 live-born children, 2194 had a diagnosis of idiopathic congenital hydrocephalus (1.1/1000). Of those, 75 (3.4%) had at least one other family member with primary congenital hydrocephalus. Significantly increased recurrence risk ratios of primary congenital hydrocephalus were...

  5. The genetic landscape of familial congenital hydrocephalus.

    Science.gov (United States)

    Shaheen, Ranad; Sebai, Mohammed Adeeb; Patel, Nisha; Ewida, Nour; Kurdi, Wesam; Altweijri, Ikhlass; Sogaty, Sameera; Almardawi, Elham; Seidahmed, Mohammed Zain; Alnemri, Abdulrahman; Madirevula, Sateesh; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Al-Sheddi, Tarfa; Alomar, Rana; Alobeid, Eman; Sallout, Bahauddin; AlBaqawi, Badi; AlAali, Wajeih; Ajaji, Nouf; Lesmana, Harry; Hopkin, Robert J; Dupuis, Lucie; Mendoza-Londono, Roberto; Al Rukban, Hadeel; Yoon, Grace; Faqeih, Eissa; Alkuraya, Fowzan S

    2017-06-01

    Congenital hydrocephalus is an important birth defect, the genetics of which remains incompletely understood. To date, only 4 genes are known to cause Mendelian diseases in which congenital hydrocephalus is the main or sole clinical feature, 2 X-linked (L1CAM and AP1S2) and 2 autosomal recessive (CCDC88C and MPDZ). In this study, we aimed to determine the genetic etiology of familial congenital hydrocephalus with the assumption that these cases represent Mendelian forms of the disease. Exome sequencing combined, where applicable, with positional mapping. We identified a likely causal mutation in the majority of these families (21 of 27, 78%), spanning 16 genes, none of which is X-linked. Ciliopathies and dystroglycanopathies were the most common etiologies of congenital hydrocephalus in our cohort (19% and 26%, respectively). In 1 family with 4 affected members, we identified a homozygous truncating variant in EML1, which we propose as a novel cause of congenital hydrocephalus in addition to its suggested role in cortical malformation. Similarly, we show that recessive mutations in WDR81, previously linked to cerebellar ataxia, mental retardation, and disequilibrium syndrome 2, cause severe congenital hydrocephalus. Furthermore, we confirm the previously reported candidacy of MPDZ by presenting a phenotypic spectrum of congenital hydrocephalus associated with 5 recessive alleles. Our study highlights the importance of recessive mutations in familial congenital hydrocephalus and expands the locus heterogeneity of this condition. Ann Neurol 2017;81:890-897. © 2017 American Neurological Association.

  6. Hydrocephalus

    Science.gov (United States)

    Hydrocephalus is the buildup of too much cerebrospinal fluid in the brain. Normally, this fluid cushions your ... though, it puts harmful pressure on your brain. Hydrocephalus can be congenital, or present at birth. Causes ...

  7. Prenatal diagnosis and perinatal management of congenital hydrocephalus using MRI

    International Nuclear Information System (INIS)

    Hamada, Hiromi; Koresawa, Mitsuhiko; Kubo, Takeshi

    1990-01-01

    We studied congenital hydrocephalus in 14 patients who were diagnosed prenatally. As a result, we obtained the following insights concerning the prenatal diagnosis by MRI (magnetic resonance imaging) and perinatal management of congenital hydrocephalus. Accurate diagnosis of congenital hydrocephalus was impossible prenatally by two-dimensional ultrasonography or computed tomography alone in some patients. MRI was useful for accurate prenatal diagnosis. Problem of MRI in prenatal diagnosis included deterioration of the image by fetal movements and safety concern over the fetus. The cause of hydrocephalus, complicated anomaly, cerebral cortical thickness, and gestational age must be considered in the perinatal management of congenital hydrocephalus. There appeared to be a chance of recovery to a certain extent from thinning of cerebral cortex by decompression in a patient in whom dilation of cerebral ventricles progressed rapidly. (author)

  8. Congenital intracerebral teratoma: a rare differential diagnosis in newborn hydrocephalus

    International Nuclear Information System (INIS)

    Storr, U.; Rupprecht, T.; Bornemann, A.; Ries, M.; Beinder, E.; Boewing, B.; Harms, D.

    1997-01-01

    Cogenital hydrocephalus is caused by a broad spectrum of underlying disorders. In the majority of cases it is due to aqueductal stenosis and other distinct congenital anomalies, like Arnold-Chiari malformation. Nevertheless, in the differential diagnosis rare conditions such as cerebral malignancies must also be considered. We present two cases of congenital intracerebral teratoma as a differential diagnosis in congenital obstructive hydrocephalus. A teratoma is suggested when a rapidly growing hydrocephalus with a central calcified and vascularized mass is found sonographically. Regular cerebral structures using cannot be detected. Early diagnosis in such cases is of clinical importance as the prognosis of congential intracerebral teratoma is generally very poor. (orig.)

  9. Congenital intracerebral teratoma: a rare differential diagnosis in newborn hydrocephalus

    Energy Technology Data Exchange (ETDEWEB)

    Storr, U. [Landratsamt Neuburg-Schrobenhausen, Gesundheitsamt, Neuburg an der Donau (Germany)]|[Hospital for Sick Children, Erlangen-Nuernberg Univ., Nuernberg (Germany); Rupprecht, T. [Hospital for Sick Children, Erlangen-Nuernberg Univ., Nuernberg (Germany); Bornemann, A. [Inst. for General Pathology, Erlangen-Nuernberg Univ., Nuernberg (Germany); Ries, M. [Hospital for Sick Children, Erlangen-Nuernberg Univ., Nuernberg (Germany); Beinder, E. [Dept. of Obstetrics and Gynecology, Erlangen-Nuernberg Univ., Nuernberg (Germany); Boewing, B. [Hospital for Sick Children, Erlangen-Nuernberg Univ., Nuernberg (Germany); Harms, D. [Hospital for Sick Children, Erlangen-Nuernberg Univ., Nuernberg (Germany)

    1997-03-01

    Cogenital hydrocephalus is caused by a broad spectrum of underlying disorders. In the majority of cases it is due to aqueductal stenosis and other distinct congenital anomalies, like Arnold-Chiari malformation. Nevertheless, in the differential diagnosis rare conditions such as cerebral malignancies must also be considered. We present two cases of congenital intracerebral teratoma as a differential diagnosis in congenital obstructive hydrocephalus. A teratoma is suggested when a rapidly growing hydrocephalus with a central calcified and vascularized mass is found sonographically. Regular cerebral structures using cannot be detected. Early diagnosis in such cases is of clinical importance as the prognosis of congential intracerebral teratoma is generally very poor. (orig.)

  10. Cerebrospinal fluid biomarkers of infantile congenital hydrocephalus

    Science.gov (United States)

    Limbrick, David D.; Baksh, Brandon; Morgan, Clinton D.; Habiyaremye, Gakwaya; McAllister, James P.; Inder, Terrie E.; Mercer, Deanna; Holtzman, David M.; Strahle, Jennifer; Wallendorf, Michael J.; Morales, Diego M.

    2017-01-01

    Introduction Hydrocephalus is a complex neurological disorder with a pervasive impact on the central nervous system. Previous work has demonstrated derangements in the biochemical profile of cerebrospinal fluid (CSF) in hydrocephalus, particularly in infants and children, in whom neurodevelopment is progressing in parallel with concomitant neurological injury. The objective of this study was to examine the CSF of children with congenital hydrocephalus (CHC) to gain insight into the pathophysiology of hydrocephalus and identify candidate biomarkers of CHC with potential diagnostic and therapeutic value. Methods CSF levels of amyloid precursor protein (APP) and derivative isoforms (sAPPα, sAPPβ, Aβ42), tau, phosphorylated tau (pTau), L1CAM, NCAM-1, aquaporin 4 (AQP4), and total protein (TP) were measured by ELISA in 20 children with CHC. Two comparative groups were included: age-matched controls and children with other neurological diseases. Demographic parameters, ventricular frontal-occipital horn ratio, associated brain malformations, genetic alterations, and surgical treatments were recorded. Logistic regression analysis and receiver operating characteristic curves were used to examine the association of each CSF protein with CHC. Results CSF levels of APP, sAPPα, sAPPβ, Aβ42, tau, pTau, L1CAM, and NCAM-1 but not AQP4 or TP were increased in untreated CHC. CSF TP and normalized L1CAM levels were associated with FOR in CHC subjects, while normalized CSF tau levels were associated with FOR in control subjects. Predictive ability for CHC was strongest for sAPPα, especially in subjects ≤12 months of age (p<0.0001 and AUC = 0.99), followed by normalized sAPPβ (p = 0.0001, AUC = 0.95), tau, APP, and L1CAM. Among subjects ≤12 months, a normalized CSF sAPPα cut-point of 0.41 provided the best prediction of CHC (odds ratio = 528, sensitivity = 0.94, specificity = 0.97); these infants were 32 times more likely to have CHC. Conclusions CSF proteins such as s

  11. Prenatal diagnosis of congenital unilateral hydrocephalus

    International Nuclear Information System (INIS)

    Koga, Yasutsugn; Tahara, Yasuo; Kida, Takeshi; Matumoto, Yoshinori; Negishi, Hiroaki; Fujimoto, Seiichiro

    1997-01-01

    A case is presented in which fetal unilateral hydrocephalus that had not been definitively diagnosed by ultrasonography was confirmed by means of magnetic resonance imaging. Computed tomography performed in the neonatal period after intraventricular injection of contrast medium showed stenosis of the foramen of Monro. (orig.). With 1 fig

  12. Giant unusual shaped chronic subdural hematoma in a patient with untreated congenital hydrocephalus

    OpenAIRE

    Mishra, Arvind; Ojha, Bal. K.; Chandra, Anil; Srivastava, Chhitij; Singh, Sunil Kumar

    2011-01-01

    Subdural hematoma is a well known complication of ventriculoperitoneal shunt insertion for hydrocephalus and usually spreads out over the cerebral convexity, and appears as a crescent shaped lesion on imaging. Chronic subdural hematoma in a case of untreated compensated congenital hydrocephalus has not been reported in English literature. We report the rare case of an adult with congenital hydrocephalus with a huge unusual shaped hemispheric subdural hematoma.

  13. Hydrocephalus

    Science.gov (United States)

    ... drowsiness, irritability, or other changes in personality or cognition including memory loss. Symptoms of normal pressure hydrocephalus ... example, if the symptoms of hydrocephalus return), medical attention should be sought immediately. top What is the ...

  14. Congenital hydrocephalus - prevalence, prenatal diagnosis and outcome of pregnancy in four European regions

    DEFF Research Database (Denmark)

    Garne, Ester; Loane, Maria; Addor, Marie-Claude

    2009-01-01

    OBJECTIVE: To describe prevalence, prenatal diagnosis and outcome for fetuses and infants with congenital hydrocephalus. METHODS: Data were taken from four European registries of congenital malformations (EUROCAT). The registries included are based on multiple sources of information and include...... defects were not included in the study. RESULTS: Eighty-seven cases with congenital hydrocephalus were identified during the study period giving an overall prevalence of 4.65 per 10,000 births. There were 41 livebirths (47%), four fetal deaths (5%) and 42 TOPFA (48%). Nine percent of all cases were from...

  15. Hydrocephalus

    International Nuclear Information System (INIS)

    Bradley, W.G.

    1990-01-01

    In benign external hydrocephalus, the increased pressure due to mild communicating hydrocephalus both increases ventricular size and increases the accumulation of fluid over the convexities in the subarachnoid space, shown in a six-month-old child. Since the sutures can separate in this age group, the extra-axial space represents an additional site of CSF accumulation. Atrophy is generally distinguishable from hydrocephalus by either CT or MRI on the basis of associated enlargement of the cortical sulci. When both are enlarged, ventricular enlargement out of proportion to sulcal enlargement is considered indicative of hydrocephalus

  16. An epidemiologic study of environmental and genetic factors in congenital hydrocephalus.

    Science.gov (United States)

    Stoll, C; Alembik, Y; Dott, B; Roth, M P

    1992-11-01

    Risk factors were studied in 96 children with congenital hydrocephalus (CH) coming from 118,265 consecutive births of known outcome. Hydrocephalus with neural tube defects, intracranial tumors or secondary to brain atrophy were excluded. The prevalence of CH was 0.81 per thousand. Diagnosis was performed prenatally in 41 cases. Forty-three (44.8%) of the cases had hydrocephalus without other malformations (isolated hydrocephalus), 18 (18.7%) infants had recognized chromosomal or non-chromosomal syndromes and 35 children (36.4%) had multiple malformations. Each case was matched to a control. Weight and length at birth of children with hydrocephalus were less than in the controls (p pregnancy with a hydrocephalic child was more often complicated by threatened abortion, polyhydramnios and oligohydramnios. The mothers of children with hydrocephalus and multiple malformations had used oral contraceptives during the first trimester of pregnancy more often than the mothers of the controls. No differences appeared between the mothers of children with CH and the controls for the other risk factors studied: parental age, parity, previous pregnancies, previous stillbirths, smoking, diabetes, epilepsy, X-rays, hypertension, fever "flu", medication and occupational exposure. There was an increase of parental consanguinity in the parents of our patients (6.2% v. 1.1%, p < 0.001) and first degree relatives had more non-cerebral malformations than the controls (7.3% v. 3.2%, p < 0.05).

  17. Hydrocephalus

    International Nuclear Information System (INIS)

    Gado, M.H.

    1987-01-01

    Both hydrocephalus and atrophy imply enlargement of cerebrospinal fluid (CSF) spaces; however, the management is totally different, and the two entities must be carefully differentiated from each other. The following topics are examined; (1) CSF dynamics. The main bulk of CSF production takes place in the lateral ventricles by the choroidal plexuses. Unidirectional flow of CSF brings it into basal cisterns and over cerebral hemispheres. The main bulk of CSF absorption occurs in the superior sagittal sinus via the arachnoid villi. (2) Classification by etiology increased production of CSF vs. obstruction to CSF flow. (3) The diagnosis of hydrocephaulus with CT or MR imaging. Signs of hydrocephalus include enlargement of the ventricles, sparing of sulci, ballooning of the temporal horns, periventricular edema, and progresssion with time. (4) The radiologic evaluation of results of shunt surgery

  18. William Watson Cheyne (1852-1932): a life in medicine and his innovative surgical treatment of congenital hydrocephalus.

    Science.gov (United States)

    Watson, Caroline C; Griessenauer, Christoph J; Loukas, Marios; Blount, Jeffrey P; Tubbs, R Shane

    2013-11-01

    William Watson Cheyne lived and trained during a period of great advances in medical knowledge and surgical techniques. Despite his various contributions to the fields of bacteriology and surgery, little is known about his career or his life apart from his affiliations with Joseph Lister. This article aims to identify Cheyne as a pioneer in the treatment of congenital hydrocephalus and sheds light on the man who existed in Lister's shadow for most of his life. Cheyne's technique for surgical intervention of hydrocephalus was a great turning point and contributes to the current treatment strategy utilized today for hydrocephalus.

  19. Congenital hydrocephalus and abnormal subcommissural organ development in Sox3 transgenic mice.

    Directory of Open Access Journals (Sweden)

    Kristie Lee

    Full Text Available Congenital hydrocephalus (CH is a life-threatening medical condition in which excessive accumulation of CSF leads to ventricular expansion and increased intracranial pressure. Stenosis (blockage of the Sylvian aqueduct (Aq; the narrow passageway that connects the third and fourth ventricles is a common form of CH in humans, although the genetic basis of this condition is unknown. Mouse models of CH indicate that Aq stenosis is associated with abnormal development of the subcommmissural organ (SCO a small secretory organ located at the dorsal midline of the caudal diencephalon. Glycoproteins secreted by the SCO generate Reissner's fibre (RF, a thread-like structure that descends into the Aq and is thought to maintain its patency. However, despite the importance of SCO function in CSF homeostasis, the genetic program that controls SCO development is poorly understood. Here, we show that the X-linked transcription factor SOX3 is expressed in the murine SCO throughout its development and in the mature organ. Importantly, overexpression of Sox3 in the dorsal diencephalic midline of transgenic mice induces CH via a dose-dependent mechanism. Histological, gene expression and cellular proliferation studies indicate that Sox3 overexpression disrupts the development of the SCO primordium through inhibition of diencephalic roof plate identity without inducing programmed cell death. This study provides further evidence that SCO function is essential for the prevention of hydrocephalus and indicates that overexpression of Sox3 in the dorsal midline alters progenitor cell differentiation in a dose-dependent manner.

  20. DTI study of Children with Congenital Hydrocephalus: 1 Year Post-Surgical Outcomes

    Science.gov (United States)

    Mangano, Francesco T.; Altaye, Mekibib; McKinstry, Robert C.; Shimony, Joshua S.; Powell, Stephanie K.; Phillips, Jannel M.; Barnard, Holly; Limbrick, David D.; Holland, Scott K.; Jones, Blaise V.; Dodd, Jonathon; Simpson, Sarah; Deanna, Mercer; Rajagopal, Akila; Bidwell, Sarah; Yuan, Weihong

    2016-01-01

    Object To investigate white matter structural abnormalities using diffusion tensor imaging (DTI) in children with hydrocephalus before CSF diversionary surgery (including ventriculoperitoneal shunting and endoscopic third ventriculoscopy) and the course of recovery post-surgery in association with neuropsychological and behavioral outcome. Methods This was a prospective study that included 54 children with congenital hydrocephalus (21F/33M; age range: 0.03–194.5 months) who underwent surgery and 64 normal controls (30F/34M, age range: 0.30–197.75 months). DTI and neurodevelopmental outcome data were collected once in the control group and at pre-surgery, 3-month, and 12-month post-surgery in the patients. DTI measures, including fractional anisotropy (FA), mean diffusivity (MD), axial diffusivity (AD), and radial diffusivity (RD) values were extracted from the genu of corpus callosum (gCC) and the posterior limb of internal capsule (PLIC). Group analysis was performed first cross-sectionally to quantify DTI abnormalities at three time points by comparing the controls and the patients group at the three time points separately. Longitudinal comparisons were conducted pairwise between different time points in patients whose data were acquired at multiple time points. Neurodevelopmental data were collected and analyzed using the Adaptive Behavior Assessment System, Second Edition (ABAS-II) and the Bayley Scales of Infant Development, Third Edition (Bayley-III). Correlation analyses were performed between DTI and behavioral outcomes. Results Significant DTI abnormalities were found in both the gCC (lower FA and higher MD, AD, and RD) and the PLIC (higher FA, lower AD and RD) at pre-surgery. The DTI measures in the gCC remained mostly abnormal at 3-month and 12-month post-surgery. The DTI abnormalities in the PLIC were significant in FA and AD at 3-month post-surgery but did nor persist when tested at 12-month post-surgery. Significant longitudinal DTI changes in the

  1. Etiological evaluation of primary congenital hypothyroidism cases.

    Science.gov (United States)

    Bezen, Diğdem; Dilek, Emine; Torun, Neşe; Tütüncüler, Filiz

    2017-06-01

    Primary congenital hypothyroidism is frequently seen endocrine disorder and one of the preventable cause of mental retardation. Aim of study was to evaluate the frequency of permanent/transient hypothyrodism, and to detect underlying reason to identfy any marker which carries potential to discriminate permanent/transient form. Forty eight cases older than 3 years of age, diagnosed as primary congenital hypothyroidism and started thyroxin therapy in newborn-period, and followed up between January 2007-June 2013 were included in the study. Thyroid hormon levels were evaluated and thyroid ultrasonography was performed in cases who are at the end of their 3 years of age, after 6 weeks of thyroxine free period. Thyroid sintigraphy was performed if serum thyroid-stimulating hormone was high (≥ 5 mIU/mL) and perchlorate discharge test was performed if uptake was normal or increased on sintigraphy. Cases with thyroid-stimulating hormone levels ≥ 5 mIU/mL were defined as permanent primary congenital hypothyroidism group and as transient primary congenital hypothyroidism group with normal thyroid hormones during 6 months. The mean age was 3.8±0.7 years. Mean diagnosis age was 16.6±6.5 days and 14 cases (29.2%) were diagnosed by screening program of Ministry of Health. There were 23 cases (14F, 9M) in permanent primary congenital hypothyroidism group and 12 (52.2%) of them were dysgenesis (8 hypoplasia, 4 ectopia), and 11 (47.8%) dyshormonogenesis. In transient primary congenital hypothyroidism group, there were 25 cases (17M, 8F). The mean thyroid-stimulating hormone levels at diagnosis were similar in two groups. The mean thyroxin dose in permanent primary congenital hypothyroidism group was significantly higher than transient group at the time of thyroxin cessation (2.1±0.7, 1.5±0.5 mg/kg/d, respectively, p=0.004). Thyroxin dose ≥1.6 mcg/kg/d was 72% sensitive and 69.6% specific for predicting permenant primary congenital hypothyroidism. Transient primary

  2. Dusp16 Deficiency Causes Congenital Obstructive Hydrocephalus and Brain Overgrowth by Expansion of the Neural Progenitor Pool

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    Ksenija Zega

    2017-11-01

    Full Text Available Hydrocephalus can occur in children alone or in combination with other neurodevelopmental disorders that are often associated with brain overgrowth. Despite the severity of these disorders, the molecular and cellular mechanisms underlying these pathologies and their comorbidity are poorly understood. Here, we studied the consequences of genetically inactivating in mice dual-specificity phosphatase 16 (Dusp16, which is known to negatively regulate mitogen-activated protein kinases (MAPKs and which has never previously been implicated in brain development and disorders. Mouse mutants lacking a functional Dusp16 gene (Dusp16−/− developed fully-penetrant congenital obstructive hydrocephalus together with brain overgrowth. The midbrain aqueduct in Dusp16−/− mutants was obstructed during mid-gestation by an expansion of neural progenitors, and during later gestational stages by neurons resulting in a blockage of cerebrospinal fluid (CSF outflow. In contrast, the roof plate and ependymal cells developed normally. We identified a delayed cell cycle exit of neural progenitors in Dusp16−/− mutants as a cause of progenitor overproliferation during mid-gestation. At later gestational stages, this expanded neural progenitor pool generated an increased number of neurons associated with enlarged brain volume. Taken together, we found that Dusp16 plays a critical role in neurogenesis by balancing neural progenitor cell proliferation and neural differentiation. Moreover our results suggest that a lack of functional Dusp16 could play a central role in the molecular mechanisms linking brain overgrowth and hydrocephalus.

  3. Fluid Distribution Pattern in Adult-Onset Congenital, Idiopathic, and Secondary Normal-Pressure Hydrocephalus: Implications for Clinical Care.

    Science.gov (United States)

    Yamada, Shigeki; Ishikawa, Masatsune; Yamamoto, Kazuo

    2017-01-01

    In spite of growing evidence of idiopathic normal-pressure hydrocephalus (NPH), a viewpoint about clinical care for idiopathic NPH is still controversial. A continuous divergence of viewpoints might be due to confusing classifications of idiopathic and adult-onset congenital NPH. To elucidate the classification of NPH, we propose that adult-onset congenital NPH should be explicitly distinguished from idiopathic and secondary NPH. On the basis of conventional CT scan or MRI, idiopathic NPH was defined as narrow sulci at the high convexity in concurrent with enlargement of the ventricles, basal cistern and Sylvian fissure, whereas adult-onset congenital NPH was defined as huge ventricles without high-convexity tightness. We compared clinical characteristics and cerebrospinal fluid distribution among 85 patients diagnosed with idiopathic NPH, 17 patients with secondary NPH, and 7 patients with adult-onset congenital NPH. All patients underwent 3-T MRI examinations and tap-tests. The volumes of ventricles and subarachnoid spaces were measured using a 3D workstation based on T2-weighted 3D sequences. The mean intracranial volume for the patients with adult-onset congenital NPH was almost 100 mL larger than the volumes for patients with idiopathic and secondary NPH. Compared with the patients with idiopathic or secondary NPH, patients with adult-onset congenital NPH exhibited larger ventricles but normal sized subarachnoid spaces. The mean volume ratio of the high-convexity subarachnoid space was significantly less in idiopathic NPH than in adult-onset congenital NPH, whereas the mean volume ratio of the basal cistern and Sylvian fissure in idiopathic NPH was >2 times larger than that in adult-onset congenital NPH. The symptoms of gait disturbance, cognitive impairment, and urinary incontinence in patients with adult-onset congenital NPH tended to progress more slowly compared to their progress in patients with idiopathic NPH. Cerebrospinal fluid distributions and

  4. Genetics of Primary Congenital Hypothyroidism

    NARCIS (Netherlands)

    Zwaveling-Soonawala, Nitash; van Trotsenburg, Paul

    2018-01-01

    Congenital hypothyroidism (CH) is one of the most common preventable forms of mental retardation and since the implementation of neonatal screening programs in the mid-1970s, early detection and treatment have proven to be very successful in preventing brain damage. CH may be of thyroidal (=

  5. A pilot study using residual newborn dried blood spots to assess the potential role of cytomegalovirus and Toxoplasma gondii in the etiology of congenital hydrocephalus.

    Science.gov (United States)

    Simeone, Regina M; Rasmussen, Sonja A; Mei, Joanne V; Dollard, Sheila C; Frias, Jaime L; Shaw, Gary M; Canfield, Mark A; Meyer, Robert E; Jones, Jeffrey L; Lorey, Fred; Honein, Margaret A

    2013-07-01

    Congenital hydrocephalus is a condition characterized by accumulation of cerebrospinal fluid in the ventricles of the brain. Prenatal infections are risk factors for some birth defects. This pilot study investigated whether residual dried blood spots (DBS) could be used to assess infections as risk factors for birth defects by examining the associations between prenatal infection with Toxoplasma gondii (T. gondii) or cytomegalovirus (CMV) with congenital hydrocephalus. Case-infants with hydrocephalus (N=410) were identified among live-born infants using birth defects surveillance systems in California, North Carolina, and Texas. Control-infants without birth defects were randomly selected from the same geographic areas and time periods as case-infants (N=448). We tested residual DBS from case- and control-infants for T. gondii immunoglobulin M and CMV DNA. When possible, we calculated crude odds ratios (cORs) and confidence intervals (CIs). Evidence for prenatal T. gondii infection was more common among case-infants (1.2%) than control-infants (0%; p=0.11), and evidence for prenatal CMV infection was higher among case-infants (1.5%) than control-infants (0.7%; cOR: 2.3; 95% CI: 0.48, 13.99). Prenatal infections with T. gondii and CMV occurred more often among infants with congenital hydrocephalus than control-infants, although differences were not statistically significant. This pilot study highlighted some challenges in using DBS to examine associations between certain infections and birth defects, particularly related to reduced sensitivity and specimen storage conditions. Further study with increased numbers of specimens and higher quality specimens should be considered to understand better the contribution of these infections to the occurrence of congenital hydrocephalus. Copyright © 2013 Wiley Periodicals, Inc.

  6. Neurolues congênita associada a hidrocefalia Congenital neurosyphilis associated with hydrocephalus

    Directory of Open Access Journals (Sweden)

    Julinho Aisen

    1970-09-01

    Full Text Available É apresentado um caso de neurolues congênita (meningovascular e parenquimatosa associada a hidrocefalia do tipo bloqueado. A natureza luética da afecção foi confirmada por exames paraclínicos e histopatológico. O registro do caso se justifica pelo fato da não existência na literatura compulsada de outro semelhante comprovado histopatològicamente. A hidrocefalia ocorreu em conseqüência do bloqueio do sistema ventricular pelo processo inflamatório de natureza crônica.A case of meningovascular and parenchymatous neurosyphilis associated with a non-communicating hydrocephalus is reported. The syphilitic nature of the disease was confirmed by laboratory and histopathological findings. The authors were unable to find in the medical literature other reports of histologically documented cases of hydrocephalus secondary to a block of the ventricular system determined by neurosyphilis.

  7. Anoftalmia clínica bilateral associada à hidrocefalia congênita em cão Bilateral clinical anophthalmia associated with congenital hydrocephalus in the dog

    Directory of Open Access Journals (Sweden)

    Mariana Isa Poci Palumbo

    2011-07-01

    Full Text Available A ausência completa do bulbo ocular é muito rara em cães e gatos, enquanto a hidrocefalia é comumente observada como distúrbio congênito em cães de raças miniatura ou braquicefálicas, com menos de um ano de idade. O presente trabalho relata a ocorrência de anoftalmia clínica bilateral associada à hidrocefalia congênita em um cão da raça poodle, sendo este o primeiro relato de caso da associação dessas alterações no Brasil.The complete absence of the eyeball is rare in dogs and cats, and hydrocephalus is commonly seen as a congenital disorder in toy or brachycephalic dogs before one year old. This paper describes for the first time in Brazil the occurrence of bilateral clinical anophthalmia associated to congenital hydrocephalus in a dog.

  8. Genetics of human hydrocephalus

    Science.gov (United States)

    Williams, Michael A.; Rigamonti, Daniele

    2006-01-01

    Human hydrocephalus is a common medical condition that is characterized by abnormalities in the flow or resorption of cerebrospinal fluid (CSF), resulting in ventricular dilatation. Human hydrocephalus can be classified into two clinical forms, congenital and acquired. Hydrocephalus is one of the complex and multifactorial neurological disorders. A growing body of evidence indicates that genetic factors play a major role in the pathogenesis of hydrocephalus. An understanding of the genetic components and mechanism of this complex disorder may offer us significant insights into the molecular etiology of impaired brain development and an accumulation of the cerebrospinal fluid in cerebral compartments during the pathogenesis of hydrocephalus. Genetic studies in animal models have started to open the way for understanding the underlying pathology of hydrocephalus. At least 43 mutants/loci linked to hereditary hydrocephalus have been identified in animal models and humans. Up to date, 9 genes associated with hydrocephalus have been identified in animal models. In contrast, only one such gene has been identified in humans. Most of known hydrocephalus gene products are the important cytokines, growth factors or related molecules in the cellular signal pathways during early brain development. The current molecular genetic evidence from animal models indicate that in the early development stage, impaired and abnormal brain development caused by abnormal cellular signaling and functioning, all these cellular and developmental events would eventually lead to the congenital hydrocephalus. Owing to our very primitive knowledge of the genetics and molecular pathogenesis of human hydrocephalus, it is difficult to evaluate whether data gained from animal models can be extrapolated to humans. Initiation of a large population genetics study in humans will certainly provide invaluable information about the molecular and cellular etiology and the developmental mechanisms of human

  9. Congenital spinal tumor in a patient with encephalocele and hydrocephalus: a case report

    Directory of Open Access Journals (Sweden)

    Mahjoub Fatemeh

    2011-01-01

    Full Text Available Abstract Introduction Encephalocele is a rare congenital abnormality of the central nervous system, where brain tissue protrudes from a defect in the skull. Some anomalies are associated with encephalocele. However, the association of spinal teratoma and encephalocele has not been reported in the English literature. Case presentation We report the case of an Iranian girl with a history of encephalocele surgery, who, at the age of four years, developed an intramedullary spinal teratoma, and discuss the pathogenesis of this association. Conclusion To the best of our knowledge, this is the first report of an association between encephalocele and spinal teratoma.

  10. Congenital hydrocephalus following X-irradiation of pregnant rats on an early gestational day

    International Nuclear Information System (INIS)

    Takeuchi, I.K.; Takeuchi, Y.K.

    1986-01-01

    When pregnant rats were X-irradiated at a dose of 100 R on gestational day 9.5, a considerable number of postnatally-viable hydrocephalic offspring resulted, all of which were accompanied with bilateral micro- or anophthalmia. Histological studies revealed that the cerebral aqueduct of the congenital hydrocephalic brain was severely stenosed, and the subcommissural organ was reduced in size and displaced at some distance from the anterior end of the cerebral aqueduct. From embryological studies, it was considered that the maldevelopment of the subcommissural organ in the X-irradiated fetus might cause a reduction in the amount of its secretions which function as a cushion preventing complete closure of the cerebral aqueduct during fetal life, resulting in stenosis of the cerebral aqueduct

  11. Normal pressure hydrocephalus

    Science.gov (United States)

    Hydrocephalus - occult; Hydrocephalus - idiopathic; Hydrocephalus - adult; Hydrocephalus - communicating; Dementia - hydrocephalus; NPH ... Ferri FF. Normal pressure hydrocephalus. In: Ferri FF, ed. ... Elsevier; 2016:chap 648. Rosenberg GA. Brain edema and disorders ...

  12. Newborn screening for classic galactosemia and primary congenital ...

    African Journals Online (AJOL)

    Objectives. The main objective of this work was to establish the incidence of classic galactosaemia and primary congenital hypothyroidism in newborns in the Nkangala district of Mpumalanga. In the process a cost-effective protocol for neonatal screening of both diseases was developed. Study design and setting.

  13. Neurosonography of hydrocephalus in infants

    International Nuclear Information System (INIS)

    Shackelford, G.D.

    1986-01-01

    Transfontanel cranial ultrasonography reliably delineates ventricular size and anatomy in small infants. In these children, it is an excellent primary imaging technique for evaluation of the many clinical problems related to ventricular dilatation. Sonography can be useful for: detecting ventriculomegaly, differentiating nonobstructive ventricular dilatation from obstructive enlargement (hydrocephalus), determining the cause of hydrocephalus; aiding in the temporary management of patients with hydrocephalus; and aiding in the management of patients with permanent ventricular shunts. (orig.)

  14. Brain MRI findings in infants with primary congenital glaucoma

    International Nuclear Information System (INIS)

    Dai, A. Ibrahym; Saygili, O.

    2007-01-01

    Congenital glaucoma appears in the first months of life, eventually at birth. Isolated congenital glaucoma is characterized by minor malformations of the irido-corneal angle of the anterior chamber of the eye. Clinical manifestations include tearing, photophobia and enlargement of the globe appearing in the first months of life. Imaging technology such as optical coherence tomography and measurement of central corneal thickness may play an important role in the assessment of children with suspected or known glaucoma. However, no MRI findings of the CNS in patients with primary congenital glaucoma (PCG) were reported in the literature. The purpose of this study was to investigate MRI findings of the brain in infants with PCG. We reviewed the radiological and histopathological and clinical characteristics of infants with primary congenital glaucoma. The records of 17 patients with PCG were reviewed and the MRIs of the brain and associated manifestations were analyzed. Three patients with PCG had abnormal MRI findings suggesting agenesis of the corpus callosum. Two infants had delayed myelinization of the brain. Significant abnormal optic nerve excavation and increased corneal diameters in 2 patients with delayed myelinization may suggest that intraocular pressure can be more striking and more severe, revealing a close relationship with PCG and abnormal myelinization in white matter. Studies with more patients are needed to confirm these results. (author)

  15. Combined trabeculotomy and augmented trabeculectomy in primary congenital glaucoma

    International Nuclear Information System (INIS)

    Shakir, M.; Bukhari, A.; Kamil, Z.; Zafar, S.

    2013-01-01

    Objective: To evaluate the results of combined trabeculotomy and augmented trabeculectomy as a primary procedure on intraocular pressure and corneal clarity in uncomplicated congenital glaucoma. Study Design: A case series. Place and Duration of Study: L.R.B.T Free Base Eye Hospital, Karachi, from January 2007 to December 2010. Methodology: Twenty eyes of 14 consecutive children with primary congenital glaucoma who had primary trabeculotomy and augmented trabeculectomy were observed from January 2007 to December 2010 at LRBT Free Base Eye Hospital, Karachi. Main outcome measures were pre-operative and postoperative intraocular pressure, corneal clarity and complications. Results: Out of 14 patients, 9 patients (64.2%) were male and 5 patients (35.7%) were female with age ranging between 5 months to 6 years. Mean duration of follow-up was 8.25 months. Seventeen eyes (85%) showed improvement in corneal clarity from baseline at their last follow-up. Mean intraocular pressure decreased from 32 +- 2.5 mmHg pre-operatively to 13 +- 2.5 mmHg postoperatively at the last follow-up (p < 0.001). Complete success (intraocular pressure < 20 mmHg) was obtained in 16 (80%) out of 20 eyes. Complications encountered were vitreous loss per-operatively while performing iridectomy in 1 eye (5%), shallow anterior chamber on the first postoperative day in 1 eye (5%) and hyphema in 1 eye (5%). Conclusion: Combined trabeculotomy and augmented trabeculectomy for primary congenital glaucoma resulted in improvement in reduction of intraocular pressure as well as improvement in corneal clarity. Hence, combined trabeculotomy and augmented trabeculectomy is a safe and effective procedure for primary congenital glaucoma. (author)

  16. Normal Pressure Hydrocephalus (NPH)

    Science.gov (United States)

    ... local chapter Join our online community Normal Pressure Hydrocephalus (NPH) Normal pressure hydrocephalus is a brain disorder ... Symptoms Diagnosis Causes & risks Treatments About Normal Pressure Hydrocephalus Normal pressure hydrocephalus occurs when excess cerebrospinal fluid ...

  17. Two types of congenital hydrocephalus induced in rats by X-irradiation in utero: electron microscopic study on the telencephalic wall

    International Nuclear Information System (INIS)

    Takeuchi, I.K.; Murakami, U.

    1979-01-01

    Stage-specific incidences of congenital hydrocephalus induced by X-irradiation of pregnant rats showed a bimodal distribution. At a dose level of 200 R, 100% hydrocephalic offspring were obtained by irradiation at embryonic days 11 and 14. When pregnant rats were subjected to 200 R X-irradiation at embryonic day 11, numerous ventricular cells of the telencephalic wall of the embryo became necrotic during the first 2 hours post-irradiation, but the paraventricular cell-to-cell interconnexions made up of zonulae adhaerentes were less affected. Mitosis took place in the surviving paraventricular surface cells throughout subsequent development. The full-term fetus exhibited little change in the cytoarchitectural arrangement of neural cells and neuropils, although it was only about half the thickness of the untreated control. After 200 R X-irradiation at embryonic day 14, most of the ventricular cells became necrotic within 6 hours. The paraventricular cell-to-cell interconnexions were completely destroyed, and never repaired in subsequent development. Mitosis took place either freely in cell clusters, or in rosettes which formed randomly in the telencephalic wall between 48 and 72 hours post-irradiation. The resulting telencephalic wall of the full-term fetus was also about half the thickness of the control. In the outer part of the tissue, the cortical plate made up of differentiating neuroblasts was hypoplastic, but the inner half was filled with numerous heterotopic masses of pleomorphic cells and bundles of primitive axons. The ependymal layer at the paraventricular surface was never formed. Whether the paraventricular zonulae adhaerentes were destroyed or not by X-irradiation was considered to be an important factor in the determination of the subsequent cytoarchitectural organization of the telencephalic wall. (author)

  18. HYDROCEPHALUS IN THREE JUVENILE NORTH AMERICAN BLACK BEARS (URSUS AMERICANUS).

    Science.gov (United States)

    Ferguson, Sylvia H; Novak, Janelle; Hecht, Silke; Craig, Linden E

    2016-06-01

    Hydrocephalus has been reported in a variety of species, including the North American black bear ( Ursus americanus ). This report describes three cases of hydrocephalus in this species from wild bears aged 3-4 mo considered retrospectively from necropsy records of one institution. Clinical signs included cortical blindness and ataxia. Primary gross findings were doming of the skull, gyri compression and flattening, and lateral ventricle dilation. Two cases had severe bilateral ventricular dilation with loss of the septum pellucidum; atrophy of the surrounding corpus callosum; and bilateral periventricular tears involving the caudate nuclei, internal capsule, and adjacent cerebrum. Histologically, the cases with periventricular tearing had severe axonal loss and degeneration, malacia, hemorrhage, and variable periventricular astrocytosis. All cases were likely congenital, given the bears' age and lack of an apparent acquired obstruction.

  19. Persistent hyperplastic primary vitreous: congenital malformation of the eye.

    Science.gov (United States)

    Shastry, Barkur S

    2009-12-01

    Persistent hyperplastic primary vitreous (PHPV), also known as persistent fetal vasculature, is a rare congenital developmental malformation of the eye, caused by the failure of regression of the primary vitreous. It is divided into anterior and posterior types and is characterized by the presence of a vascular membrane located behind the lens. The condition can be of an isolated type or can occur with other ocular disorders. Most cases of PHPV are sporadic, but it can be inherited as an autosomal dominant or recessive trait. Inherited PHPV also occurs in several breeds of dogs and cats. In a limited number of cases, Norrie disease and FZD4 genes are found to be mutated in unilateral and bilateral PHPV. These genes when mutated also cause Norrie disease pseudoglioma and familial exudative vitreoretinopathy that share some of the clinical features with PHPV. Mice lacking arf and p53 tumour suppressor genes as well as Norrie disease pseudoglioma and LRP5 genes suggest that these genes are needed for hyaloid vascular regression. These experiments also indicate that abnormalities in normal apoptosis and defects in Wnt signalling pathway may be responsible for the pathogenesis of PHPV. Identification of other candidate genes in the future may provide a better understanding of the pathogenesis of the condition that may lead to a better therapeutic approach and better management.

  20. Lower rates of symptom recurrence and surgical revision after primary compared with secondary endoscopic third ventriculostomy for obstructive hydrocephalus secondary to aqueductal stenosis in adults.

    Science.gov (United States)

    Sankey, Eric W; Goodwin, C Rory; Jusué-Torres, Ignacio; Elder, Benjamin D; Hoffberger, Jamie; Lu, Jennifer; Blitz, Ari M; Rigamonti, Daniele

    2016-05-01

    OBJECT Endoscopic third ventriculostomy (ETV) is the treatment of choice for obstructive hydrocephalus; however, the success of ETV in patients who have previously undergone shunt placement remains unclear. The present study analyzed 103 adult patients with aqueductal stenosis who underwent ETV for obstructive hydrocephalus and evaluated the effect of previous shunt placement on post-ETV outcomes. METHODS This study was a retrospective review of 151 consecutive patients who were treated between 2007 and 2013 with ETV for hydrocephalus. One hundred three (68.2%) patients with aqueductal stenosis causing obstructive hydrocephalus were included in the analysis. Postoperative ETV patency and aqueductal and cisternal flow were assessed by high-resolution, gradient-echo MRI. Post-ETV Mini-Mental State Examination, Timed Up and Go, and Tinetti scores were compared with preoperative values. Univariate and multivariate analyses were performed comparing the post-ETV outcomes in patients who underwent a primary (no previous shunt) ETV (n = 64) versus secondary (previous shunt) ETV (n = 39). RESULTS The majority of patients showed significant improvement in symptoms after ETV; however, no significant differences were seen in any of the quantitative tests performed during follow-up. Symptom recurrence occurred in 29 (28.2%) patients after ETV, after a median of 3.0 (interquartile range 0.8-8.0) months post-ETV failure. Twenty-seven (26.2%) patients required surgical revision after their initial ETV. Patients who received a secondary ETV had higher rates of symptom recurrence (p = 0.003) and surgical revision (p = 0.003), particularly in regard to additional shunt placement/revision post-ETV (p = 0.005). These differences remained significant after multivariate analysis for both symptom recurrence (p = 0.030) and surgical revision (p = 0.043). CONCLUSIONS Patients with obstructive hydrocephalus due to aqueductal stenosis exhibit symptomatic improvement after ETV, with a

  1. Hydrocephalus due to multiple ependymal malformations is caused by mutations in the MPDZ gene.

    Science.gov (United States)

    Saugier-Veber, Pascale; Marguet, Florent; Lecoquierre, François; Adle-Biassette, Homa; Guimiot, Fabien; Cipriani, Sara; Patrier, Sophie; Brasseur-Daudruy, Marie; Goldenberg, Alice; Layet, Valérie; Capri, Yline; Gérard, Marion; Frébourg, Thierry; Laquerrière, Annie

    2017-05-01

    Congenital hydrocephalus is considered as either acquired due to haemorrhage, infection or neoplasia or as of developmental nature and is divided into two subgroups, communicating and obstructive. Congenital hydrocephalus is either syndromic or non-syndromic, and in the latter no cause is found in more than half of the patients. In patients with isolated hydrocephalus, L1CAM mutations represent the most common aetiology. More recently, a founder mutation has also been reported in the MPDZ gene in foetuses presenting massive hydrocephalus, but the neuropathology remains unknown. We describe here three novel homozygous null mutations in the MPDZ gene in foetuses whose post-mortem examination has revealed a homogeneous phenotype characterized by multiple ependymal malformations along the aqueduct of Sylvius, the third and fourth ventricles as well as the central canal of the medulla, consisting in multifocal rosettes with immature cell accumulation in the vicinity of ependymal lining early detached from the ventricular zone. MPDZ also named MUPP1 is an essential component of tight junctions which are expressed from early brain development in the choroid plexuses and ependyma. Alterations in the formation of tight junctions within the ependyma very likely account for the lesions observed and highlight for the first time that primary multifocal ependymal malformations of the ventricular system is genetically determined in humans. Therefore, MPDZ sequencing should be performed when neuropathological examination reveals multifocal ependymal rosette formation within the aqueduct of Sylvius, of the third and fourth ventricles and of the central canal of the medulla.

  2. Risk factors for congenital hydrocephalus

    DEFF Research Database (Denmark)

    Munch, Tina Noergaard; Rasmussen, Marie-Louise Hee; Wohlfahrt, Jan

    2014-01-01

    . Furthermore, to identify the risk factors unique for isolated CHC as compared to syndromic CHC. METHODS: We established a cohort of all children born in Denmark between 1978 and 2008. Information on CHC and maternal medical diseases were obtained from the National Patient Discharge Register, maternal intake...... increased risk of isolated CHC compared to unexposed children (RR 2.52, 95% CI 1.47 to 4.29) (1.5/1000 born children). Risk factors also found for syndromic CHC were: Male gender, multiples and maternal diabetes. CONCLUSIONS: The higher risk for isolated CHC in first-born children as well as behavioural......-born children, we observed 1193 cases of isolated CHC (0.062/1000) born children. First-borns had an increased risk of isolated CHC compared to later-borns (1.32 95% CI 1.17 to 1.49) (0.72/1000 born children). First trimester exposure to maternal use of antidepressants was associated with a significantly...

  3. Comparison of hydrocephalus appearance at spinaldysraphia.

    Science.gov (United States)

    Elshani, Besnik; Lenjani, Basri

    2013-01-01

    Congenital malformation of spinal dysraphism followed by hydrocephalus are phenomenon reveals during intrauterine child growth. Prime objective of this work was to present Comparison of hydrocephalus appearance at spinal dysraphism respectively at its meningocele and myelomeningocele forms in Neurosurgery Clinic in UCC in Prishtina. It is perfected with retrospective and prospective method precisely of its epidemiologic part summarizing notices from patients' histories which in 2000-2006 are hospitalized in Neurosurgery Clinic from (QFLPK)--Pediatric Clinic and Children Box (Department)--Gynecology Clinic and from Sanitary Regional Center throughout Kosova. Our study objects were two groups, as the first group 90 patients with spinal dysraphism where neurosurgery operations were done and classified types of dysraphism. At myelomeningocele hydrocephalus has dominated and in a percent of appearance and as acute of its active form was 97% of hydrocephalus form where subjected to cerebrospinal liquid derivation with ventriculo -peritoneal shunt in comparison with meningocele we do not have involvation of spinal nerve element, hydrocephalus takes active form with intervention indication in 60% of cases. Reflection in shown deficit aspect is totally different at myelomeningoceles where lower paraplegia dominate more than paraparesis. The second patient operative technique developed by hydrocephalus with neurosurgical intervention indication has to do with placing of (VP) ventriculo- peritoneal system (shant) at myelomeningoceles with hydrocephalus 58 cases and 12 cases meningoceles with hydrocephalus. Post operative meningitis (shant meningitis): from 70 operated cases of hydrocephalus with spinal dysraphism shunts complications from all types are just cases. Finally that appearance of hydrocephalus compared at spinal dysraphism dominate at myellomeningoceles as in notice time aspect, it is persisting and further acute, with vital motivation for neurosurgical

  4. Prolonged Ileus in an Infant Presenting with Primary Congenital Hypothyroidism

    Directory of Open Access Journals (Sweden)

    Caroline Chua

    2015-01-01

    Full Text Available Congenital hypothyroidism (CH is the most common endocrine disorder affecting the newborn. Universal newborn screening (NBS has virtually eliminated the static encephalopathy and devastating neurodevelopmental syndrome known as cretinism. This report describes the presentation of an infant referred by the primary pediatrician to our hospital at 12 days of age for confirmatory testing after the NBS was consistent with CH. The infant had hypoglycemia secondary to lethargy and poor feeding and required transfer to the neonatal intensive care unit for worsening abdominal distension despite normalization of serum thyroid function tests following hormone replacement. In particular, the recalcitrant ileus and secondary bowel obstruction resulted in an additional diagnostic workup and lengthened hospital day. Our report highlights the acute gastrointestinal consequences of hypothyroidism despite evidence of effective treatment. We believe that the preclinical detection and immediate therapy for CH have lessened the prevalence of this presentation in general practice, and hence practitioners are less likely to be familiar with its natural history and management.

  5. Primary congenital bladder diverticula: Where does the ureter drain?

    Directory of Open Access Journals (Sweden)

    Antonio Macedo

    2015-01-01

    Full Text Available Background: Primary congenital bladder diverticulum (PCBD is related to a deficient detrusor layer allowing out-pouching of the bladder mucosa through the inadequate muscularis wall. We aimed to review our experience with symptomatic PCBD in order to correlate clinical findings with anatomical aspects and to present late outcome. Materials and Methods: We reviewed all patients operated in our institution since 2004. We evaluated the charts for complaints, radiological exams, method of treatment, complications and length of follow-up. Results: We treated 10 cases (11 renal units - [RU], predominantly males (9/10, mean age at surgery of 5.3 years. All patients had significant urological complaints presenting either with antenatal hydronephrosis (4 or febrile urinary tract infection (5 and urinary retention in one. The ureter was found implanted inside the diverticulum in 8/11 RU. An extravesical psoas-hitch ureteroneocystostomy and diverticulum resection was performed in 10/11 cases, whereas 1 case was treated intravesically based on surgeon′s preference without performing cystoscopy. Mean follow-up was 34.1 months (1-120 without complications. Conclusions: PCBD is an uncommon diagnosis and has a high probability of drainage inside the diverticulum (72.7%. We recommend the extravesical approach associated with diverticulectomy and ureteroneocystostomy as the preferred technique to treat this abnormality.

  6. Congenital constriction of the foramen of Monro

    International Nuclear Information System (INIS)

    Marions, O.; Boethius, J.

    1986-01-01

    We report two cases of hydrocephalus in adults. The radiological investigations and direct inspection during surgery in one of the cases indicate that the hydrocephalus is caused in both cases by a benign stricture in the region of the foramen of Monro and that this constriction is congenital. This origin of hydrocephalus has not been reported previously in adults. (orig.)

  7. A rare combination: congenital factor VII deficiency with Chiari malformation.

    Science.gov (United States)

    Bay, Ali; Aktekin, Elif; Erkutlu, Ibrahim

    2015-12-01

    Congenital factor (VII) deficiency is a rare bleeding disorder. We present a patient with congenital FVII deficiency and congenital hydrocephalus who underwent a ventriculoperitoneal shunt operation and needed no prophylaxis after the procedure.

  8. Primary versus secondary intraocular lens implantation in the management of congenital cataract

    Directory of Open Access Journals (Sweden)

    Thanaa H Mohamed

    2016-01-01

    Conclusion Primary IOL implantation was found to be safe and effective in the management of congenital cataract; it leads to lower incidence of complications and better visual outcomes compared with aphakia and secondary IOL implantation.

  9. Screening for Congenital Color Vision Deficiency in Primary ...

    African Journals Online (AJOL)

    Methods: The teachers were randomly selected from 13 schools in Port Harcourt City (PHC) and given a six hours training workshop on vision disorders in children and congenital color vision screening. They were given a self administered pre and post test questionnaires before and after training respectively. Subsequently ...

  10. Endoscopic third ventriculostomy for obstructive hydrocephalus

    International Nuclear Information System (INIS)

    Ali, M.; Usman, M.; Khan, Z.; Khan, K.M.; Hussain, R.; Khanzada, K.

    2013-01-01

    To determine the success rate of endoscopic third ventriculostomy (ETV) for treating obstructive hydrocephalus. Study Design: Cross-sectional observational study. Place and Duration of Study: The Neurosurgery Department of PGMI, Lady Reading Hospital, Peshawar, from May 2010 to November 2011. Methodology: Patients with obstructive hydrocephalus due to aqueductal stenosis, tectal and non-tectal tumour and already shunted patients for obstructive hydrocephalus presented with blocked shunt were included in the study. Patients with congenital hydrocephalus and secondary to meningitis were excluded. Endoscopic third ventriculostomy was performed. Success, complications and mortality was noted. Data was analyzed by descriptive statistics using SPSS software version 17. Results: There were 155 patients including 72 males and 83 females with ratio of 1: 1.33. Success rate was 71%. Indication of surgery was obstructive hydrocephalus due to aqueductal stenosis, posterior fossa tumour, brain stem and CP angle tumour. Complications were seen in 18 patients including mortality in 3 patients. Conclusion: ETV is effective, safe and successful procedure in patients with obstructive hydrocephalus. It may be used as replacement procedure of ventriculo-peritoneal shunt as initial line of management in selected patients. (author)

  11. Hydrocephalus (For Parents)

    Science.gov (United States)

    ... any of the ventricles, or something disturbs the recycling, CSF backs up and causes hydrocephalus. Hydrocephalus can ... and/or other repetitive eye movements Changes in personality, loss of new developmental abilities (like speaking or ...

  12. Hydrocephalus in spina bifida

    African Journals Online (AJOL)

    deep concern. It is therefore .... Natural history of hydrocephalus in children with spinal open neural tube defect. Surg. Neurol Int ... fluid shunt infection: e Hydrocephalus Clinical Research Network Quality Improvement Initiative. J Neurosurg ...

  13. National Hydrocephalus Foundation

    Science.gov (United States)

    ... Mission, History & Philosophy of NHF Treatment of Hydrocephalus What is a Shunt? Treatment Third Ventriculostomy Shunt Malfunction Prognosis and Research Medical Dictionary Resources Success Stories Blessing in Disguise Our Shining Star So Grateful Living with Hydrocephalus Fetal MRI Advancements ...

  14. Suprasellar choristoma associated with congenital hydrocephalus, anophthalmia, cleft lip and palate, and clinodactly: a proposed variant of a unique new syndrome

    Directory of Open Access Journals (Sweden)

    Alysse J. Sever, MD

    2015-12-01

    Full Text Available A male infant was born with a bilateral cleft lip and/or palate, absent nasal structures, left anophthalmos, right coloboma, and bilateral fifth digit clinodactly. Brain magnetic resonance imaging revealed severe asymmetric hydrocephalus, absent corpus callosum, a suprasellar mass with a high riding third ventricle, and no pituitary gland. He had a normal male karyotype and normal prenatal laboratory testing. He had no significant family history and no renal, vertebral, gastrointestinal, or cardiac malformations. This combination of central nervous system findings, ocular and craniofacial abnormalities, a normal karyotype, and limited skeletal abnormalities to our knowledge has only been previously described once in the literature in association with a disruption in Pax and Sonic Hedgehog protein pathways, and we conclude this patient represents a variant of this described syndrome.

  15. Medfødt hydrocephalus--forekomst og prognose. Mortalitet og morbiditet i en populationsbaseret opgørelse

    DEFF Research Database (Denmark)

    Christensen, Jacob Haaber; Hansen, Lars Kjaersgård; Garne, Ester

    2003-01-01

    The aim was to describe the prevalence and to estimate the prognosis of congenital hydrocephalus (HC) in fetuses and children.......The aim was to describe the prevalence and to estimate the prognosis of congenital hydrocephalus (HC) in fetuses and children....

  16. Gevolgen van hydrocephalus

    NARCIS (Netherlands)

    Tromp, Cornelis Nicolaas

    1984-01-01

    Hydrocephalus is een aandoening van het centrale zenuwstelsel die de clinicus vrij lang voor grote problemen ten aanzien van de behandeling heeft qesteld. Door de toepassing van de ventriculo-atriale shunttechniek zijn de behandelingsmogelijkheden van hydrocephalus sterk verbeterd. Deze studie

  17. Compensated or progressive hydrocephalus?

    NARCIS (Netherlands)

    Leliefeld, P.H.

    2012-01-01

    OBJECTIVE: Raised intracranial pressure (ICP) that is associated with hydrocephalus may lead to alterations in cerebral hemodynamics and ischemic changes in the brain. In infants with hydrocephalus, defining the right moment for surgical intervention based on clinical signs alone, can sometimes be a

  18. Papilledema in children with hydrocephalus: incidence and associated factors.

    Science.gov (United States)

    Lee, Haeng Jin; Phi, Ji Hoon; Kim, Seung-Ki; Wang, Kyu-Chang; Kim, Seong-Joon

    2017-06-01

    OBJECTIVE The aim of this study was to report the incidence of and the factors associated with papilledema in children with hydrocephalus. METHODS Patients younger than 15 years of age who had been diagnosed with hydrocephalus and treated by extra-ventricular drainage or ventriculoperitoneal shunt surgery between 2005 and 2015 were retrospectively reviewed. Factors including patient age and sex, etiology of hydrocephalus, duration of signs or symptoms, intracranial pressure (ICP), and presence of papilledema were evaluated. RESULTS Forty-six patients, whose mean age was 6.3 ± 4.7 years, were included in the study. The 19 patients without papilledema had a mean age of 2.7 ± 2.7 years, and the 27 patients with papilledema had a mean age of 8.8 ± 4.2 years (p hydrocephalus were tumor (59%), congenital anomaly (19%), hemorrhage (13%), and infection (9%). CONCLUSIONS Papilledema was more common in patients who were older, who had higher ICP, and whose hydrocephalus had been induced by brain tumor. However, since papilledema was absent in 41% of the children with hydrocephalus, papilledema's absence does not ensure the absence of hydrocephalus, especially in younger patients.

  19. News about the genetics of congenital primary adrenal insufficiency.

    Science.gov (United States)

    Roucher-Boulez, Florence; Mallet-Motak, Delphine; Tardy-Guidollet, Véronique; Menassa, Rita; Goursaud, Claire; Plotton, Ingrid; Morel, Yves

    2018-04-13

    Primary adrenal insufficiency (PAI) is characterized by impaired production of steroid hormones due to an adrenal cortex defect. This condition incurs a risk of acute insufficiency which may be life-threatening. Today, 80% of pediatric forms of PAI have a genetic origin but 5% have no clear genetic support. Recently discovered mutations in genes relating to oxidative stress have opened the way to research on genes unrelated to the adrenal gland. Identification of causal mutations in a gene responsible for PAI allows genetic counseling, guidance of follow-up and prevention of complications. This is particularly true for stress oxidative anomalies, as extra-adrenal manifestations may occur due to the sensitivity to oxidative stress of other organs such as the heart, thyroid, liver, kidney and pancreas. Copyright © 2018 Elsevier Masson SAS. All rights reserved.

  20. Cerebrospinal fluid circulation and hydrocephalus.

    Science.gov (United States)

    Leinonen, Ville; Vanninen, Ritva; Rauramaa, Tuomas

    2017-01-01

    Hydrocephalus (HC) is classically defined as dynamic imbalance between the production and absorption of cerebrospinal fluid (CSF) leading to enlarged ventricles. Potential causative factors include various brain disorders like tumors causing obstruction of CSF flow within the ventricular system or the subarachnoid space. Classification of HC is based on the site of CSF flow obstruction guiding optimal treatment, with endoscopic third ventriculostomy in intraventricular obstruction and CSF shunt in communicating HC. Another clinically relevant classification is acute and chronic; the most frequent chronic form is idiopathic normal-pressure hydrocephalus (iNPH). The reported incidence of HC varies according to the study population and classification used. The incidence of congenital HC is approximately 0.4-0.6/1,000 newborns and the annual incidence of iNPH varies from 0.5/100,000 to 5.5/100,000. Radiologically, ventricular dilatation may be nonspecific, and differentiation of iNPH from other neurodegenerative diseases may be ambiguous. There are no known specific microscopic findings of HC but a systematic neuropathologic examination is needed to detect comorbid diseases and possible etiologic factors of HC. Depending on the etiology of HC, there are several nonspecific signs potentially to be seen. Copyright © 2017 Elsevier B.V. All rights reserved.

  1. CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark

    DEFF Research Database (Denmark)

    Grønskov, Karen; Redó-Riveiro, Alba; Sandfeld, Lisbeth

    2016-01-01

    Primary congenital glaucoma (PCG OMIM 231300) can be caused by pathogenic sequence variations in cytochrome P450, subfamily 1, polypeptide 1 (CYP1B1). The purpose of this study was to investigate the contribution of sequence variations in CYP1B1 in a cohort of individuals with PCG residing...... mutations, 5 of which were novel. The frequency of CYP1B1 mutations in this cohort was comparable with other populations. We also detected an individual heterozygous for p.(Tyr81Asn) mutation, previously suggested to cause autosomal dominant primary open-angle glaucoma....

  2. Normal Pressure Hydrocephalus

    Science.gov (United States)

    ... improves the chance of a good recovery. Without treatment, symptoms may worsen and cause death. What research is being done? The NINDS conducts and supports research on neurological disorders, including normal pressure hydrocephalus. Research on disorders such ...

  3. Outcomes of Ahmed glaucoma valve implantation in advanced primary congenital glaucoma with previous surgical failure.

    Science.gov (United States)

    Huang, Jingjing; Lin, Jialiu; Wu, Ziqiang; Xu, Hongzhi; Zuo, Chengguo; Ge, Jian

    2015-01-01

    The purpose of this study was to evaluate the intermediate surgical results of Ahmed glaucoma valve (AGV) implantation in patients less than 7 years of age, with advanced primary congenital glaucoma who have failed previous surgeries. Consecutive patients with advanced primary congenital glaucoma that failed previous operations and had undergone subsequent AGV implantation were evaluated retrospectively. Surgical success was defined as 1) intraocular pressure (IOP) ≥6 and ≤21 mmHg; 2) IOP reduction of at least 30% relative to preoperative values; and 3) without the need for additional surgical intervention for IOP control, loss of light perception, or serious complications. Fourteen eyes of eleven patients were studied. Preoperatively, the average axial length was 27.71±1.52 (25.56-30.80) mm, corneal diameter was 14.71±1.07 (13.0-16.0) mm, cup-to-disc ratio was 0.95±0.04 (0.9-1.0), and IOP was 39.5±5.7 (30-55) mmHg. The mean follow-up time was 18.29±10.96 (5-44, median 18) months. There were significant reductions in IOPs and the number of glaucoma medications (Pvalve success were 85.7%, 71.4%, and 71.4% at 6, 12, and 18 months, respectively. Severe surgical complications, including erosion of tube, endophthalmitis, retinal detachment, choroidal detachment, and delayed suprachoroidal hemorrhage, occurred in 28.6% cases. AGV implantation remains a viable option for patients with advanced primary congenital glaucoma unresponsive to previous surgical intervention, despite a relatively high incidence of severe surgical complications.

  4. Outcomes of Ahmed glaucoma valve implantation in advanced primary congenital glaucoma with previous surgical failure

    Directory of Open Access Journals (Sweden)

    Huang J

    2015-06-01

    Full Text Available Jingjing Huang,1 Jialiu Lin,1 Ziqiang Wu,2 Hongzhi Xu,3 Chengguo Zuo,1 Jian Ge1 1State Key Laboratory of Ophthalmology, Department of Glaucoma, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, People’s Republic of China; 2Center for Advanced Eye Care, Carson City, NV, USA; 3Institute of Child Health Policy, University of Florida, Gainesville, FL, USA Purpose: The purpose of this study was to evaluate the intermediate surgical results of Ahmed glaucoma valve (AGV implantation in patients less than 7 years of age, with advanced primary congenital glaucoma who have failed previous surgeries.Patients and methods: Consecutive patients with advanced primary congenital glaucoma that failed previous operations and had undergone subsequent AGV implantation were evaluated retrospectively. Surgical success was defined as 1 intraocular pressure (IOP ≥6 and ≤21 mmHg; 2 IOP reduction of at least 30% relative to preoperative values; and 3 without the need for additional surgical intervention for IOP control, loss of light perception, or serious complications.Results: Fourteen eyes of eleven patients were studied. Preoperatively, the average axial length was 27.71±1.52 (25.56–30.80 mm, corneal diameter was 14.71±1.07 (13.0–16.0 mm, cup-to-disc ratio was 0.95±0.04 (0.9–1.0, and IOP was 39.5±5.7 (30–55 mmHg. The mean follow-up time was 18.29±10.96 (5–44, median 18 months. There were significant reductions in IOPs and the number of glaucoma medications (P<0.001 postoperatively. The IOPs after operation were 11.3±3.4, 13.6±5.1, 16.3±2.7, and 16.1±2.6 mmHg at 1 month, 6 months, 12 months, and 18 months, respectively. Kaplan–Meier estimates of the cumulative probability of valve success were 85.7%, 71.4%, and 71.4% at 6, 12, and 18 months, respectively. Severe surgical complications, including erosion of tube, endophthalmitis, retinal detachment, choroidal detachment, and delayed suprachoroidal hemorrhage, occurred in 28

  5. Hydrocephalus in cerebral venous thrombosis

    NARCIS (Netherlands)

    Zuurbier, Susanna M.; van den Berg, René; Troost, Dirk; Majoie, Charles B.; Stam, Jan; Coutinho, Jonathan M.

    2015-01-01

    Increased intracranial pressure is common in cerebral venous thrombosis (CVT), but hydrocephalus is rarely reported in these patients. We examined the frequency, pathophysiology and associated clinical manifestations of hydrocephalus in patients with CVT admitted to our hospital between 2000 and

  6. Sonographic pattern of hydrocephalus among the under five children in Sokoto North Western Nigeria

    Directory of Open Access Journals (Sweden)

    Sule Ahmed Saidu

    2015-01-01

    Full Text Available Background: Hydrocephalus among children is an important medical problem in view of its neurological sequelae in the growing child. This situation is compounded by the acute shortage of neurosurgeons in third world countries like Nigeria; hence, the need for its early detection and proper management. Objective: Evaluation of the ultrasound (US appearances in children under 5 years of age presenting with clinical signs of raised intracranial pressure suggestive of hydrocephalus. Patients and Methods: A retrospective review of transfontanelle US scans done in 64 children (39 boys and 25 girls attending the Department of Radiology, Usmanu Danfodiyo University Teaching Hospital, Sokoto, Nigeria over a period of 2 years was carried out. The patients had a mean age of 5.0 ± 4.6 months (range: 1–60 months at the time of their US examination. Some of the clinical indications for US scan included: Congenital hydrocephalus, encephalocele, meningomyelocele, and meningitis. All scans were performed through the anterior fontanelle using SIUI Apogee 800 PLUS scanner with a curvilinear probe using multi-frequency transducer of 2–5 MHz. Results: Fifty-two patients (81.3% had hydrocephalus of congenital origin. Eleven cases (17.2% had postmeningitic hydrocephalus while only 1 case (1.6% was posthemorrhagic. Twenty-five patients (48.0% of the congenital cases were due to cerebral aqueduct stenosis. Eleven (21.2% of the congenital cases were from obstruction at the exit foramina of Luschka and Magendie resulting in the communicating type of hydrocephalus. Conclusion: Hydrocephalus is a known cause of neurological morbidity among infants in developing countries. Majority of the cases are congenital in origin and most commonly due to cerebral aqueduct stenosis. Transfontanelle US is cheap, affordable, nonhazardous, and more accessible than other imaging modalities. It should serve as the first-line investigation of infants with suspected hydrocephalus for early

  7. Factors associated with strabismus after cataract extraction and primary intraocular lens implantation in congenital cataracts

    Directory of Open Access Journals (Sweden)

    Soo Jung Lee

    2014-06-01

    Full Text Available AIM: To evaluate factors associated with the development of strabismus after cataract extraction and primary intraocular lens implantation.METHODS: The medical records of 122 patients, aged 1.5mo to 9y, who had undergone cataract extraction with primary intraocular lens implantation between January 1993 and August 2011 were reviewed. Fourteen patients (17 eyes with strabismus before cataract surgery were excluded. Patients were divided into those with congenital bilateral cataracts (64 patients, 128 eyes and those with unilateral cataracts (44 patients, 44 eyes. The associations between the development of strabismus and age at cataract surgery, pre- and post-cataract extraction corrected distance visual acuity (CDVA, interocular CDVA difference, nystagmus, surgical method, and secondary cataract were evaluated.RESULTS: Factors significantly associated with the development of strabismus included age at cataract surgery (≤1y, preoperative mean CDVA ≤20/100, presence of nystagmus in the bilateral cataract group and postoperative interocular CDVA difference >20/70 in the unilateral group. Postoperative CDVA ≤20/100 and preservation of posterior capsule, and presence of secondary cataract were significant factors in both groups.CONCLUSION: Children with congenital cataracts should be monitored carefully after cataract surgery for the development of strabismus, especially when they underwent surgery at age ≤1y, and they have nystagmus, large postoperative interocular CDVA difference, poor preoperative and postoperative CDVA, preservation of the posterior capsule, or secondary cataract.

  8. Outcomes of Ahmed glaucoma valve implantation in advanced primary congenital glaucoma with previous surgical failure

    Science.gov (United States)

    Huang, Jingjing; Lin, Jialiu; Wu, Ziqiang; Xu, Hongzhi; Zuo, Chengguo; Ge, Jian

    2015-01-01

    Purpose The purpose of this study was to evaluate the intermediate surgical results of Ahmed glaucoma valve (AGV) implantation in patients less than 7 years of age, with advanced primary congenital glaucoma who have failed previous surgeries. Patients and methods Consecutive patients with advanced primary congenital glaucoma that failed previous operations and had undergone subsequent AGV implantation were evaluated retrospectively. Surgical success was defined as 1) intraocular pressure (IOP) ≥6 and ≤21 mmHg; 2) IOP reduction of at least 30% relative to preoperative values; and 3) without the need for additional surgical intervention for IOP control, loss of light perception, or serious complications. Results Fourteen eyes of eleven patients were studied. Preoperatively, the average axial length was 27.71±1.52 (25.56–30.80) mm, corneal diameter was 14.71±1.07 (13.0–16.0) mm, cup-to-disc ratio was 0.95±0.04 (0.9–1.0), and IOP was 39.5±5.7 (30–55) mmHg. The mean follow-up time was 18.29±10.96 (5–44, median 18) months. There were significant reductions in IOPs and the number of glaucoma medications (Pglaucoma unresponsive to previous surgical intervention, despite a relatively high incidence of severe surgical complications. PMID:26082610

  9. A guide for identification and continuing care of adult congenital heart disease patients in primary care.

    Science.gov (United States)

    Ellison, S; Lamb, J; Haines, A; O'Dell, S; Thomas, G; Sethi, S; Ratcliffe, J; Chisholm, S; Vaughan, J; Mahadevan, V S

    2013-03-10

    Surgical and other advances in the treatment and care of congenital heart disease have resulted in a significant increase in the number of adults with congenital heart disease (ACHD), many of whom have no regular cardiology follow-up. Optimised care for ACHD patients requires continuity of specialist and shared care and education of practitioners and patients. The challenges for managing ACHD were identified by a Health Needs Assessment in the North West and are addressed within the UK Department of Health's ACHD Commissioning Guide. An ACHD model of care was recommended in the North West of England and developed by the three North West Cardiac & Stroke Networks. Within this, a Task Group focused on the role of primary care in the identification and continuing care of ACHD patients. A feasibility study demonstrated that existing diagnostic Read Codes can identify ACHD patients on general practice registers. An ACHD Toolkit was developed to provide algorithms to guide the appropriate management of ACHD patients through primary, secondary and/or specialist ACHD care and to improve education/knowledge amongst primary care staff about ACHD and its wider implications. Early findings during the development of this Toolkit illustrate a wide disparity of provision between current and optimal management strategies. Patients lost to follow-up have already been identified and their management modified. By focusing on identifying ACHD patients in primary care and organising/delivering ACHD services, the ACHD Toolkit could help to improve quality, timeliness of care, patient experience and wellbeing. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  10. Antenatal risk factors for symptomatic congenital CMV disease following primary maternal CMV infection.

    Science.gov (United States)

    Hadar, Eran; Salzer, Liat; Dorfman, Elizabeta; Amir, Jacob; Pardo, Joseph

    2016-04-01

    This study aimed to evaluate antenatal risk factors associated with symptomatic congenital cytomegalovirus (CMV) disease, following in utero vertical infection. This study included a retrospective cohort of 155 neonates with congenital CMV infection, following primary maternal CMV infection during pregnancy, and were divided to symptomatic (n=95) and asymptomatic (n=60) newborns. Young maternal age (29.1±5.12 vs. 31.6±5.36 years, P=0.005), high risk occupation for viral exposure (20.0% vs. 11.7%, P=0.04), CMV IgG seroconversion at diagnosis (83.1% vs. 63.3%, P=0.005) and abnormal fetal MRI (11.6% vs. 0%, P=0.003) were found to be prognostic risk factors associated with symptomatic CMV disease of the newborn. Maternal febrile illness at diagnosis, IgG avidity, US findings and the timing of maternal infection were not associated with the occurrence of neonatal symptoms. Knowledge of the reported risk factors may assist in counseling parents with intra uterine CMV infection.

  11. Clinical analysis of aqueductal stenosis in patients with hydrocephalus in a Kenyan setting.

    Science.gov (United States)

    Kaur, Loyal Poonamjeet; Munyiri, Nderitu Joseph; Dismus, Wekesa Vincent

    2017-01-01

    Aqueductal stenosis is the commonest cause of congenital hydrocephalus. The scope of this paper is to highlight the disease burden of hydrocephalus attributed to aqueductal stenosis which still remains unknown in our setting. In a descriptive cross-sectional study, 258 records of patients diagnosed with hydrocephalus were analyzed after ethical approval from Kenyatta National Hospital- University of Nairobi (KNH-UON) ethics and research committee from January 2010 to May 2016. Patients with a diagnosis of hydrocephalus due to aqueductal stenosis were included in this study. Patients age, sex, mode of delivery, associated comorbidities, presenting complaints, neurosurgical intervention performed, Kafarnosky score were recorded. Data were divided into 2 sets based on the patient's age i.e. whether 12 years. Data were recorded on google data collection form and analyzed using Google spreadsheets. Out of 258 cases of hydrocephalus, 52 had aqueductal stenosis. Male to female sex ratio for this condition was 3:2. There were 25 cases 12 years old who were diagnosed with hydrocephalus due to aqueductal stenosis. Associated conditions were bilateral congenital talipes equinovarus, spina bifida, Arnold Chairi malformations, meningitis and HIV. The presenting complaints differed according to the age groups. Neurosurgical interventions included Endoscopic Third Ventriculostomy (ETV) in 21 cases, insertion of Ventriculoperitoneal (VP) shunt and ETV were done in 3 cases while the rest had only insertion of VP shunt. The Kafanosky score improve from hydrocephalus. Clinical presentation differs according to patients age. Accurate diagnosis and treatment remain a cardinal to improving patient outcome.

  12. Advances in understanding the pathogenesis of primary familial and congenital polycythemia

    Science.gov (United States)

    Huang, Lily Jun-shen; Shen, Yu-Min; Bulut, Gamze B.

    2010-01-01

    Summary Primary familial and congenital polycythemia (PFCP) is an autosomal-dominant proliferative disorder characterized by erythrocytosis and hypersensitivity of erythroid progenitors to erythropoietin (Epo). Several lines of evidence suggest a causal role of truncated erythropoietin receptor (EpoR) in this disease. In this review, we discuss PFCP in the context of erythrocytosis and EpoR signaling. We focus on recent studies describing mechanisms underlying Epo-dependent EpoR down-regulation. One mechanism depends on internalization mediated through the p85 regulatory subunit of the Phosphoinositide 3-Kinase, and the other utilizes ubiquitin-based proteasomal degradation. Truncated PFCP EpoRs are not properly down-regulated upon stimulation, underscoring the importance of these mechanisms in the pathogenesis of PFCP. PMID:20096014

  13. An unusual cause of hydrocephalus: aqueductal developmental venous anomaly

    Energy Technology Data Exchange (ETDEWEB)

    Yagmurlu, Banu; Fitoz, Suat; Atasoy, Cetin; Erden, ilhan [Ankara University School of Medicine, Department of Radiology, Ankara (Turkey); Deda, Gulhis; Unal, Ozlem [Ankara University School of Medicine, Division of Pediatric Neurology, Ankara (Turkey)

    2005-06-01

    Vascular malformations are infrequent causes of aqueductal stenoses, developmental venous anomaly (DVA) being the rarest among them. DVAs, also known as venous angiomas, are congenital in origin and characterized by dilatation of vessels in the superficial and deep venous system. Although they are usually clinically silent, they can be complicated by hemorrhage, seizures and neurologic deficits. Herein, we report MR imaging findings of a 7-year-old girl whose hydrocephalus was due to an abnormal vein coursing through the aqueduct. (orig.)

  14. Biomarkers in adult posthemorrhagic hydrocephalus.

    Science.gov (United States)

    Hua, Cong; Zhao, Gang

    2017-08-01

    Posthemorrhagic hydrocephalus is a severe complication following intracranial hemorrhage. Posthemorrhagic hydrocephalus is often associated with high morbidity and mortality and serves as an important clinical predictor of adverse outcomes after intracranial hemorrhage. Currently, no effective medical intervention exists to improve functional outcomes in posthemorrhagic hydrocephalus patients because little is still known about the mechanisms of posthemorrhagic hydrocephalus pathogenesis. Because a better understanding of the posthemorrhagic hydrocephalus pathogenesis would facilitate development of clinical treatments, this is an active research area. The purpose of this review is to describe recent progress in elucidation of molecular mechanisms that cause posthemorrhagic hydrocephalus. What we are certain of is that the entry of blood into the ventricular system and subarachnoid space results in release of lytic blood products which cause a series of physiological and pathological changes in the brain. Blood components that can be linked to pathology would serve as disease biomarkers. From studies of posthemorrhagic hydrocephalus, such biomarkers are known to mutually synergize to initiate and promote posthemorrhagic hydrocephalus progression. These findings suggest that modulation of biomarker expression or function may benefit posthemorrhagic hydrocephalus patients.

  15. Idiopathic Normal Pressure Hydrocephalus

    Directory of Open Access Journals (Sweden)

    Basant R. Nassar BS

    2016-04-01

    Full Text Available Idiopathic normal pressure hydrocephalus (iNPH is a potentially reversible neurodegenerative disease commonly characterized by a triad of dementia, gait, and urinary disturbance. Advancements in diagnosis and treatment have aided in properly identifying and improving symptoms in patients. However, a large proportion of iNPH patients remain either undiagnosed or misdiagnosed. Using PubMed search engine of keywords “normal pressure hydrocephalus,” “diagnosis,” “shunt treatment,” “biomarkers,” “gait disturbances,” “cognitive function,” “neuropsychology,” “imaging,” and “pathogenesis,” articles were obtained for this review. The majority of the articles were retrieved from the past 10 years. The purpose of this review article is to aid general practitioners in further understanding current findings on the pathogenesis, diagnosis, and treatment of iNPH.

  16. Hydrocephalus in neuromyelitis optica

    OpenAIRE

    Clardy, Stacey L.; Lucchinetti, Claudia F.; Krecke, Karl N.; Lennon, Vanda A.; O'Toole, Orna; Weinshenker, Brian G.; Boyd, Clara D.; Krieger, Stephen; McGraw, Corey; Guo, Yong; Pittock, Sean J.

    2014-01-01

    A majority of patients with neuromyelitis optica (NMO) spectrum disorders (NMOSD) have MRI brain abnormalities, some of which are “NMO-typical” with localization in aquaporin 4 (AQP4)–rich circumventricular and periaqueductal regions.1 Although uncommon in adult patients, symptomatic brain involvement occurs in approximately 50% of NMO–immunoglobulin G (IgG) seropositive children. Here we report the clinical characteristics, type, and frequency of hydrocephalus in NMOSD.

  17. MR elastography of hydrocephalus

    Science.gov (United States)

    Pattison, Adam J.; Lollis, S. Scott; Perrinez, Phillip R.; Weaver, John B.; Paulsen, Keith D.

    2009-02-01

    Hydrocephalus occurs due to a blockage in the transmission of cerebrospinal fluid (CSF) in either the ventricles or subarachnoid space. Characteristics of this condition include increased intracranial pressure, which can result in neurologic deterioration [1]. Magnetic resonance elastography (MRE) is an imaging technique that estimates the mechanical properties of tissue in vivo. While some investigations of brain tissue have been performed using MRE [2,3,4,5], the effects due to changes in interstitial pressure and fluid content on the mechanical properties of the brain remain unknown. The purpose of this work is to assess the potential of MRE to differentiate between the reconstructed properties of normal and hydrocephalic brains. MRE data was acquired in 18 female feline subjects, 12 of which received kaolin injections resulting in an acute form of hydrocephalus. In each animal, four MRE scans were performed during the process including one pre-injection and three post-injection scans. The elastic parameters were obtained using a subzone-based reconstruction algorithm that solves Navier's equations for linearly elastic materials [6]. The remaining cats were used as controls, injected with saline instead of kaolin. To determine the state of hydrocephalus, ventricular volume was estimated from segmenting anatomical images. The mean ventricular volume of hydrocephalic cats significantly increased (P ~ 0.5) for the control cats. Also, there was an observable increase in the recorded elastic shear modulus of brain tissue in the normal and hydrocephalic acquisitions. Results suggest that MRE is able to detect changes in the mechanical properties of brain tissue resulting from kaolin-induced hydrocephalus, indicating the need for further study.

  18. Primary prophylaxis for children with severe congenital factor VII deficiency - Clinical and laboratory assessment.

    Science.gov (United States)

    Kuperman, A A; Barg, A A; Fruchtman, Y; Shaoul, E; Rosenberg, N; Kenet, G; Livnat, T

    2017-09-01

    Severe congenital factor VII (FVII) deficiency is a rare bleeding disorder. Prophylaxis with replacement therapy has been suggested to patients, yet the most beneficial dosing regimens and therapy intervals are still to be defined. Due to the lack of evidence-based data, we hereby present our experience with long-term administration and monitoring primary prophylaxis in children with severe FVII deficiency and an extremely high bleeding risk. Four children with familial FVII deficiency, treated by prophylactic recombinant activated factor VII (rFVIIa), 15-30μg/kg/dose, given 2-3 times weekly since infancy, are discussed. Clinical follow up and monitoring laboratory assays, including thrombin generation, measured at various time points after prophylactic rFVIIa administration are presented. Among our treated patients neither FVII activity nor thrombin generation parameters (both already declined 24h post rFVIIa administration) were able to predict the impact of prophylaxis, and could not be used as surrogate markers in order to assess the most beneficial treatment frequency. However, the long clinical follow-up and comprehensive laboratory assessment performed, have shown that early primary prophylaxis as administered in our cohort was safe and effective. Copyright © 2016 Elsevier Inc. All rights reserved.

  19. Scintigraphic evaluation of primary congenital hypothyroidism: results of the Greek screening program

    Energy Technology Data Exchange (ETDEWEB)

    Panoutsopoulos, G.; Ilias, I.; Batsakis, C.; Christakopoulou, I. [Dept. of Nuclear Medicine, ' ' Sotiria' ' Hospital, Athens (Greece); Mengreli, C. [Inst. of Child Health, Athens (Greece)

    2001-04-01

    The Greek screening program for primary congenital hypothyroidism was initiated in 1979. By early 2000, thyrotropin measurements had been performed in 1,976,719 newborns, using dried blood spots obtained by heel prick. Among these children, 584 were diagnosed with congenital hypothyroidism (incidence: 1/3,384 births) and were given L-thyroxine (L-T{sub 4}) replacement therapy. In order to further evaluate and classify the children as having either an aplastic (AT) or an ectopic thyroid gland (ET) or as showing thyroidal dyshormonogenesis (DN, with a nomotopic gland), scintigraphic studies were performed at the age of 2-3 years. In 413 children of this age group (including 24 subsequently diagnosed as having had transient hypothyroidism, in whom L-T{sub 4} therapy was not resumed), thyroid hormones were measured and scintigraphic studies were done after withdrawal of L-T{sub 4} replacement treatment for 3 weeks. Given the long duration of the study, we used various scintigraphic modalities. In 96 children (group A), scintigraphy was performed using technetium-99m pertechnetate ({sup 99m}TcO{sub 4}{sup -}; 18.5 MBq given i.v.) and a rectilinear scanner. Seventy-three children (group B) were studied with {sup 99m}TcO{sub 4}{sup -} (18.5 MBq given i.v.) and a gamma camera equipped with a pinhole collimator. In these groups, atropine was administered 30 min prior to the study (0.02 mg/kg i.v. or i.m.) in order to reduce the secretion of saliva from the salivary glands. Finally, in the remaining 220 children (group C) iodine-123 sodium iodide ({sup 123}I-Na) (0.74-1.85 MBq i.v.) and the same gamma camera were used. Between-group comparisons of scintigraphic findings were done with the chi square test. In 191 children from group C, thyroglobulin (Tg) was measured and in 49 children ultrasound (US) was performed (categorising the gland as AT or ET/DN). Comparison of these modalities was done with the kappa statistic. In group A, 61.5% of children had AT, 26.0% had ET and

  20. Pushed monocanalicular intubation versus probing as a primary management for congenital nasolacrimal obstruction

    Directory of Open Access Journals (Sweden)

    Elsawaby EA

    2016-09-01

    Full Text Available Emad Abdelaal Elsawaby, Rania Asem El Essawy, Sameh Hassan Abdelbaky, Yomna Magdy Ismail Department of Ophthalmology, Faculty of Medicine, Cairo University, Cairo, Egypt Purpose: Evaluation of efficiency, complications, and advantages of pushed monocanalicular intubation using Masterka® tube versus simple probing in patients with congenital nasolacrimal duct obstruction (CNLDO.Patients and methods: This is a case-controlled study that included 60 eyes (of 53 patients; 30 eyes underwent probing and 30 eyes intubation using the Masterka tube as a primary treatment for CNLDO. The children were aged between 6 months and 36 months at the time of surgery, with no previous nasolacrimal surgical procedure, and had one or more of the following clinical signs of nasolacrimal duct obstruction: epiphora, mucous discharge, and/or increased tear lake.Results: We defined success by absence of epiphora, mucous discharge, or increased tear lake 1 month after tube removal. The overall success rate in the probing group was 80%, while it was 83.3% in the intubation group.Conclusion: Pushed monocanalicular intubation is an effective method for treatment of CNLDO; it requires only mask inhalation anesthesia and could be considered as an appropriate alternative procedure with imperceptible complications. Keywords: epiphora, probing, intubation, monocanalicular, nasolacrimal

  1. Cognitive disorders in children's hydrocephalus.

    Science.gov (United States)

    Zielińska, Dorota; Rajtar-Zembaty, Anna; Starowicz-Filip, Anna

    Hydrocephalus is defined as an increase of volume of cerebrospinal fluid in the ventricular system of the brain. It develops as a result of cerebrospinal fluid flow disorder due to dysfunctions of absorption or, less frequently, as a result of the increase of its production. Hydrocephalus may lead to various cognitive dysfunctions in children. In order to determine cognitive functioning in children with hydrocephalus, the authors reviewed available literature while investigating this subject. The profile of cognitive disorders in children with hydrocephalus may include a wide spectrum of dysfunctions and the process of neuropsychological assessment may be very demanding. The most frequently described cognitive disorders within children's hydrocephalus include attention, executive, memory, visual, spatial or linguistic dysfunctions, as well as behavioral problems. Copyright © 2017 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

  2. Diffuse choroid plexus hyperplasia: an under-diagnosed cause of hydrocephalus in children?

    Energy Technology Data Exchange (ETDEWEB)

    Aziz, Azian Abd.; Coleman, Lee [Royal Children' s Hospital Melbourne, Department of Medical Imaging, Parkville, Victoria (Australia); Morokoff, Andrew; Maixner, Wirginia [Royal Children' s Hospital Melbourne, Department of Neurosurgery, Parkville (Australia)

    2005-08-01

    Hydrocephalus is a common neurological disorder in children and the result of a variety of causes. However, with the advancement of imaging modalities, particularly MRI, previously reported rarer causes of hydrocephalus in children are now being more readily appreciated. We report an 11-year-old boy with diffuse villous hyperplasia of the choroid plexus. He had a ventriculo-peritoneal (VP) shunt in-situ and a prior diagnosis from infancy of congenital aqueduct stenosis as the cause of his hydrocephalus. His current presentation was with further shunt dysfunction. CT and MRI demonstrated enlarged choroid plexuses but did not confirm aqueduct stenosis. CSF overproduction was demonstrated from the externalized ventricular drain. The enlarged choroid plexuses were surgically resected and histology confirmed choroid plexus hyperplasia. Identification of choroid plexus hyperplasia is important since the neurosurgical management of hydrocephalus is not VP shunt insertion, but resection of the hyperplastic choroid plexus. (orig.)

  3. Diffuse choroid plexus hyperplasia: an under-diagnosed cause of hydrocephalus in children?

    International Nuclear Information System (INIS)

    Aziz, Azian Abd.; Coleman, Lee; Morokoff, Andrew; Maixner, Wirginia

    2005-01-01

    Hydrocephalus is a common neurological disorder in children and the result of a variety of causes. However, with the advancement of imaging modalities, particularly MRI, previously reported rarer causes of hydrocephalus in children are now being more readily appreciated. We report an 11-year-old boy with diffuse villous hyperplasia of the choroid plexus. He had a ventriculo-peritoneal (VP) shunt in-situ and a prior diagnosis from infancy of congenital aqueduct stenosis as the cause of his hydrocephalus. His current presentation was with further shunt dysfunction. CT and MRI demonstrated enlarged choroid plexuses but did not confirm aqueduct stenosis. CSF overproduction was demonstrated from the externalized ventricular drain. The enlarged choroid plexuses were surgically resected and histology confirmed choroid plexus hyperplasia. Identification of choroid plexus hyperplasia is important since the neurosurgical management of hydrocephalus is not VP shunt insertion, but resection of the hyperplastic choroid plexus. (orig.)

  4. Enhanced peripheral visual processing in congenitally deaf humans is supported by multiple brain regions, including primary auditory cortex

    OpenAIRE

    Scott, Gregory D.; Karns, Christina M.; Dow, Mark W.; Stevens, Courtney; Neville, Helen J.

    2014-01-01

    Brain reorganization associated with altered sensory experience clarifies the critical role of neuroplasticity in development. An example is enhanced peripheral visual processing associated with congenital deafness, but the neural systems supporting this have not been fully characterized. A gap in our understanding of deafness-enhanced peripheral vision is the contribution of primary auditory cortex. Previous studies of auditory cortex that use anatomical normalization across participants wer...

  5. Surgical Results of Trabeculectomy and Ahmed Valve Implantation Following a Previous Failed Trabeculectomy in Primary Congenital Glaucoma Patients

    OpenAIRE

    Lee, Naeun; Ma, Kyoung Tak; Bae, Hyoung Won; Hong, Samin; Seong, Gong Je; Hong, Young Jae; Kim, Chan Yun

    2015-01-01

    Purpose To compare the surgical results of trabeculectomy and Ahmed glaucoma valve implantation after a previous failed trabeculectomy. Methods A retrospective comparative case series review was performed on 31 eye surgeries in 20 patients with primary congenital glaucoma who underwent trabeculectomy or Ahmed glaucoma valve implantation after a previous failed trabeculectomy with mitomycin C. Results The preoperative mean intraocular pressure was 25.5 mmHg in the trabeculectomy group and 26.9...

  6. Long-term surgical outcomes of primary congenital glaucoma in China

    Directory of Open Access Journals (Sweden)

    Xiulan Zhang

    2009-06-01

    Full Text Available OBJECTIVE: To evaluate the long-term outcomes of three surgical procedures for the treatment of primary congenital glaucoma (PCG. INTRODUCTION: PCG is one of the main causes of blindness in children. There is a paucity of contemporary data on PCG in China. METHODS: A retrospective study of 48 patients (81 eyes with PCG who underwent primary trabeculectomy, trabeculotomy, or combined trabeculotomy and trabeculectomy (CTT. RESULTS: All patients were less than 4 years (yrs of age, with a mean age of 2.08 ± 1.23 yrs. The mean duration of follow-up was 5.49 ± 3.09 yrs. The difference in success rates among the three surgical procedures at 1, 3, 6 and 9 yrs was not statistically significant (p = 0.492. However, in patients with over 4 yrs of follow-up, Kaplan-Meier survival analysis revealed that the success rates of trabeculectomy and CTT declined more slowly than that of trabeculotomy. Among the patients, 66.22% acquired good vision (VA > 0.4, 17.57% acquired fair vision (VA = 0.1 - 0.3, and 16.22% acquired poor vision (VA < 0.1. The patients with good vision were mostly in the successful surgery group. Myopia was more prevalent postoperatively (p = 0.009. Reductions in the cup-disc ratio and corneal diameter were only seen in the successful surgery group (p = 0.000. In addition, the successful surgery group contained more patients that complied with a regular follow-up routine (p = 0.002. DISCUSSION: Our cases were all primary surgeries. Primary trabeculectomy was performed in many cases because no treatment was sought until an advanced stage of disease had been reached. CONCLUSIONS: In contrast to most reports, in the present study, trabeculectomy and CTT achieved higher long-term success rates than trabeculotomy. The patients with successful surgical results had better vision. Compliance with a routine of regular follow-up may increase the chances of a successful surgical outcome.

  7. Primary congenital abdominal aortic aneurysm: a case report with perinatal serial follow-up imaging

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jung Im; Lee, Whal; Chung, Jin Wook; Park, Jae Hyung [Seoul National University College of Medicine, Seoul National University Hospital, Department of Radiology, Seoul (Korea); Kim, Sang Joon [Seoul National University College of Medicine, Seoul National University Hospital, Department of Surgery, Seoul (Korea); Seo, Jeong-Wook [Seoul National University College of Medicine, Seoul National University Hospital, Department of Pathology, Seoul (Korea)

    2008-11-15

    Abdominal aortic aneurysms in neonates and infants are rare and are usually associated with infection, vasculitis, connective tissue disorder, or iatrogenic trauma such as umbilical catheterization. An idiopathic congenital abdominal aortic aneurysm is the least common category and there are few descriptions of the imaging features. We present the antenatal and postnatal imaging findings of an idiopathic congenital abdominal aortic aneurysm including the findings on US, MRI and CT. (orig.)

  8. Primary position and listing's law in acquired and congenital trochlear nerve palsy.

    Science.gov (United States)

    Straumann, Dominik; Steffen, Heimo; Landau, Klara; Bergamin, Oliver; Mudgil, Ananth V; Walker, Mark F; Guyton, David L; Zee, David S

    2003-10-01

    In ocular kinematics, the primary position (PP) of the eye is defined by the position from which movements do not induce ocular rotations around the line of sight (Helmholtz). PP is mathematically linked to the orientation of Listing's plane. This study was conducted to determine whether PP is affected differently in patients with clinically diagnosed congenital (conTNP) and acquired (acqTNP) trochlear nerve palsy. Patients with unilateral conTNP (n = 25) and acqTNP (n = 9) performed a modified Hess screen test. Three-dimensional eye positions were recorded with dual search coils. PP in eyes with acqTNP was significantly more temporal (mean: 21.2 degrees ) than in eyes with conTNP (6.8 degrees ) or healthy eyes (7.2 degrees ). In the pooled data of all patients, the horizontal location of PP significantly correlated with vertical noncomitance with the paretic eye in adduction (R = 0.59). Using a computer model, PP in acqTNP could be reproduced by a neural lesion of the superior oblique (SO) muscle. An additional simulated overaction of the inferior oblique (IO) muscle moved PP back to normal, as in conTNP. Lengthening the SO and shortening the IO muscles could also simulate PP in conTNP. The temporal displacement of PP in acqTNP is a direct consequence of the reduced force of the SO muscle. The reversal of this temporal displacement of PP, which occurs in some patients with conTNP, can be explained by a secondary overaction of the IO muscle. Alternatively, length changes in the SO and IO muscles, or other anatomic anomalies within the orbit, without a neural lesion, may also explain the difference in location of PP between conTNP and acqTNP.

  9. Intraocular pressure measurement by three different tonometers in primary congenital glaucoma

    Directory of Open Access Journals (Sweden)

    Athar Zareei

    2015-01-01

    Full Text Available Purpose: To determine the agreement between intraocular pressure (IOP measurements using an automated non-contact tonometer (NCT, Goldmann applanation tonometer (GAT, and the ocular response analyzer (ORA in subjects with primary congenital glaucoma (PCG. Methods: Twenty-nine eyes of 17 PCG patients underwent IOP measurements using NCT, GAT and ORA. Variables obtained by the ORA were corneal-compensated IOP (IOPcc, Goldmann-correlated IOP (IOPg, corneal hysteresis (CH, and corneal resistance factor (CRF. A difference more than 1.5 mmHg for IOP was considered as clinically relevant. Results: Mean age of the patients was 12 years. Mean IOP (±standard deviation, SD was 15.3 ± 2.8 mmHg (GAT, 15.5 ± 6.0 (NCT, 19.2 ± 7.0 (IOPg, and 21.1 ± 7.9 (IOPcc; (P = 0.001. Except for NCT vs. GAT (P = 1.0, the average IOP difference between each pair of measurements was clinically relevant. The 95% limits of agreements were − 10.2 to 10.3 mmHg (NCT vs. GAT, −7.8 to 15.3 (IOPg vs. GAT, and − 8.1 to 19.0 (IOPcc vs. GAT. The differences in IOP measurements increased significantly with higher average IOP values (r = 0.715, P = 0.001, for NCT vs. GAT; r = 0.802, P < 0.001, for IOPg vs. GAT; and r = 0.806, P < 0.001, for IOPcc vs. GAT. CH showed a significant association with differences in IOP measurements only for IOPcc vs. GAT (r = 0.830, P < 0.001. Conclusion: Mean IOP obtained by NCT was not significantly different from that of GAT, but ORA measured IOPs were significantly higher than both other devices.

  10. Intraocular pressure measurement by three different tonometers in primary congenital glaucoma.

    Science.gov (United States)

    Zareei, Athar; Razeghinejad, Mohammad Reza; Nowroozzadeh, Mohammad Hosein; Mehrabi, Yadollah; Aghazadeh-Amiri, Mohammad

    2015-01-01

    To determine the agreement between intraocular pressure (IOP) measurements using an automated non-contact tonometer (NCT), Goldmann applanation tonometer (GAT), and the ocular response analyzer (ORA) in subjects with primary congenital glaucoma (PCG). Twenty-nine eyes of 17 PCG patients underwent IOP measurements using NCT, GAT and ORA. Variables obtained by the ORA were corneal-compensated IOP (IOPcc), Goldmann-correlated IOP (IOPg), corneal hysteresis (CH), and corneal resistance factor (CRF). A difference more than 1.5 mmHg for IOP was considered as clinically relevant. Mean age of the patients was 12 years. Mean IOP (±standard deviation, SD) was 15.3 ± 2.8 mmHg (GAT), 15.5 ± 6.0 (NCT), 19.2 ± 7.0 (IOPg), and 21.1 ± 7.9 (IOPcc); (P = 0.001). Except for NCT vs. GAT (P = 1.0), the average IOP difference between each pair of measurements was clinically relevant. The 95% limits of agreements were - 10.2 to 10.3 mmHg (NCT vs. GAT), -7.8 to 15.3 (IOPg vs. GAT), and - 8.1 to 19.0 (IOPcc vs. GAT). The differences in IOP measurements increased significantly with higher average IOP values (r = 0.715, P = 0.001, for NCT vs. GAT; r = 0.802, P < 0.001, for IOPg vs. GAT; and r = 0.806, P < 0.001, for IOPcc vs. GAT). CH showed a significant association with differences in IOP measurements only for IOPcc vs. GAT (r = 0.830, P < 0.001). Mean IOP obtained by NCT was not significantly different from that of GAT, but ORA measured IOPs were significantly higher than both other devices.

  11. Contribution of CYP1B1 mutations and founder effect to primary congenital glaucoma in Mexico.

    Science.gov (United States)

    Zenteno, Juan Carlos; Hernandez-Merino, Elena; Mejia-Lopez, Herlinda; Matías-Florentino, Margarita; Michel, Norma; Elizondo-Olascoaga, Celia; Korder-Ortega, Vincent; Casab-Rueda, Homero; Garcia-Ortiz, Jose Elias

    2008-01-01

    The frequency of primary congenital glaucoma (PCG)-causing CYP1B1 mutations varies importantly among distinct populations, ranging from 20% in Indonesians and Japanese to about 100% among the Saudi Arabians and Slovakian Gypsies. Thus, the molecular characterization of large groups of PCG from different ethnic backgrounds is important to establish the actual CYP1B1 contribution in specific populations. In this work, the molecular analysis of the CYP1B1 gene in a group of Mexican PCG patients is reported. Thirty unrelated Mexican patients fulfilling the clinical criteria for PCG were included. Two cases were familial and with proven consanguinity, originating from distinct regions of the country. Polymerase chain reaction amplification and direct automated sequencing of the CYP1B1 coding region was performed in each participating subject. An identical pathogenic CYP1B1 mutation was demonstrated in 2 unrelated PCG subjects. The mutation consisted of a homozygous G to A transition at nucleotide position 1505 in exon 3, which predicted a substitution of glutamic acid for lysine at residue 387 of the protein (E387K). In the remaining 28 PCG subjects, no deleterious mutations were identified. Both subjects with the E387K mutation shared a same haplotype for 5 CYP1B1 intragenic single nucleotide polymorphisms, indicating a common origin of the allele. Mexican patients with PCG are rarely (less than 10%) due to CYP1B1 mutations. Available data indicate that most of the non-Brazilian Latin American PCG patients investigated to date are not due to CYP1B1 defects. Populations with low incidence of CYP1B1 mutations are appropriate candidates for the identification of novel PCG-causing genes.

  12. Ventriculoperitoneal shunt for treatment of hydrocephalus in a French bulldog puppy

    Science.gov (United States)

    Giacinti, Jolene A.

    2016-01-01

    A 6.5-week-old bulldog was presented with lethargy, anorexia, and stunted growth. A domed skull, ventrolateral strabismus, hypermetria, and delayed hopping were observed. Congenital hydrocephalus was diagnosed and a ventriculoperitoneal shunt was placed. After surgery, a shunt obstruction occurred but resolved with treatment. The puppy responded well and neurological deficits continued to improve after surgery. PMID:26933271

  13. Hydrocephalus and intestinal aganglionosis : Is L1CAM a modifier gene in Hirschsprung disease?

    NARCIS (Netherlands)

    Parisi, MA; Kapur, RP; Neilson, [No Value; Hofstra, RMW; Holloway, LW; Michaelis, RC; Leppig, KA

    2002-01-01

    Congenital hydrocephalus associated with aqueductal stenosis and/or agenesis of the corpus callosum has been described in newborn males with mutations in L1CAM, a gene that encodes a neural cell adhesion molecule. These males usually have severe mental retardation and may have spastic paraplegia and

  14. SNX27 Deletion Causes Hydrocephalus by Impairing Ependymal Cell Differentiation and Ciliogenesis.

    Science.gov (United States)

    Wang, Xin; Zhou, Ying; Wang, Jian; Tseng, I-Chu; Huang, Timothy; Zhao, Yingjun; Zheng, Qiuyang; Gao, Yue; Luo, Hong; Zhang, Xian; Bu, Guojun; Hong, Wanjin; Xu, Huaxi

    2016-12-14

    therapeutic interest to congenital hydrocephalus. Copyright © 2016 the authors 0270-6474/16/3612586-12$15.00/0.

  15. Educational intervention in Primary Care for the prevention of congenital syphilis.

    Science.gov (United States)

    Lazarini, Flaviane Mello; Barbosa, Dulce Aparecida

    2017-01-30

    to evaluate the efficiency of educational interventions related to the knowledge of health care professionals of Primary Care and to verify the impact on the vertical transmission rates of congenital syphilis. a quasi-experimental study conducted in the city of Londrina, Paraná, between 2013 and 2015. An educational intervention on diagnosis, treatment and notification was carried out with 102 professionals with knowledge measurement before and after the intervention. Incidence and mortality data from congenital syphilis were taken from the system for notifiable diseases (SINAN) and the Mortality Information System (SIM). Excel tabulation and statistical analysis was done in the Statistical Package for Social Sciences, version 2.1. A descriptive and inferential analysis was performed. the mean number of correct responses increased from 53% to 74.3% after the intervention (p mortalidade pela sífilis congênita foram retirados do Sistema de Informação de Agravos de Notificação (SINAN) e do Sistema de Informação sobre Mortalidade (SIM). A tabulação em Excel e a análise estatística no Statistical Package for Social Sciences, versão 2.1. Realizou-se análise descritiva e inferencial. a média de respostas corretas passou de 53% para 74,3% após a intervenção (p mortalidade infantil por esse agravo. a intervenção educacional aumentou significativamente o conhecimento dos profissionais de saúde sobre a sífilis e colaborou para a redução da taxa de transmissão vertical do agravo. evaluar la eficiencia de la intervención educacional en el conocimiento de los profesionales de la salud de la Atención Primaria y verificar el impacto en las tasas de transmisión vertical de la sífilis congénita. estudio casi experimental, realizado en la ciudad de Londrina, Paraná, en el período entre 2013 y 2015. Fue realizada una intervención educacional sobre diagnóstico, tratamiento y notificación, con 102 profesionales, midiendo el conocimiento antes y despu

  16. Quantitative RI cisternography in hydrocephalus

    International Nuclear Information System (INIS)

    Hara, Masao; Kayamori, Ryo; Sato, Kazuaki; Miyazawa, N.

    1975-01-01

    Ventriculography and cisterography with 131 I-HSA, and 167 Yb-DTPA were performed in patients with obstructive and normal-pressure hydrocephalus. Radioactivity in the head, blood counts and excretions in the urine were determined. In the patients with obstructive hydrocephalus, the radioactivity reduction in the head was late by the ventricular injection, while it was normal by the lumbar puncture. In the patients with normal-pressure hydrocephalus, the radioactivity reduction curve varied both by the ventricular injection and the lumbar puncture. However, these did not indicate the results of the shunt operation. The external determination of the rate of reduction of radioactivity in the head were parallel with blood radioactivity the urinary excretion rate. In the patients with normal-pressure hydrocephalus, the absorption rate of the spinal fluid decreased independently from the radioactivity curve in the head. (Saito, K.)

  17. MR imaging features of hydrocephalus

    International Nuclear Information System (INIS)

    Zinn, W.; George, A.E.; Leon, M.J. de; Pinto, R.S.; Litt, A.W.; Kricheff, I.I.

    1990-01-01

    This paper compares the midsagittal dimensions of the third and lateral ventricles on MR images in cases of known hydrocephalus and atrophy. Cranial MR studies of 55 age-matched patients, 21 with known hydrocephalus and 28 with atrophy were retrospectively reviewed. Measurements of the genu-to-splenium diameter (G-S) and anterior commissure to corpus callosum distance (AC-CC) were obtained. A volumetric index (VI) was calculated as (G-S) x (AC-CC), and a ratio was calculated as (AC-CC)/(G-S). The volumetric index (VI) was 22% larger in the hydrocephalus group (Student two-tail t test, P > .001,t = -4.23). Sixty-two percent of hydrocephalus patients had either ratios greater than 56% or VIs of a least 20 cm 2

  18. MRI and hydrocephalus in childhood

    International Nuclear Information System (INIS)

    Britton, J.; Marsh, H.; Kendall, B.; Kingsley, D.

    1988-01-01

    In six young patients presenting with raised intracranial pressure during the period of a year, CT revealed the presence of hydrocephalus, but not the cause. Magnetic Resonance Imaging not only showed the site and nature of the obstructing lesion, but also detected additional clinically silent spinal cord tumors in five of the patients. The place of MRI in the diagnosis of diseases involving the region of the cranio-cervical junction and in the elucidation of 'unexplained hydrocephalus' is considered. (orig.)

  19. Enhanced peripheral visual processing in congenitally deaf humans is supported by multiple brain regions, including primary auditory cortex

    Directory of Open Access Journals (Sweden)

    Gregory D. Scott

    2014-03-01

    Full Text Available Brain reorganization associated with altered sensory experience clarifies the critical role of neuroplasticity in development. An example is enhanced peripheral visual processing associated with congenital deafness, but the neural systems supporting this have not been fully characterized. A gap in our understanding of deafness-enhanced peripheral vision is the contribution of primary auditory cortex. Previous studies of auditory cortex that use anatomical normalization across participants were limited by inter-subject variability of Heschl’s gyrus. In addition to reorganized auditory cortex (cross-modal plasticity, a second gap in our understanding is the contribution of altered modality-specific cortices (visual intramodal plasticity in this case, as well as supramodal and multisensory cortices, especially when target detection is required across contrasts. Here we address these gaps by comparing fMRI signal change for peripheral versus perifoveal visual stimulation (11-15° vs. 2°-7° in congenitally deaf and hearing participants in a blocked experimental design with two analytical approaches: a Heschl’s gyrus region of interest analysis and a whole brain analysis. Our results using individually-defined primary auditory cortex (Heschl’s gyrus indicate that fMRI signal change for more peripheral stimuli was greater than perifoveal in deaf but not in hearing participants. Whole-brain analyses revealed differences between deaf and hearing participants for peripheral versus perifoveal visual processing in extrastriate visual cortex including primary auditory cortex, MT+/V5, superior-temporal auditory and multisensory and/or supramodal regions, such as posterior parietal cortex, frontal eye fields, anterior cingulate, and supplementary eye fields. Overall, these data demonstrate the contribution of neuroplasticity in multiple systems including primary auditory cortex, supramodal and multisensory regions, to altered visual processing in

  20. Hydrocephalus secondary to subarachnoid hemorrhage

    International Nuclear Information System (INIS)

    Koga, Nobunori; Nakamura, Saburo; Kushi, Hidehiko; Yamamoto, Takamitsu; Tsubokawa, Takashi; Moriyasu, Nobuo

    1982-01-01

    The relationship between the extension and severity of subarachnoid hemorrhage, as demonstrated by computed tomography (CT), and hydrocephalus secondary to subarachnoid hemorrhage was studied. In 94 cases with subarachnoid hemorrhage, as analyzed by CT scan performed within 7 days after onset, high-density areas in the subarachnoid space were recognized in 61 cases (64%) and secondary hydrocephalus occurred in 22 cases (23%). 17 cases died within 2 weeks, before the occurrence of the hydrocephalus. The CT findings of subarachnoid hemorrhage was classified into 5 types, according to its severity and extension; especially the degree of high density in the basal cistern and/or cisterns around the brain stem was remarked. Secondary hydrocephalus after subarachnoid hemorrhage was observed in 90% of the cases; they had a density higher than a CT number of 60 in the basal cistern and/or cisterns around the brain stem (Type V). The mean interval between the onset of subarachnoid hemorrhage and the appearance of hydrocephalus was 20.6 days. We conclude that a significantly high density of extravasated blood in the subarachnoid space, especially in the basal cistern and/or the cisterns around the brain stem, can be predictive of secondary hydrocephalus after subarachnoid hemorrhage. (author)

  1. CYP1B1 and MYOC Mutations in Vietnamese Primary Congenital Glaucoma Patients.

    Science.gov (United States)

    Do, Tan; Shei, William; Chau, Pham Thi Minh; Trang, Doan Le; Yong, Victor H K; Ng, Xiao Yu; Chen, Yue Ming; Aung, Tin; Vithana, Eranga N

    2016-05-01

    Primary congenital glaucoma (PCG, OMIM 231300), the most common glaucoma in infancy, is caused by developmental defects in the anterior chamber angle. The 3 implicated genes are cytochrome P450 family I subfamily B polypeptide 1 (CYP1B1), latent transforming growth factor β-binding protein 2 (LTBP2), and myocilin (MYOC). In this study, we sought to determine CYP1B1 and MYOC sequence variations in a Vietnamese cohort of index cases with PCG and their families. Thirty Vietnamese subjects with PCG and 120 normal Vietnamese subjects were recruited. PCG was defined by the presence of at least 2 of the following clinical manifestations: increased corneal diameter (>10 mm at birth), corneal edema, Haab's striae, optic disc changes, and absence of other ocular or systemic diseases associated with childhood glaucoma. The coding exons, intron and exon boundaries, and untranslated regions of CYP1B1 and MYOC genes were PCR amplified and subjected to bidirectional sequencing in all subjects. We identified 2 homozygous and 3 heterozygous CYP1B1 sequence alterations in our study subjects. Among the 5 mutations identified, 2 (p.H279L and p.L283F) were novel mutations, whereas 3 (p.A121_S122insDRPAFA, p.L107V, and p.V320L) had been previously reported in PCG cases. None of these mutations was observed in any of the 120 controls. Haplotypes generated with 6 non-disease-causing intragenic single nucleotide polymorphisms detected in CYP1B1 indicated that the most common haplotype in Vietnamese population is similar to that found in Chinese and Japanese. The genotype-phenotype correlation showed no significant difference between mutation and no-mutation groups for quantitative clinical features (presenting intraocular pressure, corneal diameter, number of surgeries performed, the cup-to-disc ratio) as well as for qualitative factors (bilateral cases, phenotype severity, and the prognosis) (P>0.05). Five out of 30 families with PCG (16.7%) had disease attributable to CYP1B1 alterations

  2. Epidemiology of adult-onset hydrocephalus: institutional experience with 2001 patients.

    Science.gov (United States)

    Bir, Shyamal C; Patra, Devi Prasad; Maiti, Tanmoy K; Sun, Hai; Guthikonda, Bharat; Notarianni, Christina; Nanda, Anil

    2016-09-01

    OBJECTIVE Adult-onset hydrocephalus is not commonly discussed in the literature, especially regarding its demographic distribution. In contrast to pediatric hydrocephalus, which is related to a primary CSF pathway defect, its development in adults is often secondary to other pathologies. In this study, the authors investigated the epidemiology of adult-onset hydrocephalus as it pertains to different etiologies and in reference to age, sex, and race distributions. METHODS The authors retrospectively reviewed the clinical notes of 2001 patients with adult-onset hydrocephalus who presented to Louisiana State University Health Sciences Center within a 25-year span. Significant differences between the groups were analyzed by a chi-square test; p hydrocephalus in this population was 77 ± 30 per year, with a significant increase in incidence in the past decade (55 ± 3 [1990-2003] vs 102 ± 6 [2004-2015]; p Hydrocephalus in a majority of the patients had a vascular etiology (45.5%) or was a result of a tumor (30.2%). The incidence of hydrocephalus in different age groups varied according to various pathologies. The incidence was significantly higher in males with normal-pressure hydrocephalus (p = 0.03) or head injury (p = 0.01) and higher in females with pseudotumor cerebri (p hydrocephalus was significantly higher in Caucasian patients (p = 0.0002) than in those of any other race. CONCLUSIONS Knowledge of the demographic variations in adult-onset hydrocephalus is helpful in achieving better risk stratification and better managing the disease in patients. For general applicability, these results should be validated in a large-scale meta-analysis based on a national population database.

  3. The genetics of congenital heart disease… understanding and improving long-term outcomes in congenital heart disease: a review for the general cardiologist and primary care physician.

    Science.gov (United States)

    Simmons, M Abigail; Brueckner, Martina

    2017-10-01

    This review has two purposes: to provide an updated review of the genetic causes of congenital heart disease (CHD) and the clinical implications of these genetic mutations, and to provide a clinical algorithm for clinicians considering a genetics evaluation of a CHD patient. A large portion of congenital heart disease is thought to have a significant genetic contribution, and at this time a genetic cause can be identified in approximately 35% of patients. Through the advances made possible by next generation sequencing, many of the comorbidities that are frequently seen in patients with genetic congenital heart disease patients can be attributed to the genetic mutation that caused the congenital heart disease. These comorbidities are both cardiac and noncardiac and include: neurodevelopmental disability, pulmonary disease, heart failure, renal dysfunction, arrhythmia and an increased risk of malignancy. Identification of the genetic cause of congenital heart disease helps reduce patient morbidity and mortality by improving preventive and early intervention therapies to address these comorbidities. Through an understanding of the clinical implications of the genetic underpinning of congenital heart disease, clinicians can provide care tailored to an individual patient and continue to improve the outcomes of congenital heart disease patients.

  4. Correlations between different tonometries and ocular biometric parameters in patients with primary congenital glaucoma.

    Science.gov (United States)

    Mendes, Marcio Henrique; Betinjane, Alberto Jorge; Quiroga, Veronica Andrea

    2013-01-01

    To identify the correlation between the difference of intraocular pressure measurements (IOP) obtained using the Goldmann applanation tonometer (GAT) and three others tonometers (Handheld applanation tonometer - HAT, Dynamic contour tonometer - DCT and Tono-Pen®) with biometric characteristics (corneal diameter, pachymetry, keratometry and axial length) in patients with congenital glaucoma. A cross-sectional study was performed on 46 eyes from 46 patients with congenital glaucoma. IOP measurements were obtained in all patients using GAT, HAT, DCT and Tono-Pen®. Keratometry, pachymetry, biometry and corneal diameter measurements were performed after the IOP measurement. The order of the tonometries was randomized. The correlations between the differences of IOP values of GAT and the other tonometers (Delta-IOP), and the different biometric parameters were studied. Tono-Pen® Delta IOP revealed moderate positive correlation to keratometry (r=0.41, p=0.004). The other Delta-IOPs showed no correlation with any of the biometric characteristics evaluated. IOP differences between GAT (gold standard) and GAT, HAT, DCT or Tono-Pen tonometers seem not to correlate with majority of ocular biometric characteristics. The only exception was the keratometry, which correlated in a positive and moderate way with Tono-Pen® Delta-IOP. This result suggests that the differences of IOP values of Tono-Pen® and GAT increase with the steepness of the cornea.

  5. Large vestibular schwannomas and hydrocephalus: Lessons learnt from a single centre experience

    Directory of Open Access Journals (Sweden)

    Prakash Nair

    2014-01-01

    Full Text Available Aim: The aim of the following study is to analyze the outcome following surgery in 169 patients with large vestibular schwannoma (VS and to evaluate hydrocephalus as a prognostic factor in patients of the VSs. Subjects and Methods: Retrospective analysis of all cases of VSs admitted to our tertiary neurosurgical center from January 2005 to December 2010 was performed. Comparison of patients who underwent pre-operative cerebrospinal fluid (CSF diversion and those who underwent primary surgery was carried out for post-operative complications and delayed hydrocephalus. Results: A total of 169 patients of VS were seen. The mean age at presentation was 39.03 years (12-72 years. The most common symptom was hearing loss seen in 161 (95.2% cases. Giant VS was seen in 130 (75.5% and hydrocephalus was present in 110 (63.9%. Pre-operative CSF diversion was done in 23 (13.1% patients; 8 (4.6% patients developed gradually symptomatic hydrocephalus following surgery and underwent ventriculoperitoneal shunt. Total surgical excision was done in 92.9% patients and subtotal excision was done in 7% patients. Conclusions: Hydrocephalus occurs in longstanding untreated cases of VS. Hydrocephalus causes no statistically significant increase in post-operative complications like CSF leak and post-operative hematoma. Patients with hydrocephalus presenting with acute symptoms of raised intracranial pressure benefit from CSF diversion. In most patients, tumor resection will restore patency of the CSF pathway and CSF diversion can be avoided.

  6. Pediatric hydrocephalus outcomes: a review

    Directory of Open Access Journals (Sweden)

    Vinchon Matthieu

    2012-08-01

    Full Text Available Abstract The outcome of pediatric hydrocephalus, including surgical complications, neurological sequelae and academic achievement, has been the matter of many studies. However, much uncertainty remains, regarding the very long-term and social outcome, and the determinants of complications and clinical outcome. In this paper, we review the different facets of outcome, including surgical outcome (shunt failure, infection and independence, and complications of endoscopy, clinical outcome (neurological, sensory, cognitive sequels, epilepsy, schooling and social integration. We then provide a brief review of the English-language literature and highlighting selected studies that provide information on the outcome and sequelae of pediatric hydrocephalus, and the impact of predictive variables on outcome. Mortality caused by hydrocephalus and its treatments is between 0 and 3%, depending on the duration of follow-up. Shunt event-free survival (EFS is about 70% at one year and 40% at ten years. The EFS after endoscopic third ventriculostomy (ETV appears better but likely benefits from selection bias and long-term figures are not available. Shunt infection affects between 5 and 8% of surgeries, and 15 to 30% of patients according to the duration of follow-up. Shunt independence can be achieved in 3 to 9% of patients, but the definition of this varies. Broad variations in the prevalence of cognitive sequelae, affecting 12 to 50% of children, and difficulties at school, affecting between 20 and 60%, attest of disparities among studies in their clinical evaluation. Epilepsy, affecting 6 to 30% of patients, has a serious impact on outcome. In adulthood, social integration is poor in a substantial number of patients but data are sparse. Few controlled prospective studies exist regarding hydrocephalus outcomes; in their absence, largely retrospective studies must be used to evaluate the long-term consequences of hydrocephalus and its treatments. This review

  7. Congenital anomalies of the neonatal head

    International Nuclear Information System (INIS)

    Benson, C.B.; Teele, R.L.; Dobkin, G.R.; Fine, C.; Bundy, A.L.; Doubilet, P.M.

    1987-01-01

    US is a noninvasive modality that has proved highly valuable in the assessment of congenital intracranial anomalies in the neonate. The patterns of malformation must be familiar to those who obtain and interpret neonatal cranial sonograms. The authors present a variety of cases of congenital anomalies studied with US, including agenesis of the corpus callosum, Dandy-Walker malformation, occipital enecphalocele, congenital hydrocephalus, vein of Galen aneurysm, hydranencephaly, holoprosencephaly, absence of the septum pellucidum, schizencephaly, and hypoplastic cerebellum. Correlation with other radiographic modalities and pathologic follow-up, available in a majority of cases, is included

  8. Our initial experience with ventriculo-epiplooic shunt in treatment of hydrocephalus in two centers.

    Science.gov (United States)

    Grigorean, Valentin Titus; Sandu, Aurelia Mihaela; Popescu, Mihai; Florian, Ioan Stefan; Lupascu, Cristian Dumitru; Ursulescu, Corina Lupascu

    Hydrocephalus represents impairment in cerebrospinal fluid (CSF) dynamics. If the treatment of hydrocephalus is considered difficult, the repeated revisions of ventriculo-peritoneal (VP) shunts are even more challenging. The aim of this article is to evaluate the efficiency of ventriculo-epiplooic (VEp) shunt as a feasible alternative in hydrocephalic patients. A technical modification regarding the insertion of peritoneal catheter was imagined: midline laparotomy 8-10cm long was performed in order to open the peritoneal cavity; the great omentum was dissected between its two layers; we placed the distal end of the catheter between the two epiplooic layers; a fenestration of 4cm in diameter into the visceral layer was also performed. A retrospective study of medical records of 15 consecutive patients with hydrocephalus treated with VEp shunt is also presented. Between 2008 and 2014 we performed VEp shunt in 15 patients: 5 with congenital hydrocephalus, 8 with secondary hydrocephalus and 2 with normal pressure hydrocephalus. There were 7 men and 8 women. VEp shunt was performed in 13 patients with multiple distal shunt failures and in 2 patients, with history of abdominal surgery, as de novo extracranial drainage procedure. The outcome was favorable in all cases, with no significant postoperative complications. VEp shunt is a new, safe and efficient surgical technique for the treatment of hydrocephalus. VEp shunt is indicated in patients with history of recurrent distal shunt failures, and in patients with history of open abdominal surgery and high risk for developing abdominal complications. Copyright © 2017 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

  9. Radionuclide cisternography in diagnostics of obstruction hydrocephalus in introduced ventricculoperitoneal shunt

    International Nuclear Information System (INIS)

    Cernochova, I.; Lipina, R.

    2004-01-01

    To confirm or exclude a diagnosis of internal obstruction hydrocephalus in an 8-year old girl with an introduced ventriculoperitoneal (V-P) shunt Establishing the V-P shunt is indisputably the route of choice in non-communicating hydrocephalus. The existence of a V-P shunt, however, is connected with numerous risks, especially of injuries, infection as well as increased intraabdominal pressure - e.g. in pregnancy. The development of endoscopy in neurosurgery allows the creation of communication via the bottom of the third ventricle with basal cisterns, and the subsequent cancellation of a V-P shunt. We describe the case of an 8-year old girl with congenital internal hydrocephalus with an assumed obliteration of the Sylvian aqueduct with an established V-P shunt. An MR scan described the membrane in the area of the Sylvian aqueduct, but the disproportion between the dilatation of the lateral ventricles, third ventricle and fourth ventricle led the physician to doubt as to the accuracy of the diagnosis of internal obstruction hydrocephalus. Therefore we performed a radionuclide cisternography (in a modified manner), which proved an existing communication between the third and fourth cerebral ventricle and which contradicted the clinical diagnosis of obstruction hydrocephalus. (author)

  10. European recommendations for primary prevention of congenital anomalies: A joined effort of EUROCAT and EUROPLAN projects to facilitate inclusion of this topic in the National Rare Disease Plans

    DEFF Research Database (Denmark)

    Taruscio, Domenica; Arriola, Larraitz; Baldi, Francesca

    2014-01-01

    Congenital anomalies (CA) are the paradigm example of rare diseases liable to primary prevention actions due to the multifactorial etiology of many of them, involving a number of environmental factors together with genetic predispositions. Yet despite the preventive potential, lack of attention t...

  11. Mathematics skills in good readers with hydrocephalus.

    Science.gov (United States)

    Barnes, Marcia A; Pengelly, Sarah; Dennis, Maureen; Wilkinson, Margaret; Rogers, Tracey; Faulkner, Heather

    2002-01-01

    Children with hydrocephalus have poor math skills. We investigated the nature of their arithmetic computation errors by comparing written subtraction errors in good readers with hydrocephalus, typically developing good readers of the same age, and younger children matched for math level to the children with hydrocephalus. Children with hydrocephalus made more procedural errors (although not more fact retrieval or visual-spatial errors) than age-matched controls; they made the same number of procedural errors as younger, math-level matched children. We also investigated a broad range of math abilities, and found that children with hydrocephalus performed more poorly than age-matched controls on tests of geometry and applied math skills such as estimation and problem solving. Computation deficits in children with hydrocephalus reflect delayed development of procedural knowledge. Problems in specific math domains such as geometry and applied math, were associated with deficits in constituent cognitive skills such as visual spatial competence, memory, and general knowledge.

  12. High Cytomegalovirus (CMV) DNAemia Predicts CMV Sequelae in Asymptomatic Congenitally Infected Newborns Born to Women With Primary Infection During Pregnancy.

    Science.gov (United States)

    Forner, Gabriella; Abate, Davide; Mengoli, Carlo; Palù, Giorgio; Gussetti, Nadia

    2015-07-01

    We investigated the kinetics of cytomegalovirus (CMV) clearance in blood and urine and the relationship between the viral load in blood at birth and the development of late-onset sequelae in asymptomatic congenital CMV infection. Thirty-three newborns with congenital asymptomatic CMV infection born to women with primary CMV infection during pregnancy were enrolled. CMV infection was monitored by polymerase chain reaction analysis of blood and urine. The follow-up examination was concluded at 6 years of age. Ten infants developed postnatal sequelae, whereas twenty-three infants remained asymptomatic. Fifty percent of babies cleared CMV in blood and urine within 3 and 36 months, respectively. Logistic multivariate regression revealed that the risk of neonatal clinical disease crossed the level of 50% with a DNAemia at birth of ≥ 12,000 copies/mL (P = .0002). The risk of hearing deficit crossed the level of 50% with a DNAemia at birth of ≥ 17,000 copies/mL (P = .0001). No significant difference was found between the kinetics of CMV clearance in asymptomatic children as compared to babies with late-onset disease. Asymptomatic newborns with a CMV DNAemia at birth of ≥ 12,000 copies/mL were more likely to experience CMV-related sequelae. The risk of hearing deficit increased with a viral load in blood of ≥ 17,000 copies/mL. © The Author 2014. Published by Oxford University Press on behalf of the Infectious Diseases Society of America. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  13. Neuroradiological findings in multiloculated hydrocephalus

    International Nuclear Information System (INIS)

    Albanese, V.; Tomasello, F.; Sampaolo, S.; Picozzi, P.

    1982-01-01

    The characteristic neuroradiological features of multiloculated hydrocephalus following neonatal meningitis and ventriculitis in five infants are presented. The role of ventriculography and computerized tomography in detecting multiloculated and enlarged ventricles and paraventricular cavities, as well as complete and incomplete septa, is emphasized for early diagnosis and surgical management. CT scan also provides clues indicating the presence of thin but not visualized septa. It is suggested that post-meningitic hydrocephalus should be repeatedly followed-up for detection of multiloculated transformation. Probably this entity occurs less uncommonly than was thought in the past. The CT scan appears the most helpful and safe procedure for the serial evaluation, but ventriculography may be usefully combined with it in order to plan the most suitable operative approach for fenestration of membranes. (Author)

  14. Benign communicating hydrocephalus in children

    International Nuclear Information System (INIS)

    Kendall, B.; Holland, I.

    1981-01-01

    A review was performed of the computed tomograms (CTs) of 500 children which had been reported as showing widening of the supratentorial subarachnoid spaces with normal cerebral substance. On the basis of this a radiological diagnosis of cerebral atrophy had been made in all but five, who were said to have mengalencephaly. From these, the children with large or abnormally enlarging heads, but normal or only slightly enlarged ventricles, were selected; there were 40 such cases (8%). The clinical condition either improved or remained stable over a period of 2 years; in the majority the scan abnormality regressed (22.5%) or remained static (67.5%). In three cases there was slight progression of the CT changes before stabilisation, but only one case developed classical communicating hydrocephalus necessitating a shunt procedure. This condition is a generally benign and mild form of communicating hydrocephalus, for which an aetiological factor was apparent in about two-thirds of the cases studied. (orig.)

  15. Neuroradiological findings in multiloculated hydrocephalus

    Energy Technology Data Exchange (ETDEWEB)

    Albanese, V.; Tomasello, F.; Sampaolo, S.; Picozzi, P. (Naples Univ. (Italy). Inst. of Neurosurgery)

    1982-01-01

    The characteristic neuroradiological features of multiloculated hydrocephalus following neonatal meningitis and ventriculitis in five infants are presented. The role of ventriculography and computerized tomography in detecting multiloculated and enlarged ventricles and paraventricular cavities, as well as complete and incomplete septa, is emphasized for early diagnosis and surgical management. CT scan also provides clues indicating the presence of thin but not visualized septa. It is suggested that post-meningitic hydrocephalus should be repeatedly followed-up for detection of multiloculated transformation. Probably this entity occurs less uncommonly than was thought in the past. The CT scan appears the most helpful and safe procedure for the serial evaluation, but ventriculography may be usefully combined with it in order to plan the most suitable operative approach for fenestration of membranes.

  16. Clinical and morphological characteristics of malformations in infants with congenital cytomegalovirus infection and congenital toxoplasmosis

    Directory of Open Access Journals (Sweden)

    L. Yu. Barycheva

    2015-01-01

    Full Text Available The results of following up infants with intrauterine infections and malformations were retrospectively analyzed. Infants with malformations were diagnosed as having congenital cytomegalovirus infection and congenital toxoplasmosis in 127 and 69 cases, respectively. The aim of the study was to characterize malformations in infants with congenital cytomegalovirus and congenital Toxoplasma infections. The infants with malformations in congenital cytomegalovirus infection were found to have higher mortality rates (61,4% than those with congenital toxoplasmosis (34,8%. Postmortem analysis indicated that there was a predominance of embryopathies in infants with congenital cytomegalovirus infection and that of fetopathies in those with congenital toxoplasmosis. The dead infants with congenital cytomegalovirus infection had more commonly developed visceral defects, including heart diseases, pneumopathies, gastrointestinal and genitourinary abnormalities; fetopathies of the central nervous system and eye were prevalent in congenital toxoplasmosis. The surviving children with congenital toxoplasmosis were more frequently observed to have disabling CNS and ocular sequels as obstructive hydrocephalus, infantile cerebral palsy, complete or partial blindness, and cerebrasthenic disorders than those with congenital cytomegalovirus infection. 

  17. Pediatric Hydrocephalus in Ethiopia: Treatment Failures and Infections: A Hospital-Based, Retrospective Study.

    Science.gov (United States)

    Laeke, Tsegazeab; Tirsit, Abenezer; Biluts, Hagos; Murali, Deeptha; Wester, Knut

    2017-04-01

    Treatment of pediatric hydrocephalus in sub-Saharan countries is associated with significant complication rates. The objective of this study is to analyze the management of hydrocephalus and complication rates of surgical intervention in the Ethiopian setting to improve future quality. A retrospective cohort study was conducted in a neurosurgical teaching hospital. Two cohorts separated by 2.5 years were analyzed. A total of 128 (58.6% male and 41.4% female) children with isolated hydrocephalus, meningomyelocele (MMC)-related hydrocephalus, or MMC without hydrocephalus were included. Their age ranged from 1 day to 5 years, for a mean age of 7.2 months (median age 2 months). One hundred thirteen patients had hydrocephalus, of whom 57 (44.5.3%) had isolated hydrocephalus and 56 (43.8%) had hydrocephalus associated with MMC. Seventy-seven (74.7%) patients underwent ventriculoperitoneal (VP) shunting, whereas 24 (23.3%) underwent endoscopic third ventriculostomy (ETV). The incidence of shunt infection was 23.4%. Reoperation was needed in 54 (52.4%) patients, with the most common indication being shunt failure. ETV failed in 14 (58.3%) of the 24 patients undergoing ETV. VP shunt insertions had unacceptably high infection rate despite the presence of a protocol for the procedure. Intraoperative guidelines should be developed further and followed strictly to reduce infections. Such measures should include restricting the number of surgeons performing the procedure. In our opinion, one should avoid insertion of a VP shunt as the primary treatment. ETV has proved to be a good alternative in other studies and the decreasing pattern of ETV failure in our study also suggest ETV as a better alternative to VP shunt. Copyright © 2016 The Author(s). Published by Elsevier Inc. All rights reserved.

  18. Disruption of the mouse Jhy gene causes abnormal ciliary microtubule patterning and juvenile hydrocephalus

    Science.gov (United States)

    Appelbe, Oliver K.; Bollman, Bryan; Attarwala, Ali; Triebes, Lindy A.; Muniz-Talavera, Hilmarie; Curry, Daniel J.; Schmidt, Jennifer V.

    2013-01-01

    SUMMARY Congenital hydrocephalus, the accumulation of excess cerebrospinal fluid (CSF) in the ventricles of the brain, affects one of every 1,000 children born today, making it one of the most common human developmental disorders. Genetic causes of hydrocephalus are poorly understood in humans, but animal models suggest a broad genetic program underlying the regulation of CSF balance. In this study, the random integration of a transgene into the mouse genome led to the development of an early onset and rapidly progressive hydrocephalus. Juvenile hydrocephalus transgenic mice (JhylacZ) inherit communicating hydrocephalus in an autosomal recessive fashion with dilation of the lateral ventricles observed as early as postnatal day 1.5. Ventricular dilation increases in severity over time, becoming fatal at 4-8 weeks of age. The ependymal cilia lining the lateral ventricles are morphologically abnormal and reduced in number in JhylacZ/lacZ brains, and ultrastructural analysis revealed disorganization of the expected 9+2 microtubule pattern. Rather, the majority of JhylacZ/lacZ cilia develop axonemes with 9+0 or 8+2 microtubule structures. Disruption of an unstudied gene, 4931429I11Rik (now named Jhy) appears to underlie the hydrocephalus of JhylacZ/lacZ mice, and the Jhy transcript and protein are decreased in JhylacZ/lacZ mice. Partial phenotypic rescue was achieved in JhylacZ/lacZ mice by the introduction of a bacterial artificial chromosome (BAC) carrying 60-70% of the JHY protein coding sequence. Jhy is evolutionarily conserved from humans to basal vertebrates, but the predicted JHY protein lacks identifiable functional domains. Ongoing studies are directed at uncovering the physiological function of JHY and its role in CSF homeostasis. PMID:23906841

  19. A case of primary familial congenital polycythemia with a novel EPOR mutation: possible spontaneous remission/alleviation by menstrual bleeding.

    Science.gov (United States)

    Toriumi, Naohisa; Kaneda, Makoto; Hatakeyama, Naoki; Manabe, Hiromi; Okajima, Kazuki; Sakurai, Yukari; Yamamoto, Masayo; Sarashina, Takeo; Ikuta, Katsuya; Azuma, Hiroshi

    2018-04-05

    A 10-year-old girl with persistent erythrocytosis and ruddy complexion was diagnosed with primary familial congenital polycythemia (PFCP) involving a novel heterozygous mutation of c.1220C>A, p.Ser407X in exon 8 of the erythropoietin receptor gene (EPOR). This mutation causes truncation of EPOR, resulting in loss of the cytoplasmic region, which is necessary for negative regulation of erythropoietin signal transmission. Genetic analysis showed that the mutated EPOR was inherited from her mother. Her mother had polycythemia and had undergone venesection several times when she was young, but her polycythemic state appeared to have resolved. Venesection was not needed to maintain Hct levels within normal range. For the case reported here, venesection was also conducted to maintain the blood Hct level below 50%. We observed that after the patient experienced menarche, the volume and frequency of venesection needed to maintain Hct level < 50% were clearly reduced compared with those before menarche. These findings suggest that, in female patients with this type of EPOR mutation, menstruation might reduce blood volume in a manner similar to venesection. Spontaneous remission of erythrocytosis may thus occur after the start of menstrual bleeding.

  20. Surgical results of trabeculectomy and Ahmed valve implantation following a previous failed trabeculectomy in primary congenital glaucoma patients.

    Science.gov (United States)

    Lee, Naeun; Ma, Kyoung Tak; Bae, Hyoung Won; Hong, Samin; Seong, Gong Je; Hong, Young Jae; Kim, Chan Yun

    2015-04-01

    To compare the surgical results of trabeculectomy and Ahmed glaucoma valve implantation after a previous failed trabeculectomy. A retrospective comparative case series review was performed on 31 eye surgeries in 20 patients with primary congenital glaucoma who underwent trabeculectomy or Ahmed glaucoma valve implantation after a previous failed trabeculectomy with mitomycin C. The preoperative mean intraocular pressure was 25.5 mmHg in the trabeculectomy group and 26.9 mmHg in the Ahmed glaucoma valve implantation group (p = 0.73). The 48-month postoperative mean intraocular pressure was 19.6 mmHg in the trabeculectomy group and 20.2 mmHg in the Ahmed glaucoma valve implantation group (p = 0.95). The 12-month trabeculectomy success rate was 69%, compared with 64% for Ahmed glaucoma valve implantation, and the 48-month success rates were 42% and 36% for trabeculectomy and valve implantation, respectively. The success rates following the entire follow-up period were not significantly different between the two groups (p > 0.05 by log rank test). Postoperative complications occurred in 25% of the trabeculectomy-operated eyes and 9% of the Ahmed-implanted eyes (p = 0.38). There was no significant difference in surgical outcome between the trabeculectomy and Ahmed glaucoma valve implantation groups, neither of which had favorable results. However, the trabeculectomy group demonstrated a higher prevalence of adverse complications such as post-operative endophthalmitis.

  1. Generation of a human induced pluripotent stem cell line from urinary cells of a patient with primary congenital glaucoma using integration free Sendai technology.

    Science.gov (United States)

    Zhang, Jingxue; Wu, Shen; Hu, Man; Liu, Qian

    2018-04-09

    We have generated a human induced pluripotent stem cell (iPSC) line derived from urinary cells of a 10years old patient with primary congenital glaucoma (PCG). The cells were reprogrammed with the human OSKM transcription factors using the Sendai-virus delivery system and shown to have full differentiation potential. The line is available and registered in the human pluripotent stem cell registry as BIOi001-A. Copyright © 2018 The Authors. Published by Elsevier B.V. All rights reserved.

  2. Imaging of the ventriculoperitoneal shunt-related complications in infants and children with hydrocephalus

    International Nuclear Information System (INIS)

    Jeon, Se Ok; Kim, Ji Hye; Oh, Eun Young; Hwang, Hee Young; Lee, Seon Kyu; Lee, Eun Joo; Kwak, Min Sook; Kim, Hyung Sik

    1999-01-01

    To evaluate the frequency and imaging findings of various ventriculo-peritoneal shunt-related complications in pediatric patients with hydrocephalus. We retrospectively reviewed 246 plain radiographs, three shuntograms, 53 ultrasounds, 133 CT scans, and 24 MR images obtained before and after the ventriculo-peritoneal shunt procedure in 33 pediatric patients with hydrocephalus. Using preoperative images, the etiology of the hydrocephalus was assessed. Changes in the size and shape of the ventricles, the location and continuity of shunt apparatus, and the presence of any abnormal enhancement, hemorrhage, edema or tissue loss, or other findings of complications, were analyzed on postoperative images ; the frequency and imaging findings of shunt-related complications such as shunt malfunction, infection, homorrhage or isolated ventricle, and complications caused by overdrainage, were thus evaluated. The frequency of such complications was analyzed according to the etiology of the hydrocephalus, and in addition, medical records were reviewed and correlated with imaging findings. In 18 of the 33 patients(54%), a total of 31 complications was detected. These were present in four of five cases (80%) of hydrocephalus caused by meningitis and ventriculitis, seven of twelve (58%) intraventricular hemorrhage, two of four (50%) unknown cases, three of nine (33%) congenital malformations, one of two (50%) tumors, and one (100%) congenital infection. Shunt malfunction was most common (n=15), and was accompanied by findings of enlarged ventricles, periventricular and peritubal edema, and abnormal location of the shunt tube. Symptoms and signs of increased intracranial pressure were also noted. Subdural hemorrhage and infection were present in four cases each ; findings of infection were enhancement of the ventricular wall, meninges, and parenchyma, as well as sonographically noted intraventricular septation and increased ventricular wall echo. Isolated lateral ventricle (n=4) or 4

  3. Congenital TORCH infections of the brain--CT manifestation (with analysis of 7 cases)

    International Nuclear Information System (INIS)

    Li Xin; Li Minglin; Yang Zhiyong

    1997-01-01

    To study the neuropathologic changes and CT manifestations in congenital TORCH infection of the brain. Analysis of 7 cases of congenital TORCH infection of the neonates and infants demonstrated by serum examination was performed. There were congenital toxoplasmosis 3 cases, congenital syncytial virus infection 1 case, congenital rubella virus infection 1 case, congenital cytomegalovirus infection 2 cases, and congenital herpes simplex virus infection 1 case. Cerebral hypoplasia, ventricular dilatation or hydrocephalus, subependymal and parenchymal calcifications, microcephalic focal cortical migration anomalies, schizencephaly polymicrogyria, et al, were demonstrated by CT with congenital TORCH infection. The earlier the infection, the more severe the brain developmental anomalies. The extent and appearance of calcification in brain were related to the degree, extent and course of TORCH infection. Basal ganglia calcification of unknown cause in infant was suggestive of congenital TORCH infection. Typical CT manifestations together with clinical picture may suggest congenital TORCH infection, while serological test can be diagnostic

  4. Frontal and occipital horn ratio is associated with multifocal intraparenchymal hemorrhages in neonatal shunted hydrocephalus.

    Science.gov (United States)

    Oushy, Soliman; Parker, Jonathon J; Campbell, Kristen; Palmer, Claire; Wilkinson, Corbett; Stence, Nicholas V; Handler, Michael H; Mirsky, David M

    2017-11-01

    OBJECTIVE Placement of a cerebrospinal fluid diversion device (i.e., shunt) is a routine pediatric neurosurgical procedure, often performed in the first weeks of life for treatment of congenital hydrocephalus. In the postoperative period, shunt placement may be complicated by subdural, catheter tract, parenchymal, and intraventricular hemorrhages. The authors observed a subset of infants and neonates who developed multifocal intraparenchymal hemorrhages (MIPH) following shunt placement and sought to determine any predisposing perioperative variables. METHODS A retrospective review of the electronic medical record at a tertiary-care children's hospital was performed for the period 1998-2015. Inclusion criteria consisted of shunt placement, age hydrocephalus. Markers of severity of ventriculomegaly (FOR) and ventricular response to CSF diversion (∆FOR) were significantly associated with occurrence of MIPH. Choice of shunt and etiology of hydrocephalus were also significantly associated with MIPH. After adjusting for corrected age, etiology of hydrocephalus, and shunt setting, the authors found that ∆FOR after shunting was still associated with MIPH. A prospective study of MIPH prevention strategies and assessment of possible implications for patient outcomes is needed.

  5. Cerebrospinal fluid hypersecretion in pediatric hydrocephalus.

    Science.gov (United States)

    Karimy, Jason K; Duran, Daniel; Hu, Jamie K; Gavankar, Charuta; Gaillard, Jonathan R; Bayri, Yasar; Rice, Hunter; DiLuna, Michael L; Gerzanich, Volodymyr; Marc Simard, J; Kahle, Kristopher T

    2016-11-01

    Hydrocephalus, despite its heterogeneous causes, is ultimately a disease of disordered CSF homeostasis that results in pathological expansion of the cerebral ventricles. Our current understanding of the pathophysiology of hydrocephalus is inadequate but evolving. Over this past century, the majority of hydrocephalus cases has been explained by functional or anatomical obstructions to bulk CSF flow. More recently, hydrodynamic models of hydrocephalus have emphasized the role of abnormal intracranial pulsations in disease pathogenesis. Here, the authors review the molecular mechanisms of CSF secretion by the choroid plexus epithelium, the most efficient and actively secreting epithelium in the human body, and provide experimental and clinical evidence for the role of increased CSF production in hydrocephalus. Although the choroid plexus epithelium might have only an indirect influence on the pathogenesis of many types of pediatric hydrocephalus, the ability to modify CSF secretion with drugs newer than acetazolamide or furosemide would be an invaluable component of future therapies to alleviate permanent shunt dependence. Investigation into the human genetics of developmental hydrocephalus and choroid plexus hyperplasia, and the molecular physiology of the ion channels and transporters responsible for CSF secretion, might yield novel targets that could be exploited for pharmacotherapeutic intervention.

  6. Hydrocephalus associated with subarachnoid hemorrhage

    International Nuclear Information System (INIS)

    Nosaka, Yoshiki

    1981-01-01

    Thirteen patients exhibited a communicating hydrocephalus following subarachnoid hemorrhage secondary to ruptured intracranial aneurysms and were treated with shunt procedures. The interval between subarachnoid hemorrhage and surgery averaged 9 weeks. Seven of the patients showed improvement. The prognostic value for surgical management was evaluated on the basis of three different diagnostic examinations (computed tomography (CT), cisternography and constant infusion test). A correct diagnosis was obtained in 78 per cent in cisternography, and 63 per cent in infusion test and CT. All patients responding to surgery showed a typical pattern in cisternography, consisting of ventricular retention of radiopharmaceutical tracer for 48 h or longer in association with no radioactivity over the cerebral hemispheres. The constant infusion test correlated well with typical cisternographic patterns. CT is useful in demonstrating pathophysiological changes in hydrocephalus. Periventricular hypodensity was visible in patients with normal or slightly elevated intracranial pressure, accompanied by fairly rapid deterioration. All of them responded well to shunting. In most cases which benefited from the shunt, the postoperative CT showed not only normal-sized ventricles but also marked regression of the hypodensity over a short period. (author)

  7. Control volume based hydrocephalus research

    Science.gov (United States)

    Cohen, Benjamin; Voorhees, Abram; Wei, Timothy

    2008-11-01

    Hydrocephalus is a disease involving excess amounts of cerebral spinal fluid (CSF) in the brain. Recent research has shown correlations to pulsatility of blood flow through the brain. However, the problem to date has presented as too complex for much more than statistical analysis and understanding. This talk will highlight progress on developing a fundamental control volume approach to studying hydrocephalus. The specific goals are to select physiologically control volume(s), develop conservation equations along with the experimental capabilities to accurately quantify terms in those equations. To this end, an in vitro phantom is used as a simplified model of the human brain. The phantom's design consists of a rigid container filled with a compressible gel. The gel has a hollow spherical cavity representing a ventricle and a cylindrical passage representing the aquaducts. A computer controlled piston pump supplies pulsatile volume fluctuations into and out of the flow phantom. MRI is used to measure fluid velocity, and volume change as functions of time. Independent pressure measurements and flow rate measurements are used to calibrate the MRI data. These data are used as a framework for future work with live patients.

  8. Shortfalls in pediatric hydrocephalus clinical outcome analysis.

    Science.gov (United States)

    Walid, Mohammad Sami; Robinson, Joe Sam

    2012-06-01

    In this paper, we used search engine technology to study outcome analysis and cost awareness of child hydrocephalus in the literature. The aggregate hospital charges of hydrocephalus treatment procedures for patients years old was extracted from the Nationwide Inpatient Sample (NIS) data. Hydrocephalus literature was probed through the PubMed biomedical search engine. Aggregate hospital charges associated with ventriculo-peritoneal shunting as the principle procedure for patients years old have increased 1.7-fold over a 13-year period to 235.6 million in 2009. Hospital discharges, however, decreased from 3,390 in 1997 to 2,525 in 2009 (25.5% decrease over 13 years). The number of papers in English language indexed by PubMed in relation to child hydrocephalus in humans increased from 81 papers in 1996 to 133 in 2010 (1.6-fold increase), totaling 1,694 over 15 years. Randomized controlled trials published in relation to child hydrocephalus totaled 16 over the same period (0.94% of child hydrocephalus papers). Papers related to child hydrocephalus with "costs and cost analysis" as medical subject heading totaled 13 papers (0.77%). Over the past 15 years, disappointingly the number of printed child hydrocephalus papers appeared to have only plateaued. Strikingly, only a very small number of these papers were directed toward randomized control studies, the sine qua non of high-grade clinical evidence. Moreover, very few papers make reference to cost analysis or economics in the treatment of hydrocephalus - an issue coming increasingly before the nation at this point.

  9. Periventricular hyperintensity in children with hydrocephalus

    Energy Technology Data Exchange (ETDEWEB)

    Akbari, S.H.A.; Ragan, Dustin K. [St. Louis Children' s Hospital, Washington University School of Medicine, Department of Neurological Surgery, St. Louis, MO (United States); Limbrick, David D. [St. Louis Children' s Hospital, Washington University School of Medicine, Department of Neurological Surgery, St. Louis, MO (United States); McKinstry, Robert C.; Shimony, Joshua S. [St. Louis Children' s Hospital, Washington University School of Medicine, Mallinckrodt Institute of Radiology, St. Louis, MO (United States); Altaye, Mekibib [Cincinnati Children' s Hospital, Division of Biostatistics and Epidemiology, Cincinnati, OH (United States); Yuan, Weihong; Holland, Scott K. [Cincinnati Children' s Hospital, Department of Pediatric Radiology, Cincinnati, OH (United States); Mangano, Francesco T. [Cincinnati Children' s Hospital, Department of Pediatric Neurological Surgery, Cincinnati, OH (United States)

    2015-08-15

    Magnetic resonance images of children with hydrocephalus often include a rim of hyperintensity in the periventricular white matter (halo). The purpose of this study was to decide between the hypothesis that the halo is caused by cerebrospinal fluid (CSF) flow during the cardiac cycle, and the alternate hypothesis that the halo is caused by anatomical changes (stretching and compression of white matter). Participants were selected from a multicenter imaging study of pediatric hydrocephalus. We compared 19 children with hydrocephalus to a group of 52 controls. We quantified ventricle enlargement using the frontal-occipital horn ratio. We conducted qualitative and quantitative analysis of diffusion tensor imaging in the corpus callosum and posterior limb of the internal capsule. Parameters included the fractional anisotropy (FA), mean diffusivity, axial diffusivity and radial diffusivity. The halo was seen in 16 of the 19 children with hydrocephalus but not in the controls. The corpus callosum of the hydrocephalus group demonstrated FA values that were significantly decreased from those in the control group (P = 4 . 10{sup -6}), and highly significant increases were seen in the mean diffusivity and radial diffusivity in the hydrocephalus group. In the posterior limb of the internal capsule the FA values of the hydrocephalus group were higher than those for the control group (P = 0.002), and higher values in the hydrocephalus group were also noted in the axial diffusivity. We noted correlations between the diffusion parameters and the frontal-occipital horn ratio. Our results strongly support the hypothesis that the halo finding in hydrocephalus is caused by structural changes rather than pulsatile CSF flow. (orig.)

  10. Periventricular hyperintensity in children with hydrocephalus

    International Nuclear Information System (INIS)

    Akbari, S.H.A.; Ragan, Dustin K.; Limbrick, David D.; McKinstry, Robert C.; Shimony, Joshua S.; Altaye, Mekibib; Yuan, Weihong; Holland, Scott K.; Mangano, Francesco T.

    2015-01-01

    Magnetic resonance images of children with hydrocephalus often include a rim of hyperintensity in the periventricular white matter (halo). The purpose of this study was to decide between the hypothesis that the halo is caused by cerebrospinal fluid (CSF) flow during the cardiac cycle, and the alternate hypothesis that the halo is caused by anatomical changes (stretching and compression of white matter). Participants were selected from a multicenter imaging study of pediatric hydrocephalus. We compared 19 children with hydrocephalus to a group of 52 controls. We quantified ventricle enlargement using the frontal-occipital horn ratio. We conducted qualitative and quantitative analysis of diffusion tensor imaging in the corpus callosum and posterior limb of the internal capsule. Parameters included the fractional anisotropy (FA), mean diffusivity, axial diffusivity and radial diffusivity. The halo was seen in 16 of the 19 children with hydrocephalus but not in the controls. The corpus callosum of the hydrocephalus group demonstrated FA values that were significantly decreased from those in the control group (P = 4 . 10 -6 ), and highly significant increases were seen in the mean diffusivity and radial diffusivity in the hydrocephalus group. In the posterior limb of the internal capsule the FA values of the hydrocephalus group were higher than those for the control group (P = 0.002), and higher values in the hydrocephalus group were also noted in the axial diffusivity. We noted correlations between the diffusion parameters and the frontal-occipital horn ratio. Our results strongly support the hypothesis that the halo finding in hydrocephalus is caused by structural changes rather than pulsatile CSF flow. (orig.)

  11. Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies.

    Science.gov (United States)

    Sivadorai, P; Cherninkova, S; Bouwer, S; Kamenarova, K; Angelicheva, D; Seeman, P; Hollingsworth, K; Mihaylova, V; Oscar, A; Dimitrova, G; Kaneva, R; Tournev, I; Kalaydjieva, L

    2008-07-01

    Primary congenital glaucoma (PCG) is a genetically heterogeneous disorder of autosomal recessive inheritance, with mutations in the cytochrome P450 1B1 (CYP1B1) gene detected in an average of approximately 50% of cases worldwide. The Roma/Gypsies are considered to be a rare example of a single founder CYP1B1 mutation, E387K (identified in the Slovak Roma), accounting for 100% of disease alleles. Contrary to this concept, unusual genetic heterogeneity was revealed in this study of 21 Gypsy PCG patients from Bulgaria and 715 controls from the general Gypsy population. In our small sample of affected subjects, we identified five different CYP1B1 mutations - four known (E229K, R368H, E387K and R390C) and one novel and potentially pathogenic (F445I), which together accounted for approximately 30% of disease alleles. E387K was rare in both the patient and the control group, indicating that its high frequency in the Slovak Roma is the product of local founder effect not representative of the overall molecular pattern of PCG in the Gypsy population. Data on other Mendelian disorders and on the population genetics of the Gypsies suggest that a true founder mutation is likely to exist and has remained undetected. Our analysis of another candidate gene, MYOC, and the GLC3B and GLC3C loci did not provide support for their involvement. The molecular basis of PCG in the Gypsies is thus unresolved, and diagnostic analyses should be extended beyond the E387K mutation.

  12. Outcomes of Ahmed Valve Implant Following a Failed Initial Trabeculotomy and Trabeculectomy in Refractory Primary Congenital Glaucoma

    Science.gov (United States)

    Dave, Paaraj; Senthil, Sirisha; Choudhari, Nikhil; Sekhar, Garudadri Chandra

    2015-01-01

    Purpose: The aim was to report the outcome of Ahmed glaucoma valve (AGV) (New World Medical, Inc., Rancho Cucamonga, CA, USA) implantation as a surgical intervention following an initial failed combined trabeculotomy + trabeculectomy (trab + trab) in refractory primary congenital glaucoma (RPCG). Materials and Methods: Retrospective chart review of 11 eyes of 8 patients who underwent implantation of AGV (model FP8) for RPCG between 2009 and 2011. Prior trab + trab had failed in all the eyes. Success was defined as an intraocular pressure (IOP) >5 and ≤ 18 mmHg during examination under anesthesia with or without medications and without serious complications or additional glaucoma surgery. Results: The mean age at AGV implantation was 15.4 ± 4.9 months. The mean preoperative IOP was 28 ± 5.7 mmHg which reduced to 13.6 ± 3.4 mmHg postoperatively at the last follow-up (P < 0.0001). The number of topical antiglaucoma medications reduced from a mean of 2.6 ± 0.5 to 1.6 ± 0.9 postoperatively (P = 0.009). The definition of qualified success was met in 10 (90%) eyes. One eye developed a shallow anterior chamber with choroidal detachment at 1-week, which resolved spontaneously with medications. None of the eyes developed a hypertensive phase. One eye had a long tube resulting in tube corneal touch that required trimming of the tube. One eye developed tube retraction, which was treated with a tube extender. The mean follow-up was 17.9 ± 9.3 (6.2-35.4) months. Conclusion: Managing RPCG remains a challenge. AGV implant was successful in a significant proportion of cases. PMID:25624676

  13. Substitution of valine for glycine-558 in the congenital dysthrombin thrombin Quick II alters primary substrate specificity

    Energy Technology Data Exchange (ETDEWEB)

    Henriksen, R.A.; Mann, K.G. (Univ. of Vermont, Burlington (USA))

    1989-03-07

    Thrombin Quick II is one of two dysfunctional forms of thrombin derived from the previously described congenital dysprothrombin prothrombin Quick. Thrombin Quick II does not clot fibrinogen, hydrolyze p-nitroanilide substrates of thrombin, or bind N{sup 2}-(5-(dimethylamino)naphthalene-1-sulfonyl)arginine N,N-(3-ethyl-1,5-pentanediyl)amide, a high-affinity competitive inhibitor of thrombin. To determine the structural alteration in thrombin Quick II, the reduced, carboxymethylated protein was hydrolyzed by a lysyl endopeptidase. A peptide not present in a parallel thrombin hydrolysate was identified by reverse-phase chromatography. This Gly residue, which is highly conserved in the chymotrypsin family of serine proteases, forms part of the substrate binding pocket for bulky aromatic and basic side chains in chymotrypsin and trypsin, respectively. However, in porcine elastase 1, the corresponding residue is threonine. Consistent with the identified structural alteration, thrombin Quick II incorporates ({sup 3}H)diisopropyl fluorophosphate stoichiometrically and hydrolyzes the elastase substrate succinyl-Ala-Ala-Pro-Leu-p-nitroanilide with a relative k{sub cat}/K{sub M} of 0.14 when compared to thrombin. This results from a 3-fold increase in K{sub M} and a 2.5-fold decrease in k{sub cat} for thrombin Quick II when compared to thrombin acting on the same substrate. These results and those of other investigators studying mutant trypsins support the conclusion that the catalytic activity of serine proteases is very sensitive to structural alterations in the primary substrate binding pocket.

  14. Bilateral clinical anophthalmia associated with congenital hydrocephalus in the dog

    OpenAIRE

    Palumbo, Mariana Isa Poci [UNESP; Conti, Jorge Piovesan [UNESP; Doiche, Danuta Pulz [UNESP; Mamprim, Maria Jaqueline [UNESP; Lourenço, Maria Lucia Gomes [UNESP; Machado, Luiz Henrique de Araújo [UNESP

    2011-01-01

    A ausência completa do bulbo ocular é muito rara em cães e gatos, enquanto a hidrocefalia é comumente observada como distúrbio congênito em cães de raças miniatura ou braquicefálicas, com menos de um ano de idade. O presente trabalho relata a ocorrência de anoftalmia clínica bilateral associada à hidrocefalia congênita em um cão da raça poodle, sendo este o primeiro relato de caso da associação dessas alterações no Brasil.The complete absence of the eyeball is rare in dogs and cats, and hydro...

  15. Trends in hospitalization of preterm infants with intraventricular hemorrhage and hydrocephalus in the United States, 2000-2010.

    Science.gov (United States)

    Christian, Eisha A; Jin, Diana L; Attenello, Frank; Wen, Timothy; Cen, Steven; Mack, William J; Krieger, Mark D; McComb, J Gordon

    2016-03-01

    OBJECT Even with improved prenatal and neonatal care, intraventricular hemorrhage (IVH) occurs in approximately 25%-30% of preterm infants, with a subset of these patients developing hydrocephalus. This study was undertaken to describe current trends in hospitalization of preterm infants with posthemorrhagic hydrocephalus (PHH) using the Nationwide Inpatient Sample (NIS) and the Kids' Inpatient Database (KID). METHODS The KID and NIS were combined to generate data for the years 2000-2010. All neonatal discharges with ICD-9-CM codes for preterm birth with IVH alone or with IVH and hydrocephalus were included. RESULTS There were 147,823 preterm neonates with IVH, and 9% of this group developed hydrocephalus during the same admission. Of patients with Grade 3 and 4 IVH, 25% and 28%, respectively, developed hydrocephalus in comparison with 1% and 4% of patients with Grade 1 and 2 IVH, respectively. Thirty-eight percent of patients with PHH had permanent ventricular shunts inserted. Mortality rates were 4%, 10%, 18%, and 40%, respectively, for Grade 1, 2, 3, and 4 IVH during initial hospitalization. Length of stay has been trending upward for both groups of IVH (49 days in 2000, 56 days in 2010) and PHH (59 days in 2000, 70 days in 2010). The average hospital cost per patient (adjusted for inflation) has also increased, from $201,578 to $353,554 (for IVH) and $260,077 to $495,697 (for PHH) over 11 years. CONCLUSIONS The number of neonates admitted with IVH has increased despite a decrease in the number of preterm births. Rates of hydrocephalus and mortality correlated closely with IVH grade. The incidence of hydrocephalus in preterm infants with IVH remained stable between 8% and 10%. Over an 11-year period, there was a progressive increase in hospital cost and length of stay for preterm neonates with IVH and PHH that may be explained by a concurrent increase in the proportion of patients with congenital cardiac anomalies.

  16. High incidence of hydrocephalus following prenatal exposure to X-irradiation at early gestational stage in mice

    International Nuclear Information System (INIS)

    Aolad, H.; Inouye, Minoru; Hayasaka, Shizu; Darmanto, W.; Murata, Yoshiharu

    1998-01-01

    Hydrocephalus is one of the severe brain anomalies. Several causes of congenital hydrocephalus have been reported and, it is known that radiation is one of those. The current study was designed to obtain postnatally viable hydrocephalic offspring at a high incidence following X-radiation. This finding will be helpful to elucidate the mechanism of congenital hydrocephalus caused by X-radiation. Twenty pregnant Slc:ICR mice, 5 in each group, were exposed to X-irradiation at a dose of 1.0 Gy on gestational days 7 (G7), G8, G9 or G10. The incidence of hydrocephalus was high in the group exposed on G7. An additional 21 pregnant mice were then exposed to a dose of 1.2 Gy, 1.3 Gy, 1.4 Gy or 1.5 Gy X-radiation on G7. The highest incidence of hydrocephalic offspring was found following exposure to 1.4 Gy X-radiation. (author)

  17. Primary prevention of neural-tube defects and some other congenital abnormalities by folic acid and multivitamins: history, missed opportunity and tasks

    Science.gov (United States)

    Bártfai, Zoltán; Bánhidy, Ferenc

    2011-01-01

    The history of intervention trials of periconception folic acid with multivitamin and folic acid supplementation in women has shown a recent breakthrough in the primary prevention of structural birth defects, namely neural-tube defects and some other congenital abnormalities. Recently, some studies have demonstrated the efficacy of this new method in reducing congenital abnormalities with specific origin; for example, in the offspring of diabetic and epileptic mothers, and in pregnancy with high fever. The benefits and drawbacks of four possible uses of periconception folate/folic acid and multivitamin supplementation are discussed: we believe there has been a missed opportunity to implement this preventive approach in medical practice. The four methods are as follows: (i) dietary intake of folate and other vitamins, (ii) periconception folic acid/multivitamin supplementation, (iii) food fortification with folic acid, and (iv) the combination of oral contraceptives with 6S-5-methytetrahydrofolate (‘folate’). PMID:25083211

  18. Biodriven microsystem for treatment of hydrocephalus

    Science.gov (United States)

    Joswig, Jurgen; Oswald, Jens; Seifert, Steffen

    1995-09-01

    A microvalve system made of silicon for use in hydrocephalus therapy is presented, which will provide an excellent intracranial pressure stabilization. Design and processing are described. Testing results (in vitro) are presented.

  19. A hydroelastic model of hydrocephalus

    Science.gov (United States)

    Smillie, Alan; Sobey, Ian; Molnar, Zoltan

    2005-09-01

    We combine elements of poroelasticity and of fluid mechanics to construct a mathematical model of the human brain and ventricular system. The model is used to study hydrocephalus, a pathological condition in which the normal flow of the cerebrospinal fluid is disturbed, causing the brain to become deformed. Our model extends recent work in this area by including flow through the aqueduct, by incorporating boundary conditions that we believe accurately represent the anatomy of the brain and by including time dependence. This enables us to construct a quantitative model of the onset, development and treatment of this condition. We formulate and solve the governing equations and boundary conditions for this model and give results that are relevant to clinical observations.

  20. CT in normal pressure hydrocephalus

    International Nuclear Information System (INIS)

    Fujita, Katsuzo; Nogaki, Hidekazu; Noda, Masaya; Kusunoki, Tadaki; Tamaki, Norihiko

    1981-01-01

    CT scans were obtained on 33 patients (age 73y. to 31y.) with the diagnosis of normal pressure hydrocephalus. In each case, the diagnosis was made on the basis of the symptoms, CT and cisternographic findings. Underlying diseases of normal pressure hydrocephalus are ruptured aneurysms (21 cases), arteriovenous malformations (2 cases), head trauma (1 case), cerebrovascular accidents (1 case) and idiopathie (8 cases). Sixteen of 33 patients showed marked improvement, five, moderate or minimal improvement, and twelve, no change. The results were compared with CT findings and clinical response to shunting. CT findings were classified into five types, bases on the degree of periventricular hypodensity (P.V.H.), the extent of brain damage by underlying diseases, and the degree of cortical atrophy. In 17 cases of type (I), CT shows the presence of P.V.H. with or without minimal frontal lobe damage and no cortical atrophy. The good surgical improvements were achieved in all cases of type (I) by shunting. In 4 cases of type (II), CT shows the presence of P.V.H. and severe brain damage without cortical atrophy. The fair clinical improvements were achieved in 2 cases (50%) by shunting. In one case of type (III), CT shows the absence of P.V.H. without brain damage nor cortical atrophy. No clinical improvement was obtained by shunting in this type. In 9 cases of type (IV) with mild cortical atrophy, the fair clinical improvement was achieved in two cases (22%) and no improvement in 7 cases. In 2 cases of type (V) with moderate or marked cortical atrophy, no clinical improvement was obtained by shunting. In conclusion, it appeared from the present study that there was a good correlation between the result of shunting and the type of CT, and clinical response to shunting operation might be predicted by classification of CT findings. (author)

  1. European recommendations for primary prevention of congenital anomalies: a joined effort of EUROCAT and EUROPLAN projects to facilitate inclusion of this topic in the National Rare Disease Plans.

    Science.gov (United States)

    Taruscio, Domenica; Arriola, Larraitz; Baldi, Francesca; Barisic, Ingeborg; Bermejo-Sánchez, Eva; Bianchi, Fabrizio; Calzolari, Elisa; Carbone, Pietro; Curran, Rhonda; Garne, Ester; Gatt, Miriam; Latos-Bieleńska, Anna; Khoshnood, Babak; Irgens, Lorentz; Mantovani, Alberto; Martínez-Frías, Maria Luisa; Neville, Amanda; Rißmann, Anke; Ruggeri, Stefania; Wellesley, Diana; Dolk, Helen

    2014-01-01

    Congenital anomalies (CA) are the paradigm example of rare diseases liable to primary prevention actions due to the multifactorial etiology of many of them, involving a number of environmental factors together with genetic predispositions. Yet despite the preventive potential, lack of attention to an integrated preventive strategy has led to the prevalence of CA remaining relatively stable in recent decades. The 2 European projects, EUROCAT and EUROPLAN, have joined efforts to provide the first science-based and comprehensive set of recommendations for the primary prevention of CA in the European Union. The resulting EUROCAT-EUROPLAN 'Recommendations on Policies to Be Considered for the Primary Prevention of Congenital Anomalies in National Plans and Strategies on Rare Diseases' were issued in 2012 and endorsed by EUCERD (European Union Committee of Experts on Rare Diseases) in 2013. The recommendations exploit interdisciplinary expertise encompassing drugs, diet, lifestyles, maternal health status, and the environment. The recommendations include evidence-based actions aimed at reducing risk factors and at increasing protective factors and behaviors at both individual and population level. Moreover, consideration is given to topics specifically related to CA (e.g. folate status, teratogens) as well as of broad public health impact (e.g. obesity, smoking) which call for specific attention to their relevance in the pre- and periconceptional period. The recommendations, reported entirely in this paper, are a comprehensive tool to implement primary prevention into national policies on rare diseases in Europe. © 2014 S. Karger AG, Basel.

  2. Infantile hydrocephalus: a review of epidemiology, classification and causes

    Science.gov (United States)

    Tully, Hannah M; Dobyns, William B

    2015-01-01

    Hydrocephalus is a common but complex condition caused by physical or functional obstruction of CSF flow that leads to progressive ventricular dilatation. Though hydrocephalus was recently estimated to affect 1.1 in 1,000 infants, there have been few systematic assessments of the causes of hydrocephalus in this age group, which makes it a challenging condition to approach as a scientist or as a clinician. Here, we review contemporary literature on the epidemiology, classification and pathogenesis of infantile hydrocephalus. We describe the major environmental and genetic causes of hydrocephalus, with the goal of providing a framework to assess infants with hydrocephalus and guide future research. PMID:24932902

  3. Hydrocephalus

    Science.gov (United States)

    ... previously acquired skills, such as walking or talking Young and middle-aged adults Common signs and symptoms ... Clinic does not endorse any of the third party products and services advertised. Advertising and sponsorship policy ...

  4. Intracerebral hemorrhage with intraventricular extension and no hydrocephalus may not increase mortality or severe disability.

    Science.gov (United States)

    Mahta, Ali; Katz, Paul M; Kamel, Hooman; Azizi, S Ausim

    2016-08-01

    This paper aimed to test the hypothesis that intraventricular extension of spontaneous intracerebral hemorrhage (ICH) in the absence of hydrocephalus is not associated with increased mortality or severe disability. We performed a retrospective consecutive cohort study of patients with primary spontaneous ICH who were admitted to a single institution. Multivariate logistic regression analysis was used to assess the association of each variable with functional outcome as measured by the modified Rankin Scale (mRS). A total of 164 patients met our inclusion criteria and were included in the study. Only hydrocephalus (p=0.002) and hematoma volume (p=0.006) were significantly associated with mortality or poor functional outcome (mRS of 3 to 6). In contrast, the presence of intraventricular hematoma was not independently associated with poor functional outcome. The presence of intraventricular extension of ICH in the absence of hydrocephalus may not increase mortality or disability. Copyright © 2016 Elsevier Ltd. All rights reserved.

  5. Prenatal Diagnosis of Persistent Hyperplastic Primary Vitreous: Report of 2 Cases and Review of the Literature.

    Science.gov (United States)

    Esmer, Aytul Corbacioglu; Sivrikoz, Tugba Sarac; Gulec, Elif Yilmaz; Sezer, Salim; Kalelioglu, Ibrahim; Has, Recep; Yuksel, Atil

    2016-10-01

    Persistent hyperplastic primary vitreous is a spectrum of congenital ocular abnormalities characterized by leukocoria, microphthalmia, cataracts, extensive intravitreal hemorrhage, persistence of the hyaloid artery, glaucoma, and retinal detachment. It might be isolated or associated with congenital syndromes such as trisomy 13, Walker-Warburg syndrome, and Norrie disease. We present 2 cases of persistent hyperplastic primary vitreous diagnosed by prenatal sonography in the early third trimester. Bilateral hyperechoic lenses and retinal nonattachment were detected in the sonographic examination of the first case, whereas irregular echogenic bands between the lenses and posterior walls of the eyes were prominent in the second case. In both of the cases, ocular findings were accompanied by intracranial findings, including severe hydrocephalus, an abnormal gyral pattern, and cerebellar hypoplasia, suggesting the diagnosis of Walker-Warburg syndrome. We also present a review of the literature regarding the prenatal diagnosis of this malformation.

  6. Childhood hydrocephalus – is radiological morphology associated with etiology

    DEFF Research Database (Denmark)

    Foss-Skiftesvik, Jon; Andresen, Morten; Juhler, Marianne

    2013-01-01

    Clinicians use a non-standardized, intuitive approach when correlating radiological morphology and etiology of hydrocephalus.......Clinicians use a non-standardized, intuitive approach when correlating radiological morphology and etiology of hydrocephalus....

  7. Congenital chylous ascites

    International Nuclear Information System (INIS)

    Romanska-Kita, J.; Borszewska-Kornacka, M. K.; Rudzinska, I.; Wawrzoniak, T.; Dobrzanska, A.; Czech-Kowalska, J.

    2011-01-01

    Congenital chylous ascites is a rare entity, conditioned by numerous factors and with changing dynamics of the disease. Because of the lack of therapeutic and diagnostic standards, this disease constitutes to be a medical challenge. This article presents current knowledge on pathogenesis, diagnostics and management of this disease, as well as a case of a newborn with primary congenital chylous ascites in the abdominal cavity. (authors)

  8. Congenital Hypothyroidism

    Science.gov (United States)

    ... Disease Featured Resource Find an Endocrinologist Search Congenital Hypothyroidism March 2012 Download PDFs English Espanol Editors Rosalind S. ... Resources MedlinePlus (NIH) Mayo Clinic What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

  9. Cerebral hemodynamics and functional prognosis in hydrocephalus

    Energy Technology Data Exchange (ETDEWEB)

    Hirai, Osamu; Nishikawa, Michio; Watanabe, Shu; Yamakawa, Hiroyasu; Kinoshita, Yoshimasa; Uno, Akira; Handa, Hajime (Hamamatsu Rosai Hospital, Shizuoka (Japan))

    1989-11-01

    The functional outcome of cerebral hemodynamics in the chronic stage of juvenile hydrocephalus was determined using single photon emission computed tomography (SPECT). Five patients including three with aqueductal stenosis, one with post-meningitic hydrocephalus, and one case with hydrocephalus having developed after repair of a huge occipital encephalocele. Early images of cerebral blood flow (CBF) were obtained 25 minutes after intravenous injection of 123-I-iodoamphetamine (IMP), and late images were scanned 3 hours later. Cerebral blood volume (CBV) was also measured using {sup 99m}Tc in three patients. Twenty cases with adult communicating hydrocephalus were also investigated from the point of view of shunt effectiveness. Although there was no remarkable change in the cerebrovascular bed in the juvenile cases, CBF of the remnant brain parenchyma was good irrespective of the degree of ventricular dilatation. There was a periventricular-related IMP uptake in each case; however, it somehow matched the ventricular span. Functional outcome one to 23 years after the initial shunt operation was good in every case, despite multiple shunt revisions. Redistribution on late images had no bearing on clinical states. In adult cases, 8 patients with effective shunting demonstrated a relatively localized periventricular low perfusion, with preoperative increased cerebrospinal fluid (CSF) pressure. On the contrary, 12 patients with no improvement with or without ventricular-reduced IMP uptake, despite low CSF pressure. The present study indicates that periventricular hemodynamics may play an important role in cerebral function compromised by hydrocephalus. (J.P.N.).

  10. Brain scintigraphy in patients with hydrocephalus

    International Nuclear Information System (INIS)

    Kadowaki, Hirotaka; Imanaga, Hirohisa; Kitamura, Koichi

    1975-01-01

    Brain scintigraphy is a simple, innocuous and valuable diagnostic method. Particulary in children, in order to minimize damage by examination, brain scintigraphy should be the first examination for patients, before other diagnostic methods such as cerebral angiography and pneumoencephalography. In the 3 years between Jan. 1970 and Dec. 1972, 235 children under the age of 15 years had brain scintigraphy with sup(99m)Tc pertechnetate at the Tokyo Women's Medical College Hospital. The authors especially attended to the findings of scintigrams in children with hydrocephalus. 29 children with non-neoplastic hydrocephalus were scanned with sup(99m)Tc pertechnetate: noncommunicating hydrocephalus; 9; hydroencephalodysplasia; 4; Chiari Arnold malformation; 1; cranium bifidum; 2; communicating hydrocephalis; 13. In noncommunicating hydrocephalus, the midline structure on the scintigram appeared thicker than the normal, because activity in the superior sagittal sinus was relatively high compared to the reduction of activity in the enlarged ventricles. In cases of very severe hydrocephalus, the basal ganglia was shown as a clear hot spot on the scintigram, because R. I. activity in the basal ganglia was relatively high compared to the reduction of R. I. activity in the enlarged ventricles. In cases of hydroencephalodysplasia, the midline structure on the scintigram shifted to the side opposite the dysplasia, as the result of pressure from a large CSF collection. In cases of cranium bifidum, the scintigram showed an elevation of the transverse sinus and the confluent sinus. (auth.)

  11. Cerebral hemodynamics and functional prognosis in hydrocephalus

    International Nuclear Information System (INIS)

    Hirai, Osamu; Nishikawa, Michio; Watanabe, Shu; Yamakawa, Hiroyasu; Kinoshita, Yoshimasa; Uno, Akira; Handa, Hajime

    1989-01-01

    The functional outcome of cerebral hemodynamics in the chronic stage of juvenile hydrocephalus was determined using single photon emission computed tomography (SPECT). Five patients including three with aqueductal stenosis, one with post-meningitic hydrocephalus, and one case with hydrocephalus having developed after repair of a huge occipital encephalocele. Early images of cerebral blood flow (CBF) were obtained 25 minutes after intravenous injection of 123-I-iodoamphetamine (IMP), and late images were scanned 3 hours later. Cerebral blood volume (CBV) was also measured using 99m Tc in three patients. Twenty cases with adult communicating hydrocephalus were also investigated from the point of view of shunt effectiveness. Although there was no remarkable change in the cerebrovascular bed in the juvenile cases, CBF of the remnant brain parenchyma was good irrespective of the degree of ventricular dilatation. There was a periventricular-related IMP uptake in each case; however, it somehow matched the ventricular span. Functional outcome one to 23 years after the initial shunt operation was good in every case, despite multiple shunt revisions. Redistribution on late images had no bearing on clinical states. In adult cases, 8 patients with effective shunting demonstrated a relatively localized periventricular low perfusion, with preoperative increased cerebrospinal fluid (CSF) pressure. On the contrary, 12 patients with no improvement with or without ventricular-reduced IMP uptake, despite low CSF pressure. The present study indicates that periventricular hemodynamics may play an important role in cerebral function compromised by hydrocephalus. (J.P.N.)

  12. Ventricular differences between hydrostatic hydrocephalus and hydrocephalus Ex Vacuo by computed tomography

    Energy Technology Data Exchange (ETDEWEB)

    LeMay, M; Hochberg, F H [Massachusetts General Hospital, Boston (USA). Radiology Dept.; Massachusetts General Hospital, Boston (USA). Dept. of Neurology; Harvard Medical School, Boston, MA (USA))

    1979-01-01

    Transaxial CT scans of 100 patients with hydrostatic hydrocephalus and 50 patients with hydrocephalus ex vacuo have been reviewed with respect to measurements of: frontal horn ratio, width of the temporal horns, width of the third ventricle, width of cerebral fissures and sulci. The diagnosis of hydrostatic hydrocephalus is probable when (a) both temporal tips are visualized and measure 3 mm or greater in width and the sylvian and interhemispheric fissures and cerebral sulci are not visible, or (b) there is visualization of temporal horn tips measuring 2 mm or greater in width and the lateral ventricles are symmetrically enlarged with the frontal horn ratio 0.50 or more.

  13. Simulation of hydrocephalus condition in infant head

    Science.gov (United States)

    Wijayanti, Erna; Arif, Idam

    2014-03-01

    Hydrocephalus is a condition of an excessive of cerebrospinal fluid in brain. In this paper, we try to simulate the behavior of hydrocephalus conditions in infant head by using a hydro-elastic model which is combined with orthotropic elastic skull and with the addition of suture that divide the skull into two lobes. The model then gives predictions for the case of stenosis aqueduct by varying the cerebral aqueduct diameter, time constant and brain elastic modulus. The hydrocephalus condition which is shown by the significant value of ventricle displacement, as the result shows, is occurred when the aqueduct is as resistant as brain parenchyma for the flow of cerebrospinal fluid. The decrement of brain elastic modulus causes brain parenchyma displacement value approach ventricle displacement value. The smaller of time constant value causes the smaller value of ventricle displacement.

  14. Ruptured Massa Intermedia Secondary to Hydrocephalus.

    Science.gov (United States)

    El Damaty, Ahmed; Langner, Soenke; Schroeder, Henry W S

    2017-01-01

    We report a case of ruptured massa intermedia (MI) as a sequela of hydrocephalus. A single case report is presented describing the sequelae of tumor bed hematoma after a posterior fossa hemangioblastoma resection in which the patient bled 3 days after surgery, resulting in secondary hydrocephalus and subsequently dilatation of the third ventricle, which resulted in rupture of the MI. The patient was managed on emergency basis with an external ventricular drain then endoscopically with a third ventriculostomy and clot extraction. Absent MI is not uncommon in hydrocephalic patients, and it is assumed to be the result of rupture from acute dilatation of the third ventricle. Our case report proves this assumption and documents the presence and absence of the MI before and after developing hydrocephalus. Copyright © 2016 Elsevier Inc. All rights reserved.

  15. Communicating hydrocephalus. Cisternographic and neuropathologic studies

    International Nuclear Information System (INIS)

    Price, D.L.; James, E.; Sperber, E.; Strecker, E.P.

    1976-01-01

    Chronic communicating hydrocephalus was produced in adult dogs by injection of silastic into the subarachnoid space. Electron microscopy was used to verify the sequence of pathologic changes in the ventricular wall. The pathologic findings were correlated with cisternographic images and measurements of cerebrospinal fluid (CSF) pressure. Early in hydrocephalus, the CSF pressure was increased and cisternograms showed ventricular entry and clearing; the ependyma was stretched and fluid accumulated in subependymal regions. In animals with chronic hydrocephalus, the CSF pressure was normal and cisternograms disclosed radioactivity persisting in the ventricles. At this time the ependyma was severely damaged, the subependymal white matter showed enlargement of the extracellular space, and degenerative changes were present in axons and myelin sheaths

  16. A mutation in Ccdc39 causes neonatal hydrocephalus with abnormal motile cilia development in mice.

    Science.gov (United States)

    Abdelhamed, Zakia; Vuong, Shawn M; Hill, Lauren; Shula, Crystal; Timms, Andrew; Beier, David; Campbell, Kenneth; Mangano, Francesco T; Stottmann, Rolf W; Goto, June

    2018-01-09

    Pediatric hydrocephalus is characterized by an abnormal accumulation of cerebrospinal fluid (CSF) and is one of the most common congenital brain abnormalities. However, little is known about the molecular and cellular mechanisms regulating CSF flow in the developing brain. Through whole-genome sequencing analysis, we report that a homozygous splice site mutation in coiled-coil domain containing 39 ( Ccdc39 ) is responsible for early postnatal hydrocephalus in the progressive hydrocephal us ( prh ) mouse mutant. Ccdc39 is selectively expressed in embryonic choroid plexus and ependymal cells on the medial wall of the forebrain ventricle, and the protein is localized to the axoneme of motile cilia. The Ccdc39 prh/prh ependymal cells develop shorter cilia with disorganized microtubules lacking the axonemal inner arm dynein. Using high-speed video microscopy, we show that an orchestrated ependymal ciliary beating pattern controls unidirectional CSF flow on the ventricular surface, which generates bulk CSF flow in the developing brain. Collectively, our data provide the first evidence for involvement of Ccdc39 in hydrocephalus and suggest that the proper development of medial wall ependymal cilia is crucial for normal mouse brain development. © 2018. Published by The Company of Biologists Ltd.

  17. Magnetic resonance (MR) imaging in hydrocephalus

    International Nuclear Information System (INIS)

    Tamaki, Norihiko; Nagashima, Tatsuya; Shirakuni, Takayuki; Masumura, Michio; Matsumoto, Satoshi

    1985-01-01

    The correlation between the findings on MR images and CT findings, clinical symptoms, and the results of various specific investigations was determined. MR imaging was more sensitive in demonstrating the pathology of the periventricular tissue in hydrocephalus than was CT scanning, although the overall correlation between MR and CT findings was good. The authors classified the periventricular high-signal intensities (PVHI) of MR images into 4 types according to the extension and grade of the PVHI. Type 0 has no PVHI. Type I has a band of the PVHI around the wall of the lateral ventricles, including the corpus callosum and the septum pellucidum. In Type III, PVHI extended half of the width of the periventricular white matter, while in Type IV PVHI occupied the entire white matter. CT scans showed periventricular lucency (PVL) only in the periventricular white matter, especially surrounding the anterior horn, but the PVHI was visible not only in wider areas of the entire periventricular white matter, but also in the corpus callosum and the septum pellucidum. The PVHI seen in case of hydrocephalus due to posterior fossa tumors was characterized by PVHI of Type I; the PVHI disappeared after CSF shunting in all cases. There was no PVHI in the cases of marked hydrocephalus due to aqueductal stenosis, which appeared to be compensated for a long period. In the cases of normal-pressure hydrocephalus, there were various types of PVHI. There was no correlation between the types of PVHI and the grade of ventriculomegaly. There was, however, a close correlation between the types of PVHI on MR images and the clinical symptoms, and the cerebral blood flow in cases of normal-pressure hydrocephalus. In some patients with normal-pressure hydrocephalus, the PVHI improved and the cerebral blood flow increased after cerebrospinal fluid shunting. (J.P.N.)

  18. Auditory agnosia due to long-term severe hydrocephalus caused by spina bifida - specific auditory pathway versus nonspecific auditory pathway.

    Science.gov (United States)

    Zhang, Qing; Kaga, Kimitaka; Hayashi, Akimasa

    2011-07-01

    A 27-year-old female showed auditory agnosia after long-term severe hydrocephalus due to congenital spina bifida. After years of hydrocephalus, she gradually suffered from hearing loss in her right ear at 19 years of age, followed by her left ear. During the time when she retained some ability to hear, she experienced severe difficulty in distinguishing verbal, environmental, and musical instrumental sounds. However, her auditory brainstem response and distortion product otoacoustic emissions were largely intact in the left ear. Her bilateral auditory cortices were preserved, as shown by neuroimaging, whereas her auditory radiations were severely damaged owing to progressive hydrocephalus. Although she had a complete bilateral hearing loss, she felt great pleasure when exposed to music. After years of self-training to read lips, she regained fluent ability to communicate. Clinical manifestations of this patient indicate that auditory agnosia can occur after long-term hydrocephalus due to spina bifida; the secondary auditory pathway may play a role in both auditory perception and hearing rehabilitation.

  19. Encephalocele development from a congenital meningocele: case report.

    Science.gov (United States)

    Gandhoke, Gurpreet S; Goldschmidt, Ezequiel; Kellogg, Robert; Greene, Stephanie

    2017-11-01

    A fetal MRI study obtained at 21 weeks' gestation revealed a suboccipital meningocele without hydrocephalus. One day after term birth, MRI demonstrated an acquired cerebellar encephalocele, and MRI obtained 5 months later showed progressive enlargement of the encephalocele, still without obvious hydrocephalus. The patient underwent an operation in which an external ventricular drain was placed, the grossly normal cerebellum was reduced into the posterior fossa without resection, and the dural defect was closed. The drain was weaned out over 5 days, and no ventriculoperitoneal shunt was placed. Postoperative MR images revealed normal cerebellum and no hydrocephalus. The patient is developmentally normal. Meningocele and encephalocele are embryologically distinct. An acquired encephalocele could develop from hydrocephalus (which was not present in this case), or secondary to the lower resistance to expansion into the dural defect of the meningocele relative to the resistance to expansion of the fetal skull. The cerebellar tissue was normal in this case, and was thus preserved. The developmental prognosis is excellent. To the authors' knowledge, this is the first reported case of this occurrence. It is important to differentiate between congenital and acquired encephalocele etiologies, because resection of the cerebellar tissue in an acquired encephalocele (as is routinely done in cases of congenital encephalocele) would be expected to result in neurological deficits.

  20. A systematic review of the risks factors associated with the onset and natural progression of hydrocephalus.

    Science.gov (United States)

    Walsh, Stephanie; Donnan, Jennifer; Morrissey, Andrea; Sikora, Lindsey; Bowen, Sonya; Collins, Kayla; MacDonald, Don

    2017-07-01

    The purpose of this study was to systematically assess and synthesize the world literature on risk factors for the onset and natural progression of hydrocephalus, thereby providing a basis for policy makers to identify appropriate risk management measures to mitigate the burden of disease in Canada. Evidence for risk factors was limited for both onset and progression. Two meta-analyses that examined a risk factor for onset met the inclusion criteria. One found a significant protective effect of prenatal vitamins among case control studies, but not cohort/randomized controlled trials (RCTs). The second found maternal obesity to be a significant risk factor for congenital hydrocephalus. Significant risk factors among 25 observational studies included: biological (multiple births, maternal parity, common cold with fever, maternal thyroid disease, family history, preterm birth, hypertension, ischemic heart disease, ischemic ECG changes, higher cerebrospinal fluid protein concentration following vestibular schwannoma); lifestyle (maternal obesity, high-density lipoprotein (HDL) cholesterol, maternal diabetes, maternal age), healthcare-related (caesarean section, interhospital transfer, drainage duration following subarachnoid hemorrhage, proximity to midline for craniectomy following traumatic brain injury); pharmaceutical (prenatal exposure to: tribenoside, metronidazole, anesthesia, opioids); and environmental (altitude, paternal occupation). Three studies reported on genetic risk factors: no significant associations were found. There are major gaps in the literature with respect to risk factors for the natural progression of hydrocephalus. Only two observational studies were included and three factors reported. Many risk factors for the onset of hydrocephalus have been studied; for most, evidence remains limited or inconclusive. More work is needed to confirm any causal associations and better inform policy. Copyright © 2016. Published by Elsevier B.V.

  1. Uptake of [14C]deoxyglucose into brain of young rats with inherited hydrocephalus

    International Nuclear Information System (INIS)

    Richards, H.K.; Bucknall, R.M.; Jones, H.C.; Pickard, J.D.

    1989-01-01

    The effect of hydrocephalus on cerebral glucose utilization as reflected by deoxyglucose uptake has been examined in rats with inherited hydrocephalus at 10, 20, and 28 days after birth using a semiquantitative method. Injection of [14C]deoxyglucose intraperitoneally was followed by freezing the brain, sectioning, and quantitative autoradiography of 10 brain regions. Brain [14C] concentration, cortical thickness, and plasma glucose concentrations were measured. Maximal thinning of the cerebral cortex had already occurred by 10 days after birth, although obvious symptoms such as gait disturbance developed after 20 days. In control rats, the cerebral isotope concentration was lower and more homogeneous at 10 days than at 20 or 28 days, which may be a reflection of the use of metabolic substrates other than glucose in younger animals. In order to make comparisons between control and hydrocephalic groups, tissue isotope concentrations were normalized to cerebellar cortex which was not affected by the hydrocephalus at any age. In hydrocephalic rats at 10 and 20 days, the concentration of [14C] was lower in all areas except the inferior colliculi and pons but the reduction was only significant in the sensory-motor cortex at 10 days and in the caudate nuclei at 20 days. By 28 days after birth, all areas except the cerebellum (six cortical regions, inferior colliculi, pons, and caudate) had significantly lower isotope concentrations in the hydrocephalic group. It is concluded that cerebral glucose metabolism is significantly reduced by 28 days after birth in H-Tx rats with congenital hydrocephalus and that less marked reductions occur prior to 28 days

  2. Huge hydrocephalus: definition, management, and complications.

    Science.gov (United States)

    Faghih Jouibari, Morteza; Baradaran, Nazanin; Shams Amiri, Rouzbeh; Nejat, Farideh; El Khashab, Mostafa

    2011-01-01

    Lack of comprehensive knowledge and numerous socioeconomic problems may make the parents leave hydrocephalic children untreated, leading to progressive hydrocephalus and eventual unordinary big head. Management of huge hydrocephalus (HH) differs from common hydrocephalus. We present our experience in the management of these children. HH is defined as head circumference larger than the height of the infant. Nine infants with HH have been shunted in Children's Hospital Medical Center and followed up for 0.5 to 7 years. The most common cause of hydrocephalus was aqueductal stenosis. The mean age of patients during shunting was 3 months. The head circumference ranged from 56 to 94 cm with the average of 67 cm. Cognitive statuses were appropriate based on their age in five patients. Motor development was normal only in one patient. Complications were found in most cases which included subdural effusion (six patients), shunt infection (four patients), skin injury (three patients), proximal catheter coming out of ventricle to the subdural space (two patients), and shunt exposure (one patient). Three patients died due to shunt infection and sepsis. Numerous complications may occur in patients with HH after shunt operation such as subdural effusion, ventricular collapse, electrolyte disturbance, skull deformity, scalp injury, and shunt infection. Mental and motor disabilities are very common in patients with HH. Many of these complications can be related to overdrainage; therefore, drainage control using programmable shunts is advisable.

  3. Neuropathology and Structural Changes in Hydrocephalus

    Science.gov (United States)

    Del Bigio, Marc R.

    2010-01-01

    In the context of spina bifida, hydrocephalus is usually caused by crowding of the posterior fossa with obstruction to cerebrospinal fluid flow from the forth ventricle, and less often by malformation of the cerebral aqueduct. Enlargement of the cerebral ventricles causes gradual destruction of periventricular white matter axons. Motor, sensory,…

  4. CT and MR imaging features of hydrocephalus

    International Nuclear Information System (INIS)

    Shier, C.K.; George, A.E.; de Leon, M.J.; Stylopoulos, L.A.; Pinto, R.S.

    1989-01-01

    Sylvian fissure and sulcal enlargement is generally perceived as indicative of cortical atrophy and has been used by surgeons in cases of suspected hydrocephalus as a criterion for exclusion from ventricular shunting procedure. The authors have observed sylvian fissure collapse following ventricular shunting in several patients with communicating hydrocephalus (CH). The purpose of this study was to determine the incidence of this finding in patients with CH. The pre- and postshunt CT and MR images of 30 patients with communicating hydrocephalus were reviewed. As anticipated, after shunting a diminution in caliber of the lateral ventricle bodies, temporal horns, and third ventricle occurred in a majority of cases. However, sulcal width paradoxically decreased in 13% of cases after shunt, and sylvian fissure size decreased in seven patients after shunt (23%). In summary, large sylvian fissures and focally dilated sulci do not rule out the presence of hydrocephalus and may in fact act as cerebrospinal fluid reservoirs in cases of obstruction higher along the cerebral convexities

  5. Primary Prevention of Congenital Anomalies: Special Focus on Environmental Chemicals and other Toxicants, Maternal Health and Health Services and Infectious Diseases.

    Science.gov (United States)

    Taruscio, Domenica; Baldi, Francesca; Carbone, Pietro; Neville, Amanda J; Rezza, Giovanni; Rizzo, Caterina; Mantovani, Alberto

    2017-01-01

    Congenital anomalies (CA) represent an important fraction of rare diseases, due to the critical role of non-genetic factors in their pathogenesis. CA are the main group of rare diseases in which primary prevention measures will have a beneficial impact. Indeed, since 2013 the European Union has endorsed a body of evidence-based recommendations for CA primary prevention; the recommendations aim at facilitating the inclusion of primary prevention actions the National Rare Disease Plans of EU Member States and encompass different public health fields, from environment through to maternal diseases and lifestyles.The chapter overviews and discusses the assessment of main risk factors for CA, such as environmental toxicants, maternal health and lifestyles and infections, with a special attention to issues that are emerging or need more knowledge.Overall, the availability of CA registries is important for estimating the health burden of CA, identifying possible hotspots, assessing the impact of interventions and addressing further, fit-to-purpose research.The integration of relevant public health actions that are already in place (e.g., control of noxious chemicals, vaccination programmes, public health services addressing chronic maternal conditions) can increase the affordability and sustainability of CA primary prevention. In developing countries with less primary prevention in place and limited overall resources, a first recognition phase may be pivotal in order to identify priority targets. In the meanwhile, policy makers should be made aware that primary prevention of RD supports publicly endorsed societal values like the knowledge-based promotion of health, empowerment, equity and social inclusiveness.

  6. Genetic and epigenetic factors at COL2A1 and ABCA4 influence clinical outcome in congenital toxoplasmosis.

    Directory of Open Access Journals (Sweden)

    Sarra E Jamieson

    2008-06-01

    Full Text Available Primary Toxoplasma gondii infection during pregnancy can be transmitted to the fetus. At birth, infected infants may have intracranial calcification, hydrocephalus, and retinochoroiditis, and new ocular lesions can occur at any age after birth. Not all children who acquire infection in utero develop these clinical signs of disease. Whilst severity of disease is influenced by trimester in which infection is acquired by the mother, other factors including genetic predisposition may contribute.In 457 mother-child pairs from Europe, and 149 child/parent trios from North America, we show that ocular and brain disease in congenital toxoplasmosis associate with polymorphisms in ABCA4 encoding ATP-binding cassette transporter, subfamily A, member 4. Polymorphisms at COL2A1 encoding type II collagen associate only with ocular disease. Both loci showed unusual inheritance patterns for the disease allele when comparing outcomes in heterozygous affected children with outcomes in affected children of heterozygous mothers. Modeling suggested either an effect of mother's genotype, or parent-of-origin effects. Experimental studies showed that both ABCA4 and COL2A1 show isoform-specific epigenetic modifications consistent with imprinting.These associations between clinical outcomes of congenital toxoplasmosis and polymorphisms at ABCA4 and COL2A1 provide novel insight into the molecular pathways that can be affected by congenital infection with this parasite.

  7. Genetic and Epigenetic Factors at COL2A1 and ABCA4 Influence Clinical Outcome in Congenital Toxoplasmosis

    Science.gov (United States)

    Jamieson, Sarra E.; de Roubaix, Lee-Anne; Cortina-Borja, Mario; Tan, Hooi Kuan; Mui, Ernest J.; Cordell, Heather J.; Kirisits, Michael J.; Miller, E. Nancy; Peacock, Christopher S.; Hargrave, Aubrey C.; Coyne, Jessica J.; Boyer, Kenneth; Bessieres, Marie-Hélène; Buffolano, Wilma; Ferret, Nicole; Franck, Jacqueline; Kieffer, François; Meier, Paul; Nowakowska, Dorota E.; Paul, Malgorzata; Peyron, François; Stray-Pedersen, Babill; Prusa, Andrea-Romana; Thulliez, Philippe; Wallon, Martine; Petersen, Eskild; McLeod, Rima; Gilbert, Ruth E.; Blackwell, Jenefer M.

    2008-01-01

    Background Primary Toxoplasma gondii infection during pregnancy can be transmitted to the fetus. At birth, infected infants may have intracranial calcification, hydrocephalus, and retinochoroiditis, and new ocular lesions can occur at any age after birth. Not all children who acquire infection in utero develop these clinical signs of disease. Whilst severity of disease is influenced by trimester in which infection is acquired by the mother, other factors including genetic predisposition may contribute. Methods and Findings In 457 mother-child pairs from Europe, and 149 child/parent trios from North America, we show that ocular and brain disease in congenital toxoplasmosis associate with polymorphisms in ABCA4 encoding ATP-binding cassette transporter, subfamily A, member 4. Polymorphisms at COL2A1 encoding type II collagen associate only with ocular disease. Both loci showed unusual inheritance patterns for the disease allele when comparing outcomes in heterozygous affected children with outcomes in affected children of heterozygous mothers. Modeling suggested either an effect of mother's genotype, or parent-of-origin effects. Experimental studies showed that both ABCA4 and COL2A1 show isoform-specific epigenetic modifications consistent with imprinting. Conclusions These associations between clinical outcomes of congenital toxoplasmosis and polymorphisms at ABCA4 and COL2A1 provide novel insight into the molecular pathways that can be affected by congenital infection with this parasite. PMID:18523590

  8. Congenital tuberculosis

    African Journals Online (AJOL)

    Prof Ezechukwu

    2012-06-20

    Jun 20, 2012 ... Key words: Congenital tuberculo- sis, case report, miliary tuberculosis. Introduction. Congenital tuberculosis defines tuberculosis in infants of .... tary TB and otitis media, resulting in seizures, deafness, and death. It is therefore not surprising that the index case who presented at twelve weeks of age, had ...

  9. Congenital Abnormalities

    Science.gov (United States)

    ... tube defects. However, there is also a genetic influence to this type of congenital anomaly. Unknown Causes The vast majority of congenital abnormalities have no known cause. This is particularly troubling for parents who plan to have more children, because there is no way to predict if ...

  10. 236 children with developmental hydrocephalus: causes and clinical consequences

    Science.gov (United States)

    Tully, Hannah M; Ishak, Gisele E; Rue, Tessa C; Dempsey, Jennifer C; Browd, Samuel R; Millen, Kathleen J; Doherty, Dan; Dobyns, William B

    2016-01-01

    Few systematic assessments of developmental forms of hydrocephalus exist. We reviewed MRIs and clinical records of patients with infancy-onset hydrocephalus. Among 411 infants, 236 had hydrocephalus with no recognizable extrinsic cause. These children were assigned to one of five subtypes and compared on the basis of clinical characteristics, developmental and surgical outcomes. At an average age of 5.3 years, 72% of children were walking independently and 87% could eat by mouth. 18% had epilepsy. Distinct patterns of associated malformations and syndromes were observed within each subtype. On average, children with aqueductal obstruction, cysts and encephaloceles had worse clinical outcomes than those with other forms of developmental hydrocephalus. 53% of surgically-treated patients experienced at least one shunt failure, but hydrocephalus associated with posterior fossa crowding required fewer shunt revisions. We conclude that each subtype of developmental hydrocephalus is associated with distinct clinical characteristics, syndromology, and outcomes, suggesting differences in underlying mechanisms. PMID:26184484

  11. Glymphatic MRI in idiopathic normal pressure hydrocephalus.

    Science.gov (United States)

    Ringstad, Geir; Vatnehol, Svein Are Sirirud; Eide, Per Kristian

    2017-10-01

    The glymphatic system has in previous studies been shown as fundamental to clearance of waste metabolites from the brain interstitial space, and is proposed to be instrumental in normal ageing and brain pathology such as Alzheimer's disease and brain trauma. Assessment of glymphatic function using magnetic resonance imaging with intrathecal contrast agent as a cerebrospinal fluid tracer has so far been limited to rodents. We aimed to image cerebrospinal fluid flow characteristics and glymphatic function in humans, and applied the methodology in a prospective study of 15 idiopathic normal pressure hydrocephalus patients (mean age 71.3 ± 8.1 years, three female and 12 male) and eight reference subjects (mean age 41.1 + 13.0 years, six female and two male) with suspected cerebrospinal fluid leakage (seven) and intracranial cyst (one). The imaging protocol included T1-weighted magnetic resonance imaging with equal sequence parameters before and at multiple time points through 24 h after intrathecal injection of the contrast agent gadobutrol at the lumbar level. All study subjects were kept in the supine position between examinations during the first day. Gadobutrol enhancement was measured at all imaging time points from regions of interest placed at predefined locations in brain parenchyma, the subarachnoid and intraventricular space, and inside the sagittal sinus. Parameters demonstrating gadobutrol enhancement and clearance in different locations were compared between idiopathic normal pressure hydrocephalus and reference subjects. A characteristic flow pattern in idiopathic normal hydrocephalus was ventricular reflux of gadobutrol from the subarachnoid space followed by transependymal gadobutrol migration. At the brain surfaces, gadobutrol propagated antegradely along large leptomeningeal arteries in all study subjects, and preceded glymphatic enhancement in adjacent brain tissue, indicating a pivotal role of intracranial pulsations for glymphatic function. In

  12. Subdural Effusions with Hydrocephalus after Severe Head Injury: Successful Treatment with Ventriculoperitoneal Shunt Placement: Report of 3 Adult Cases

    Directory of Open Access Journals (Sweden)

    N. Tzerakis

    2010-01-01

    Full Text Available Background. Subdural collections of cerebrospinal fluid (CSF with associated hydrocephalus have been described by several different and sometimes inaccurate terms. It has been proposed that a subdural effusion with hydrocephalus (SDEH can be treated effectively with a ventriculoperitoneal shunt (V-P shunt. In this study, we present our experience treating patients with SDEH without directly treating the subdural collection. Methods. We treated three patients with subdural effusions and hydrocephalus as a result of a head injury. All the patients were treated with a V-P shunt despite the fact that there was an extra-axial CSF collection with midline shift. Results. In all of the patients, the subdural effusions subsided and the ventricular dilatation improved in the postoperative period. The final clinical outcome remains difficult to predict and depends not only on the successful CSF diversion but also on the primary and secondary brain insult. Conclusion. Subdural effusions with hydrocephalus can be safely and effectively treated with V-P shunting, without directly treating the subdural effusion which subsides along with the treatment of hydrocephalus. However, it is extremely important to make an accurate diagnosis of an SDEH and differentiate this condition from other subdural collections which require different management.

  13. [Congenital hypothyroidism].

    Science.gov (United States)

    Castilla Peón, María Fernanda

    Congenital hypothyroidism (CH) is a cause of preventable mental retardation; therefore, timely diagnosis and treatment by the primary care physician is very important. CH screening must be performed between the second and fifth days of life with capillary blood done with a heel prick and must be confirmed by measurement of thyroid hormones in venous blood. The most common cause of CH is thyroid dysgenesis, which may be identified by a thyroid scan carried out before initiating treatment. Treatment should be with levothyroxine (10-15μg/kg/day) and should not be delayed or suspended during the first 3 years of life due to the deleterious effect on neurodevelopment in case of low thyroid hormones during this time. Preterm or sick infants or those with Down syndrome require special consideration. This article provides diagnostic and therapeutic algorithms for CH. Copyright © 2015 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

  14. Experimental hydrocephalus following mechanical increment of intraventricular pulse pressure.

    Science.gov (United States)

    Di Rocco, C; Pettorossi, V E; Caldarelli, M; Mancinelli, R; Velardi, F

    1977-11-15

    Experimental hydrocephalus has been induced in lambs by artificial increase of the amplitude of intraventricular cerebrospinal fluid (CSF) oscillations related to arterial pulsations, without concomitant changes of the mean CSF-pressure. The characteristics of this hydrocephalus demonstrate that the intraventricular CSF-pulsations can play a role in the genesis of ventricular dilation. Such a method may be used to produce an original model of hydrocephalus independent of changes of CSF-circulation or absorption.

  15. Mechanisms of Hydrocephalus after Neonatal and Adult Intraventricular Hemorrhage

    OpenAIRE

    Strahle, Jennifer; Garton, Hugh J.L.; Maher, Cormac O.; Muraszko, Karin M.; Keep, Richard F.; Xi, Guohua

    2012-01-01

    Intraventricular hemorrhage (IVH) is a cause of significant morbidity and mortality and is an independent predictor of a worse outcome in intracerebral hemorrhage (ICH) and germinal matrix hemorrhage (GMH). IVH may result in both injuries to the brain as well as hydrocephalus. This paper reviews evidence on the mechanisms and potential treatments for IVH-induced hydrocephalus. One frequently cited theory to explain hydrocephalus after IVH involves obliteration of the arachnoid villi by microt...

  16. Diagnosis and differential diagnosis of hydrocephalus in adults

    International Nuclear Information System (INIS)

    Langner, Soenke; Mensel, Birger; Kuehn, Jens Peter; Kirsch, Michael; Fleck, Steffen; Baldauf, Joerg

    2017-01-01

    Hydrocephalus is caused by an imbalance of production and absorption of cerebrospinal fluid (CSF) or obstruction of its pathways, resulting in ventricular dilatation and increased intracranial pressure. Imaging plays a crucial role in the diagnosis, differential diagnosis and planning of treatment. This review article presents the different types of hydrocephalus und their typical imaging appearance, describes imaging techniques, and discusses differential diagnoses of the different forms of hydrocephalus. Imaging plays a central role in the diagnosis of hydrocephalus. While magnetic resonance (MR) imaging is the first-line imaging modality, computed tomography (CT) is often the first-line imaging test in emergency patients.

  17. Prevalence of hydrocephalus in 157 patients with vestibular schwannoma

    Energy Technology Data Exchange (ETDEWEB)

    Rogg, Jeffrey M.; Ahn, S.H.; Tung, G.A. [Rhode Island Hospital, Department of Diagnostic Imaging, Providence, Rhode Island (United States); Reinert, S.E. [Rhode Island Hospital, Lifespan Medical Computing, Providence, Rhode Island (United States); Noren, G. [Rhode Island Hospital, Department of Neurosurgery, Providence, Rhode Island (United States)

    2005-05-01

    The purpose of this study was to determine the prevalence of hydrocephalus in patients with vestibular schwannoma. A second objective was to investigate possible etiologies for hydrocephalus in this population by attempting to correlate the incidence and severity of hydrocephalus with tumor volume and extent of fourth ventricular compression. The MRI examinations of 157 adult patients with vestibular schwannoma were retrospectively reviewed. Tumor size was quantified, and the presence of accompanying hydrocephalus was assessed, categorized as communicating type or non-communicating type and then rated as mild, moderate or severe (grades 1-3). Next, the degree of fourth ventricular distortion caused by tumor mass effect was evaluated and categorized as mild, moderate or severe (grades 1-3). Spearman's rank correlation coefficient was used to test the relationships between tumor volume and (1) the extent of fourth ventricular effacement and (2) severity of hydrocephalus. Hydrocephalus was present in 28/157 (18%) cases and was categorized as mild in 11/28 (39%), moderate in 15/28 (54%) and severe in 2/28 (7%). Communicating-type hydrocephalus was present in 17/28 (61%) and non-communicating type in 11/28 (39%). There was a positive correlation between the grade of non-communicating hydrocephalus and tumor volume (r=0.38; P<0.001) and between the severity of fourth ventricular compression and extent of hydrocephalus in this group(r=0.43; P<0.001). (orig.)

  18. Controversy about Management of Hydrocephalus - Shunt vs. Endoscopic Third Ventriculostomy.

    Science.gov (United States)

    Kumar, Vikas; Bodeliwala, Shaam; Singh, Daljit

    2017-08-01

    The best management of hydrocephalus is still controversial in the twenty-first century. Shunt treatment for hydrocephalus is the most common procedure performed in neurosurgical practice and is associated with the highest complications rate. But during the last 2 decades, the treatment of hydrocephalus has improved with better shunt devices available today, increased facilities for investigations and newer approaches like endoscopic third ventriculostomy. The recent advances in development of better endoscopes have provided the patient and treating doctor with an option for an alternative surgery for treatment of hydrocephalus.

  19. Mechanisms of hydrocephalus in cerebral cysticercosis: implications for therapy

    International Nuclear Information System (INIS)

    Estanol, B.; Kleriga, E.; Loyo, M.; Mateos, H.; Lombardo, L.; Gordon, F.; Saguchi, A.F.

    1983-01-01

    Patients with hydrocephalus secondary to cerebral cysticercosis are a highly heterogeneous group. The mechanisms of hydrocephalus in these patients are multiple. Intraventricular cysts may be found in the 3rd and 4th ventricles, the sylvian aqueduct, and the foramen of Monro. Intraventricular cysts can be suspected when the 3rd and 4th ventricles or aqueduct remain enlarged despite shunting. Intraventricular contrast medium demonstrates the presence of the parasites. The intraventricular cysts should be removed surgically. Hydrocephalus due to cisternal cysticercosis can be diagnosed by isotope cisternography. These patients should receive shunts, but the long term prognosis is probably poor. Guidelines for the management of hydrocephalus due to cysticercosis are suggested

  20. Mechanisms of hydrocephalus in cerebral cysticercosis: implications for therapy

    Energy Technology Data Exchange (ETDEWEB)

    Estanol, B.; Kleriga, E.; Loyo, M.; Mateos, H.; Lombardo, L.; Gordon, F.; Saguchi, A.F.

    1983-08-01

    Patients with hydrocephalus secondary to cerebral cysticercosis are a highly heterogeneous group. The mechanisms of hydrocephalus in these patients are multiple. Intraventricular cysts may be found in the 3rd and 4th ventricles, the sylvian aqueduct, and the foramen of Monro. Intraventricular cysts can be suspected when the 3rd and 4th ventricles or aqueduct remain enlarged despite shunting. Intraventricular contrast medium demonstrates the presence of the parasites. The intraventricular cysts should be removed surgically. Hydrocephalus due to cisternal cysticercosis can be diagnosed by isotope cisternography. These patients should receive shunts, but the long term prognosis is probably poor. Guidelines for the management of hydrocephalus due to cysticercosis are suggested.

  1. Hydrocephalus: a rare initial manifestation of sporadic intramedullary hemangioblastoma : Intramedullary hemangioblastoma presenting as hydrocephalus.

    Science.gov (United States)

    Morais, Barbara Albuquerque; Cardeal, Daniel Dante; Ribeiro E Ribeiro, Renan; Frassetto, Fernando Pereira; Andrade, Fernanda Goncalves; Matushita, Hamilton; Teixeira, Manoel Jacobsen

    2017-08-01

    Intramedullary hemangioblastomas are rare benign vascular tumors, infrequent in pediatric patients. Clinical symptoms vary according to the age of presentation, tumor size, location, and concomitant syringomyelia. This is the second reported case of hemangioblastoma presenting with acute hydrocephalus. A 3-month-old infant with acute hydrocephalus was asymptomatic after a ventriculoperitoneal shunt was placed. She returned 3 months later with irritability, acute paraplegia, and respiratory distress. Magnetic resonance imaging (MRI) showed an intramedullary T8-T9 tumor with syringomyelia. She underwent surgical resection with good results during the 6-month follow-up. Intramedullary tumors may present as hydrocephalus and other nonspecific symptoms, with invariably delayed diagnosis in children, but must be considered in suspicious cases.

  2. Stereotactic CO2 laser therapy for hydrocephalus

    Science.gov (United States)

    Kozodoy-Pins, Rebecca L.; Harrington, James A.; Zazanis, George A.; Nosko, Michael G.; Lehman, Richard M.

    1994-05-01

    A new fiber-optic delivery system for CO2 radiation has been used to successfully treat non-communicating hydrocephalus. This system consists of a hollow sapphire waveguide employed in the lumen of a stereotactically-guided neuroendoscope. CO2 gas flows through the bore of the hollow waveguide, creating a path for the laser beam through the cerebrospinal fluid (CSF). This delivery system has the advantages of both visualization and guided CO2 laser radiation without the same 4.3 mm diameter scope. Several patients with hydrocephalus were treated with this new system. The laser was used to create a passage in the floor of the ventricle to allow the flow of CSF from the ventricles to the sub-arachnoid space. Initial postoperative results demonstrated a relief of the clinical symptoms. Long-term results will indicate if this type of therapy will be superior to the use of implanted silicone shunts. Since CO2 laser radiation at 10.6 micrometers is strongly absorbed by the water in tissue and CSF, damage to tissue surrounding the lesion with each laser pulse is limited. The accuracy and safety of this technique may prove it to be an advantageous therapy for obstructive hydrocephalus.

  3. Communicating hydrocephalus subsequent to purulent meningitis

    International Nuclear Information System (INIS)

    Suzuki, Hiroshi; Ogawa, Kimio; Hibio, Shuichi; Goto, Kazuhiko; Shiihara, Hiroaki

    1984-01-01

    Based on CT findings one year after shunting, ventricular dialtion was classified into five degrees for examining prognosis of communicating hydrocephalus subsequent to purulent meningitis. Factors causing and aggravating hydrocephalus were also examined. Patients with hydrocephalus tended to have spasms frequently as the first symptom within one month after birth when there were few characteristic findings. Spasm and disturbance of consciousness occurred frequently during the first week of the occurrence of disease. Large numbers of cells in the spinal fluid and high volume of spinal cord protein were persistent in patients aged one month or less. Chloride transport decreased in patients aged two months or more. The occurrence of syndrome of the pyramidal tract, eye symptoms, movement of head to the left and right, and involuntary movement suggested serious conditions of the disease. Disturbance of movement could be relieved by giving adequate antibiotics as soon as meningitis was discovered within one month after birth and by giving chloramphenicol when symptoms suggesting the development of serious conditions occurred. However, mental retardation and epilepsy could not be prevented. (Namekawa, K.)

  4. Shunting outcomes in posthemorrhagic hydrocephalus: results of a Hydrocephalus Clinical Research Network prospective cohort study.

    Science.gov (United States)

    Wellons, John C; Shannon, Chevis N; Holubkov, Richard; Riva-Cambrin, Jay; Kulkarni, Abhaya V; Limbrick, David D; Whitehead, William; Browd, Samuel; Rozzelle, Curtis; Simon, Tamara D; Tamber, Mandeep S; Oakes, W Jerry; Drake, James; Luerssen, Thomas G; Kestle, John

    2017-07-01

    OBJECTIVE Previous Hydrocephalus Clinical Research Network (HCRN) retrospective studies have shown a 15% difference in rates of conversion to permanent shunts with the use of ventriculosubgaleal shunts (VSGSs) versus ventricular reservoirs (VRs) as temporization procedures in the treatment of hydrocephalus due to high-grade intraventricular hemorrhage (IVH) of prematurity. Further research in the same study line revealed a strong influence of center-specific decision-making on shunt outcomes. The primary goal of this prospective study was to standardize decision-making across centers to determine true procedural superiority, if any, of VSGS versus VR as a temporization procedure in high-grade IVH of prematurity. METHODS The HCRN conducted a prospective cohort study across 6 centers with an approximate 1.5- to 3-year accrual period (depending on center) followed by 6 months of follow-up. Infants with premature birth, who weighed less than 1500 g, had Grade 3 or 4 IVH of prematurity, and had more than 72 hours of life expectancy were included in the study. Based on a priori consensus, decisions were standardized regarding the timing of initial surgical treatment, upfront shunt versus temporization procedure (VR or VSGS), and when to convert a VR or VSGS to a permanent shunt. Physical examination assessment and surgical technique were also standardized. The primary outcome was the proportion of infants who underwent conversion to a permanent shunt. The major secondary outcomes of interest included infection and other complication rates. RESULTS One hundred forty-five premature infants were enrolled and met criteria for analysis. Using the standardized decision rubrics, 28 infants never reached the threshold for treatment, 11 initially received permanent shunts, 4 were initially treated with endoscopic third ventriculostomy (ETV), and 102 underwent a temporization procedure (36 with VSGSs and 66 with VRs). The 2 temporization cohorts were similar in terms of sex, race

  5. Congenital rubella

    Science.gov (United States)

    ... that usually closes shortly after birth remains open ( patent ductus arteriosus ) Narrowing of the large artery that ... prior to pregnancy can prevent congenital rubella. Pregnant women who have not had the vaccine should avoid ...

  6. A mutation in the FOXE3 gene causes congenital primary aphakia in an autosomal recessive consanguineous Pakistani family

    DEFF Research Database (Denmark)

    Anjum, Iram; Eiberg, Hans; Baig, Shahid Mahmood

    2010-01-01

    of the population in this region of Pakistan which has prevailed for many months. CONCLUSIONS: FOXE3 is responsible for the early developmental arrest of the lens placode, and the complete loss of a functional FOXE3 protein results in primary aphakia. It can also be deduced that this mutation is quite primitive...

  7. Posttraumatic hydrocephalus: a clinical, neuroradiologic, and neuropsychologic assessment of long-term outcome.

    Science.gov (United States)

    Mazzini, Letizia; Campini, Riccardo; Angelino, Elisabetta; Rognone, Felice; Pastore, Ilaria; Oliveri, Giuseppe

    2003-11-01

    To detect the clinical and radiologic characteristics of posttraumatic hydrocephalus (PTH), to define its prognostic value, and to assess the effects of shunt surgery. Correlational study on a prospective cohort. Brain injury rehabilitation center. One hundred forty patients with severe traumatic brain injury (TBI) referred to an inpatient intensive rehabilitation unit of primary care in a university-based system. Not applicable. The Glasgow Outcome Scale (GOS), Disability Rating Scale (DRS), FIM instrument, and Neurobehavioural Rating Scale (NRS), as well as single-photon emission computed tomography (SPECT) and magnetic resonance imaging. PTH was found in 45% of patients. Risk factors for PTH were as follows: age (PTBI. It influences functional and behavioral outcome and the appearance of posttraumatic epilepsy. The selection of patients for surgery can be defined principally on a clinical basis. SPECT may be helpful for differentiating ventricular enlargement due to cortical atrophy and hydrocephalus.

  8. Tetraventricular hydrocephalus due to ruptured intracranial dermoid cyst

    International Nuclear Information System (INIS)

    Karabulut, N.; Oguzkurt, L.

    2000-01-01

    We present the MR imaging findings in a patient who developed tetraventricular hydrocephalus after massive rupture of dermoid cysts with generalized subarachnoid and ventricular spread of cyst contents. The development of tetraventricular hydrocephalus due to ruptured dermoid is a very unusual complication, and was attributed to cyst contents interfering with passage of cerebrospinal fluid through the arachnoid granulations and fourth ventricular outlet foramina. (orig.)

  9. Hydrocephalus in adults with community-acquired bacterial meningitis

    NARCIS (Netherlands)

    Soemirien Kasanmoentalib, E.; Brouwer, Matthijs C.; van der Ende, Arie; van de Beek, Diederik

    2010-01-01

    Objective: To evaluate the occurrence, treatment, and outcome of hydrocephalus complicating community-acquired bacterial meningitis in adults. Methods: Case series from a prospective nationwide cohort study from Dutch hospitals from 2006 to 2009. Results: Hydrocephalus was diagnosed in 26 of 577

  10. Meaning Construction and Integration in Children with Hydrocephalus

    Science.gov (United States)

    Barnes, Marcia A.; Faulkner, Heather; Wilkinson, Margaret; Dennis, Maureen

    2004-01-01

    Text comprehension processes were investigated in children with hydrocephalus, a neurodevelopmental disorder associated with good word decoding, but deficient reading comprehension. In Experiment 1, hydrocephalus and control groups were similar in processes related to activating word meanings and using context to enhance meaning. The hydrocephalus…

  11. Phenotypic characteristics of hydrocephalus in stillborn Friesian foals.

    Science.gov (United States)

    Sipma, K D; Cornillie, P; Saulez, M N; Stout, T A E; Voorhout, G; Back, W

    2013-11-01

    Hydrocephalus is uncommon in horses. However, in recent years, it has become clear that the prevalence of hydrocephalus is greater in Friesian horses than in other breeds probably due to their limited gene pool. Before identification of candidate genes that predispose to the development of hydrocephalus in Friesian horses can be pursued, an in-depth, phenotypic, pathological description of the condition in Friesians would be of great benefit. Our study aimed to characterize the morphology of hydrocephalus in Friesian horses, to support further investigation of the genetic background of this condition. Four stillborn Friesian foals with hydrocephalus were examined macroscopically and microscopically and compared with 2 normal stillborn Friesian foals without hydrocephalus. In all clinical cases, tetraventricular and venous dilatations were observed, together with malformation of the petrosal bone and, as a result, narrowing of the jugular foramen. These observations suggest a communicative hydrocephalus with a diminished absorption of cerebrospinal fluid into the systemic circulation at the venous sinuses due to a distorted, nonfunctional jugular foramen. This type of hydrocephalus is also recognized in humans and dogs and has been linked genetically to chondrodysplasia; this has already been recognized in dwarfism, which is another monogenetic defect in Friesian horses.

  12. Management and functional outcome of childhood hydrocephalus at ...

    African Journals Online (AJOL)

    Background: Hydrocephalus is a pathological condition caused by abnormalities of production or absorption of CSF in the brain. The goal of this study was to evaluate the current management and outcome of children (aged 13 years and below) who were treated for hydrocephalus in a single institution in Kenya. Methods: A ...

  13. Congenital tumors of the central nervous system

    Energy Technology Data Exchange (ETDEWEB)

    Severino, Mariasavina [G. Gaslini Children' s Hospital, Department of Neuroradiology, Genoa (Italy); Schwartz, Erin S. [The Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States); Thurnher, Majda M. [Medical University of Vienna, Department of Radiology, Vienna (Austria); Rydland, Jana [MR Center, St. Olav' s Hospital HF, Trondheim (Norway); Nikas, Ioannis [Agia Sophia Children' s Hospital, Imaging Department, Athens (Greece); Rossi, Andrea [G. Gaslini Children' s Hospital, Department of Neuroradiology, Genoa (Italy); G. Gaslini Children' s Hospital, Department of Pediatric Neuroradiology, Genoa (Italy)

    2010-06-15

    Congenital tumors of the central nervous system (CNS) are often arbitrarily divided into ''definitely congenital'' (present or producing symptoms at birth), ''probably congenital'' (present or producing symptoms within the first week of life), and ''possibly congenital'' (present or producing symptoms within the first 6 months of life). They represent less than 2% of all childhood brain tumors. The clinical features of newborns include an enlarged head circumference, associated hydrocephalus, and asymmetric skull growth. At birth, a large head or a tense fontanel is the presenting sign in up to 85% of patients. Neurological symptoms as initial symptoms are comparatively rare. The prenatal diagnosis of congenital CNS tumors, while based on ultrasonography, has significantly benefited from the introduction of prenatal magnetic resonance imaging studies. Teratomas constitute about one third to one half of these tumors and are the most common neonatal brain tumor. They are often immature because of primitive neural elements and, rarely, a component of mixed malignant germ cell tumors. Other tumors include astrocytomas, choroid plexus papilloma, primitive neuroectodermal tumors, atypical teratoid/rhabdoid tumors, and medulloblastomas. Less common histologies include craniopharyngiomas and ependymomas. There is a strong predilection for supratentorial locations, different from tumors of infants and children. Differential diagnoses include spontaneous intracranial hemorrhage that can occur in the presence of coagulation factor deficiency or underlying vascular malformations, and congenital brain malformations, especially giant heterotopia. The prognosis for patients with congenital tumors is generally poor, usually because of the massive size of the tumor. However, tumors can be resected successfully if they are small and favorably located. The most favorable outcomes are achieved with choroid plexus tumors

  14. Congenital tumors of the central nervous system

    International Nuclear Information System (INIS)

    Severino, Mariasavina; Schwartz, Erin S.; Thurnher, Majda M.; Rydland, Jana; Nikas, Ioannis; Rossi, Andrea

    2010-01-01

    Congenital tumors of the central nervous system (CNS) are often arbitrarily divided into ''definitely congenital'' (present or producing symptoms at birth), ''probably congenital'' (present or producing symptoms within the first week of life), and ''possibly congenital'' (present or producing symptoms within the first 6 months of life). They represent less than 2% of all childhood brain tumors. The clinical features of newborns include an enlarged head circumference, associated hydrocephalus, and asymmetric skull growth. At birth, a large head or a tense fontanel is the presenting sign in up to 85% of patients. Neurological symptoms as initial symptoms are comparatively rare. The prenatal diagnosis of congenital CNS tumors, while based on ultrasonography, has significantly benefited from the introduction of prenatal magnetic resonance imaging studies. Teratomas constitute about one third to one half of these tumors and are the most common neonatal brain tumor. They are often immature because of primitive neural elements and, rarely, a component of mixed malignant germ cell tumors. Other tumors include astrocytomas, choroid plexus papilloma, primitive neuroectodermal tumors, atypical teratoid/rhabdoid tumors, and medulloblastomas. Less common histologies include craniopharyngiomas and ependymomas. There is a strong predilection for supratentorial locations, different from tumors of infants and children. Differential diagnoses include spontaneous intracranial hemorrhage that can occur in the presence of coagulation factor deficiency or underlying vascular malformations, and congenital brain malformations, especially giant heterotopia. The prognosis for patients with congenital tumors is generally poor, usually because of the massive size of the tumor. However, tumors can be resected successfully if they are small and favorably located. The most favorable outcomes are achieved with choroid plexus tumors, where aggressive surgical treatment leads to disease

  15. Linfedema primário congênito em bovinos Red Angus Primary congenital lymphedema in Red Angus cattle

    Directory of Open Access Journals (Sweden)

    Juliana Targino S.A. Macêdo

    2009-09-01

    Full Text Available Casos de linfedema congênito foram observados acometendo 12 terneiros cruza Red Angus na região Central do Rio Grande do Sul. Os terneiros afetados apresentavam graus variáveis de edema subcutâneo ao nascimento, envolvendo principalmente os membros pélvicos, mas também outras regiões do corpo. A injeção de solução a 5% de azul de metileno no espaço interdigital dos membros pélvicos de três terneiros afetados e um controle, indicaram uma interrupção no fluxo da linfa, sugerindo uma falha dos linfáticos periféricos distais em contactar os troncos centrais. Na necropsia de três terneiros afetados, edema subcutâneo foi observado de modo variável nos membros pélvicos, prepúcio e abdômen ventral. Não foi observado edema nas cavidades orgânicas. Em dois casos, observou-se hipoplasia dos linfonodos poplíteos associadas à dilatação dos vasos linfáticos. Testes de DNA demonstraram que todos os terneiros afetados nasceram de vacas inseminadas pelo mesmo touro, sugerindo uma base genética para a doença. Levando em consideração que uma pequena porcentagem de terneiros nasceram de vacas inseminadas pelo touro suspeito, é provável que um modo autossômico recessivo esteja envolvido na hereditariedade da doença.Cases of congenital lymphedema were observed affecting 12 cross Red Angus calves from the central region of the state of Rio Grande do Sul, Brazil. Affected calves presented variable degrees of subcutaneous edema at birth, involving mainly the hind limbs but also other body regions. The injection of methylene blue dye in 5% solution into the interdigital space of the hind limbs of three affected calves and one normal control indicated an interruption of the lymph flow in the affected calves; this suggests a failure of the distal peripheral lymphatics to connect with the central trunks. At necropsy of three affected calves subcutaneous edema was variably observed in the hind limbs, prepuce and ventral abdomen. Edema

  16. Unrecognised ventriculitis/meningitis presenting as hydrocephalus in infancy.

    Science.gov (United States)

    Udani, Vrajesh; Udani, Soonu; Merani, Rohan; Bavdekar, Manisha

    2003-09-01

    Infantile hydrocephalus due to unrecognized neonatal-onset meningitis/ventriculitis, was studied retrospectively using 1991-1998 chart review. Seventy two patients with hydrocephalus were reviewed. Thirteen infants had hydrocephalus associated with active meningitis/ventriculitis which had remained unrecognized. Active meningitis/ventriculitis was confirmed by the finding of an abnormal lumbar and ventricular CSF with or without positive culture. All had perinatal risk factors and 10/13 had been given antibiotics in the postnatal period. 6/13 infants appeared to be well. The most common presentation was increasing head size. All lumbar and ventricular CSFs were abnormal and 10/13 had positive cultures as well. Imaging revealed hydrocephalus in all. The infants were treated with antibiotics for a mean of 32.8 days before VP shunting. 7/11 were severely disabled. Unrecognized active meningitis/ventriculitis is an important cause of infantile hydrocephalus.

  17. Our experience in the management of infantile hydrocephalus: A study on thirty-five regrouped cases in Yaounde, Cameroon

    Directory of Open Access Journals (Sweden)

    F F Mouafo Tambo

    2011-01-01

    Full Text Available Background: Hydrocephalus is a frequent central nervous system disorder in children, and despite its importance, it has not been sufficiently studied in developing countries. Patients and Methods: A prospective and descriptive study on 35 cases of infantile hydrocephalus was carried out in the neurosurgery unit of the Yaounde Central Hospital, from March 2008 to January 2010. Results: The mean age of the patients was 6.69΁1.58 months, and the majority of them were in the 0-6 months age group (71.43%. The most frequent causes were congenital malformations, with stenosis of the aqueduct of Sylvius being the most represented (31.43%. As radiological workup, a CT scan was done in more than half of the cases (57.15%, and ventriculo-peritoneal shunting was the main surgical method of management used (94.29%. Infectious complications were observed in 22.86% of our cases. Conclusion: Hydrocephalus is a frequent disorder in this Cameroonian setting affecting mostly the 0-6months age group. For early diagnosis to be made, the head circumference of neonates should be routinely measured in the labour room and followed-up in all medical visits. To avert complications following surgery, rigorous surgical procedures with effective asepsis and appropriate methods and materials for shunting should be used.

  18. Congenital club foot in a teaching hospital in Lagos, Nigeria.

    Science.gov (United States)

    Adewole, O A; Giwa, S O; Kayode, M O; Shoga, M O; Balogun, R A

    2009-06-01

    Congenital club foot has been sparsely reported in literature in Nigeria, although it has been reported as the commonest congenital musculoskeletal abnormality. This study enumerates the point prevalence of this disease in a university teaching hospital in Lagos. Better understanding of the epidemiology in our community should improve awareness, and influence management. Between June 2005 and July 2006, 72 consecutive patients with congenital club feet were seen in the orthopaedic clinic of our Hospital. Demographic data, birth weight, family history, birth facility, maternal age and associated congenital anomalies were recorded and analysed using Statistical Programme for Social Sciences (SPSS) version 15. A total of 72 patients were seen, 28 of whom had bilateral club feet resulting in a total of 100 feet. There were 38 males and 34 females. Only 29% presented in the first month of life and 28% in the second month. Maternal ages ranged between 19 and 38 years and no family history of congenital club foot was given,. Babies delivered outside the orthodox medical system (churches, traditional healers, home etc) constituted 28%. The commonest associated congenital anomalies were tibia hemimelia, hydrocephalus, inguinal hernia and umbilical hernia. A default rate of 28% was observed during treatment. Congenital club foot may not be uncommon in Nigeria. Late presentation and high default rate before correction of the deformity were observed. Establishment of special club foot clinics should reduce the default rate. Training of healthcare workers in maternity units as well as Public awareness should encourage early referral to specialists.

  19. Long term ocular and neurological involvement in severe congenital toxoplasmosis.

    Science.gov (United States)

    Meenken, C; Assies, J; van Nieuwenhuizen, O; Holwerda-van der Maat, W G; van Schooneveld, M J; Delleman, W J; Kinds, G; Rothova, A

    1995-06-01

    This study was set up to determine the long term ocular and systemic sequelae in patients with severe congenital toxoplasmosis. Cross sectional and retrospective study of 17 patients with severe congenital toxoplasmosis. In addition to chorioretinitis (100%), the most common abnormal ocular features were optic nerve atrophy (83%), visual acuity of less than 0.1 (85%), strabismus, and microphthalmos. In 50% of cases we observed iridic abnormalities and about 40% developed a cataract. Overt endocrinological disease, diagnosed in five of 15 patients, included panhypopituitarism (n = 2), gonadal failure with dwarfism (n = 1), precocious puberty with dwarfism and thyroid deficiency (n = 1), and diabetes mellitus and thyroid deficiency (n = 1). The observed endocrinological involvement was associated in all cases with obstructive hydrocephalus with a dilated third ventricle and optic nerve atrophy. The recognition of long term ocular, neurological, and endocrinological sequelae of congenital toxoplasmosis is important for medical management of these severely handicapped patients.

  20. CT findings of central nervous system in congenital syphilis infant

    International Nuclear Information System (INIS)

    Yang Cheng; Yang Xinghui; Wang Man

    2005-01-01

    Objective: To investigate the CT features of the central nervous system in congenital syphilis infant. Methods: CT findings of central nervous system in 11 infants with clinically proved congenital syphilis were analyzed retrospectively. Results: CT findings in 10 syphilis neonates were diffuse hypodense lesions in the white matter, with subarachnoid and intra-encephalic hemorrhage in 3 and 1 cases, respectively. One 2-month-old syphilis infant case and 5 cases of follow-up after 45 days to 6 months of treatment demonstrated bilateral widened sulci and cistern with enlarged ventricles in 3 of them. Conclusion: CT findings of the central nervous system in congenital syphilis infant are similar to those of hypoxic-ischemic encephalopathy in neonates, and extra-encephalic hydrocephalus or brain hypogenesis ensues later on. (authors)

  1. Diagnosis and Differential Diagnosis of Hydrocephalus in Adults.

    Science.gov (United States)

    Langner, Sönke; Fleck, Steffen; Baldauf, Jörg; Mensel, Birger; Kühn, Jens Peter; Kirsch, Michael

    2017-08-01

    Purpose  Hydrocephalus is caused by an imbalance of production and absorption of cerebrospinal fluid (CSF) or obstruction of its pathways, resulting in ventricular dilatation and increased intracranial pressure. Imaging plays a crucial role in the diagnosis, differential diagnosis and planning of treatment. Methods  This review article presents the different types of hydrocephalus und their typical imaging appearance, describes imaging techniques, and discusses differential diagnoses of the different forms of hydrocephalus. Results and Conclusion  Imaging plays a central role in the diagnosis of hydrocephalus. While magnetic resonance (MR) imaging is the first-line imaging modality, computed tomography (CT) is often the first-line imaging test in emergency patients. Key points   · Occlusive hydrocephalus is caused by obstruction of CSF pathways.. · Malabsorptive hydrocephalus is caused by impaired CSF absorption.. · The MR imaging protocol should always include sagittal high-resolution T2-weighted images.. · When an inflammatory etiology is suspected, imaging with contrast agent administration is necessary.. Citation Format · Langner S, Fleck S, Baldauf J et al. Diagnosis and Differential Diagnosis of Hydrocephalus in Adults. Fortschr Röntgenstr 2017; 189: 728 - 739. © Georg Thieme Verlag KG Stuttgart · New York.

  2. Congenital amusias.

    Science.gov (United States)

    Tillmann, B; Albouy, P; Caclin, A

    2015-01-01

    In contrast to the sophisticated music processing reported in the general population, individuals with congenital amusia show deficits in music perception and production. Congenital amusia occurs without brain damage, sensory or cognitive deficits, and has been suggested as a lifelong deficit with genetic origin. Even though recognized for a long time, this disorder has been systematically studied only relatively recently for its behavioral and neural correlates. The currently most investigated hypothesis about the underlying deficits concerns the pitch dimension, notably with impaired pitch discrimination and memory. Anatomic and functional investigations of pitch processing revealed that the amusic brain presents abnormalities in the auditory and inferior frontal cortices, associated with decreased connectivity between these structures. The deficit also impairs processing of pitch in speech material and processing of the time dimension in music for some of the amusic individuals, but does not seem to affect spatial processing. Some studies suggest at least partial dissociation in the disorder between perception and production. Recent studies revealed spared implicit pitch perception in congenital amusia, supporting the power of implicit cognition in the music domain. Current challenges consist in defining different subtypes of congenital amusia as well as developing rehabilitation programs for this "musical handicap." © 2015 Elsevier B.V. All rights reserved.

  3. Diagnosis, treatment and long-term outcome in fetal hydrocephalus

    International Nuclear Information System (INIS)

    Yamasaki, Mami; Nonaka, Masahiro; Bamba, Yohei; Teramoto, Chika; Ban, Chiaki; Pooh, Ritsuko

    2011-01-01

    The objective of this study was to evaluate the method of prenatally estimating an appropriate clinical outcome in fetal hydrocephalus. Retrospective study, single institute (Osaka National Hospital). Hundred and seventeen cases with fetal hydrocephalus treated at Osaka National Hospital from 1992 to 2010 were analysed. Of the 117 cases analysed, 38% are diagnosed as isolated ventriculomegaly (IVM), 51% as other types of malformation (30 cases of myelomeningocele, 4 cases of holoprosencephaly, 4 of Dandy Walker syndrome, 10 of arachnoid cyst and 6 of encephalocele etc.) and 11% as secondary hydrocephalus. They are diagnosed between 17 and 40 weeks of gestation (average 27 weeks), 17% diagnosed between 17 and 21 weeks, 30% between 22 and 27 weeks and 53% after 28 weeks. With the exception of 9 aborted cases and 30 unknown cases too young to be evaluated or lost due to lack of follow-up, final outcome was analyzed in 78 cases. Of these 78 cases, 15% died in utero or after birth, 23% showed severe retardation, 17% moderate retardation, 26% mild retardation, and 19% showed good outcome. Long term consequences were mostly influenced by basic disease and accompanied anomalies. Hydrocephalus associated with arachnoid cyst, atresia of Monro, corpus callosum agenesis and hydrocephalus due to fetal intracranial hemorrhage are categorized in the good outcome group. On the other hand, holoprosencephaly, hydrocephalus associated with encephalocele, syndromic hydrocephalus and hydrocephalus due to fetal virus infection are categorized in the poor outcome group. In order to accurate diagnosis and proper counseling, establishment of diagnosis protocol and treatment policy for fetal hydrocephalus including not only fetal sonography, fetal MRI, toxoplasma, rubella, cytomegalovirus, herpes simplex (TORCH) screening test but also chromosomal and gene testing is required. (author)

  4. Isolated congenital heart block in undifferentiated connective tissue disease and in primary Sjögren’s syndrome: a clinical study of 81 pregnancies in 41 patients

    Directory of Open Access Journals (Sweden)

    S. Todesco

    2011-09-01

    Full Text Available Objective: To study the incidence and the features of congenital heart block (CHB in patients with undifferentiated connective tissue disease (UCTD and primary Sjögren’s syndrome (pSS. Methods: We studied 81 pregnancies of 41 women attending the Outpatients’ Clinic of the Rheumatology Unit of University Hospital of Padova from July 1989 to March 2004. Twenty five of these (61% were affected with UCTD and 16 (39% with pSS. Serologic inclusion criteria was anti-Ro/La positivity, assessed by counterimmunoelectrophoresis and ELISA. Results: CHB was found in 2 out of the 46 (4,3% pregnancies followed by our Staff and in 2 out of the 35 (5,7% included in the retrospective part of the study. In 3 cases CHB was a 3rd degree block, causing pregnancy termination in 2. The only 2nd degree block was identified in one patient at the 22nd week of gestation and treated with dexamethasone and plasma-exchange. All of the women were positive to 52 kd and 60 kd Ro autoantibodies. CHB mothers had higher titer antibodies to 52 kd Ro protein than did the mothers with healthy infants (P = 0,026. Electrocardiographic abnormalities at birth were found in 3 out of 29 asymptomatic infants. One presented sinus bradycardia, the second abnormalities of ventricular repolarization, both regressed spontaneously, while the third ventricular extrasystoles which continue even now at 5 months. Conclusion: These results showed that in UCTD and pSS there is a higher incidence of CHB than that reported in Systemic Lupus Erythematosus. Electrocardiographic screening in all infants born to mothers with anti-Ro/La antibodies would seem an important measure to identify those with irreversible heart conduction abnormalities.

  5. Gonioscopy assisted transluminal trabeculotomy: an ab interno circumferential trabeculotomy for the treatment of primary congenital glaucoma and juvenile open angle glaucoma.

    Science.gov (United States)

    Grover, Davinder S; Smith, Oluwatosin; Fellman, Ronald L; Godfrey, David G; Butler, Michelle R; Montes de Oca, Ildamaris; Feuer, William J

    2015-08-01

    To introduce a novel ab interno 360° trabeculotomy for treating primary congenital glaucoma (PCG) and juvenile open angle glaucoma (JOAG) and report preliminary results. A retrospective chart review of patients who underwent a gonioscopy assisted transluminal trabeculotomy (GATT) procedure by four of the authors (DSG, OS, RLF and DGG) between October 2011 and October 2013. The surgery was performed in patients ≤30 years old with a dysgenic anterior segment angle and uncontrolled PCG and JOAG. Fourteen eyes of 10 patients underwent GATT with follow-up >12 months (12-33 months; mean 20.4). Patients ranged in age from 17 months to 30 years (mean=18.4 years), and five (50%) were female patients. No complications occurred during or following surgery except for early postoperative hyphema in five (36%) of eyes, all cleared by 1 month. The mean intraocular pressure (IOP) decreased from 27.3 to 14.8 mm Hg and the mean number of medications required decreased from 2.6 to 0.86. Five eyes had a drop in IOP ≥15 mm Hg (range 15-39). The preliminary results and safety for GATT, a minimally invasive conjunctival sparing circumferential trabeculotomy, are promising and at least equivalent to previous results for ab externo trabeculotomy for the treatment of PCG and JOAG. All eyes in the study were considered a clinical success. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  6. Combined trabeculotomy-trabeculectomy versus Ahmed valve implantation for refractory primary congenital glaucoma in Egyptian patients: a long-term follow-up

    Science.gov (United States)

    Helmy, Hazem

    2016-01-01

    Introduction Primary congenital glaucoma (PCG) is the most common type of glaucoma in pediatric patients. The aim of this study was to compare the effectiveness of combined trabeculotomy-trabeculectomy versus Ahmed valve implantation for cases of PCG refractory to traditional incisional angle surgery (goniotomy and trabeculotomy) in the Egyptian population. Methods The study was conducted in the Glaucoma Clinic of the Research Institute of Ophthalmology (Egypt). The study included 66 eyes of 66 patients (in two groups) with advanced PCG who had previous failed goniotomy, trabeculotomy, or both. Group 1 included 33 patients who underwent trabeculotomy-trabeculectomy procedures; group 2 included 33 patients who underwent FP 8 Ahmed valve implantation. The main outcome measures were intraocular pressure (IOP) reduction, corneal diameter, and axial length stability in both groups. Secondary outcome measures included detection of complications in both groups. Results The average ages of the patients were 13.5 ± 3.9 months and 15.3 ± 5.8 months in groups 1 and 2, respectively. Ten patients (30.3%) in group 1 and 9 patients (27.3%) in group 2 had family histories of PCG. Positive consanguinity was present in 26 patients (78.8%) in group 1 and in 27 patients (81.8%) in group 2. In group 1, the mean intraocular pressure (IOP) value decreased from 33.6 ± 3.4 mmHg preoperatively to 13.8 ± 0.6, 16.9 ± 1.5, 18.2 ± 2.5, 19.8 ± 3.6, and 20.2 ± 3.1 mmHg in the first postoperative month and after years 1, 2, 3, and 4, respectively (p Ahmed valve implantation are suitable options in advanced PCG with failed trabeculotomy and goniotomy. Ahmed valve implanation has a better long-term survival, but trabeculotomy-trabeculectomy provides a second chance for surgical intervention. PMID:27053995

  7. Vertebrobasilar dolichoectasia induced hydrocephalus: the water-hammer effect

    Directory of Open Access Journals (Sweden)

    Vaso Zisimopoulou

    2015-05-01

    Full Text Available Vertebrobasilar dolichoectasia is a clinical entity associated rarely with obstructive hydrocephalus. We present a 48-year old male with a profound dilatation of the ventricular system due to a dolichoectatic basilar artery, as appeared in imaging studies. The patient suffered from longstanding hydrocephalus and presenile dementia. The underlying mechanism for obstructive hydrocephalus due to vertebrobasilar dolichoectasia is considered to be both a water-hammer effect and a direct compression of adjacent structures. We suggest prompt surgical intervention upon diagnosis as a first choice treatment in order to avoid further complications.

  8. Contemporary occurrence of hydrocephalus and Chiari I malformation in sagittal craniosynostosis. Case report and review of the literature.

    Science.gov (United States)

    Sgulò, Francesco Giovanni; Spennato, Pietro; Aliberti, Ferdinando; Di Martino, Giuliana; Cascone, Daniele; Cinalli, Giuseppe

    2017-01-01

    Chiari malformation type I (CM-I) and hydrocephalus are often associated with complex craniosynostosis. On the contrary, their simultaneous occurrence in monosutural synostosis is extremely rare. The pathophysiological hypothesis is that they may alter posterior fossa growth and lead to cerebellar tonsil herniation also without skull base primary involvement. Hydrocephalus is multifactorial and may be secondary to fourth ventricle outlet obstruction. The management of these cases is quite complex and not well defined. Cranial vault remodeling should be the only treatment when CM-I is asymptomatic and not related to syringomyelia. Suboccipital decompression should be reserved only in complicated CM-I, usually as a second surgical step following the correction of the supratentorial deformity. In our opinion, the associated hydrocephalus should be treated first in order to normalize intracranial hypertension before opening the cranial sutures. We report the case of a 26-month-old child that presented with sagittal craniosynostosis, hydrocephalus, and CM-I. He was managed by performing endoscopic third ventriculostomy (ETV) first and cranial vault remodeling thereafter. Clinico-radiological outcome was very satisfying. Concerning literature is reviewed; physiopathology and surgical management are discussed.

  9. Subdural fluid collection and hydrocephalus following cervical schwannoma resection: hydrocephalus resolution after spinal pseudomeningocele repair: case report.

    Science.gov (United States)

    Benedetto, Nicola; Cagnazzo, Federico; Gambacciani, Carlo; Perrini, Paolo

    2016-12-01

    The authors report the case of a 31-year-old man who developed neck pain and headache 2 months after the uncomplicated resection of a cervical schwannoma. MR imaging revealed infratentorial subdural fluid collections and obstructive hydrocephalus associated with cervical pseudomeningocele. The clinical symptoms, subdural fluid collections, and ventricular dilation resolved after surgical correction of the pseudomeningocele. This report emphasizes that hydrocephalus may be related to disorders of cerebrospinal fluid flow dynamics induced by cervical pseudomeningocele. In these rare cases, both the hydrocephalus and the symptoms are resolved by the simple correction of the pseudomeningocele.

  10. Low-Field Magnetic Resonance Imaging of Canine Hydrocephalus

    Directory of Open Access Journals (Sweden)

    Z. Adamiak* and M. Jaskólska and A. Pomianowski1

    2012-01-01

    Full Text Available The aim of presented study was to evaluate selected surface spine coil, and low-field magnetic resonance (MR selected sequences in diagnosing hydrocephalus in dogs. This paper discusses 19 dogs (14 canine patients with hydrocephalus and 5 healthy dogs, of five breeds, subjected to low-field magnetic resonance imaging (MRI of hydrocephalus. Area of the lateral ventricles and brain were examined in dogs with hydrocephalus using low-field MRI (at 0.25 Tesla. The MRI of FSE REL, SE, FLAIR, STIR, 3D HYCE, T3DT1, GE STIR 3D and 3D SHARC sequences with an indication of the most effective sequences are described. Additionally, coils for MR were compared, and models for infusion anesthesia were described. As a result of performed study all estimated sequences were diagnostically useful. However, spinal coil No. 2 (ESAOTE was the most optimal for examining and positioning the cranium.

  11. Congenital diplopodia

    International Nuclear Information System (INIS)

    Brower, Jason S.; Wootton-Gorges, Sandra L.; Costouros, John G.; Boakes, Jennette; Greenspan, Adam

    2003-01-01

    Diplopodia, or duplicated foot, is a rare congenital anomaly. It differs from polydactyly in that supernumerary metatarsal and tarsal bones are present as well as extra digits. Only a few cases of this anomaly have been reported in the literature to date. We present a newborn male without intrauterine teratogen exposure who was born with a duplicate foot of the left lower extremity and imperforate anus. (orig.)

  12. Congenital toxoplasmosis.

    Science.gov (United States)

    Kieffer, François; Wallon, Martine

    2013-01-01

    Congenital toxoplasmosis results from the transplacental transmission of the parasite Toxoplasma gondii after a maternal infection acquired in pregnancy. Prevalence of congenital infection ranges from 0.1 to 0.3 per 1000 live births. The maternal-fetal transmission rate increases with gestational age at maternal seroconversion, from less than 15% at 13 weeks of gestation to over 70% at 36 weeks. Conversely, the later the maternal infection, the lower the risk of symptomatic congenital infection (infections acquired during the third trimester are most often asymptomatic at birth). Prenatal diagnosis is currently performed by PCR analysis in amniotic fluid. Antenatal management and treatment vary considerably among countries. In some European countries, maternal infections are detected through serological screening allowing a prompt treatment with spiramycin, which is expected to reduce the risk of vertical transmission. If PCR analysis in amniotic fluid is positive or if maternal infection was acquired in the third trimester of pregnancy, a combination with pyrimethamine and sulphonamide is given until delivery. Benefits of antenatal treatments remain controversial. Infected newborns are prescribed pyrimethamine and sulphonamide for 12 months. Despite antenatal and postnatal treatment, chorioretinitis can occur at any age (prevalence>20% at 10 years of age): long-term ophthalmological follow-up remains necessary. Copyright © 2013 Elsevier B.V. All rights reserved.

  13. Increased risk of hydrocephalus in long-term dialysis patients.

    Science.gov (United States)

    Wang, I-Kuan; Lin, Cheng-Li; Cheng, Yu-Kai; Chou, Che-Yi; Liang, Chih-Chia; Yen, Tzung-Hai; Sung, Fung-Chang

    2016-05-01

    The risk of hydrocephalus in end-stage renal disease (ESRD) patients on dialysis has not been studied in depth. Using Taiwan National Health Insurance claims data, we identified 29 684 incident ESRD patients from 2000 to 2010, including 10 030 peritoneal dialysis (PD) patients and 19 654 hemodialysis (HD) patients. The control cohort consisted of 118 736 people randomly selected from those without kidney disease, frequency matched with ESRD patients by age, sex and index year. We also established propensity score-matched cohorts with 10 014 PD and 10 014 HD patients. The incidence rates and hazard ratios (HRs) of hydrocephalus were calculated until the end of 2011. Incidence rates of hydrocephalus were greater in HD and PD patients than in controls (8.44 and 11.0 versus 4.11 per 10 000 person-years, respectively), with an adjusted HR of 1.86 [95% confidence interval (CI) 1.43-2.41] for all ESRD patients compared with controls. A higher proportion of hydrocephalus patients underwent surgical bypass to relieve hydrocephalus in ESRD patients than controls, 40.7% (46/113) versus 24.5% (67/273), with an adjusted odds ratio of 2.11 (95% CI 1.33-3.36). Compared with controls, the adjusted HRs of communicating hydrocephalus for HD and PD patients were 1.77 (95% CI 1.22-2.55) and 2.51 (95% CI 1.61-3.89), respectively. The propensity score-matched analysis showed an HR of 0.72 (95% CI 0.42-1.23) for hydrocephalus in HD patients compared with PD patients. Patients with ESRD are at an increased risk of hydrocephalus. The risk difference between HD and PD patients is not significant. © The Author 2016. Published by Oxford University Press on behalf of ERA-EDTA. All rights reserved.

  14. A wireless monitoring system for Hydrocephalus shunts.

    Science.gov (United States)

    Narayanaswamy, A; Nourani, M; Tamil, L; Bianco, S

    2015-08-01

    Patients with Hydrocephalus are usually treated by diverting the excess Cerebrospinal Fluid (CSF) to other parts of the body using shunts. More than 40 percentage of shunts implanted fail within the first two years. Obstruction in the shunts is one of the major causes of failure (45 percent) and the detection of obstruction reduces the complexity of the revision surgery. This paper describes a proposed wireless monitoring system for clog detection and flow measurement in shunts. A prototype was built using multiple pressure sensors along the shunt catheters for sensing the location of clog and flow rate. Regular monitoring of flow rates can be used to adjust the valve in the shunt to prevent over drainage or under drainage of CSF. The accuracy of the flow measurement is more than 90 percent.

  15. Cerebral blood flow in normal pressure hydrocephalus

    International Nuclear Information System (INIS)

    Mamo, H.L.; Meric, P.C.; Ponsin, J.C.; Rey, A.C.; Luft, A.G.; Seylaz, J.A.

    1987-01-01

    A xenon-133 method was used to measure cerebral blood flow (CBF) before and after cerebrospinal fluid (CSF) removal in patients with normal pressure hydrocephalus (NPH). Preliminary results suggested that shunting should be performed on patients whose CBF increased after CSF removal. There was a significant increase in CBF in patients with NPH, which was confirmed by the favorable outcome of 88% of patients shunted. The majority of patients with senile and presenile dementia showed a decrease or no change in CBF after CSF removal. It is suggested that although changes in CBF and clinical symptoms of NPH may have the same cause, i.e., changes in the cerebral intraparenchymal pressure, there is no simple direct relation between these two events. The mechanism underlying the loss of autoregulation observed in NPH is also discussed

  16. Neonatal hydrocephalus is a result of a block in folate handling and metabolism involving 10-formyltetrahydrofolate dehydrogenase.

    Science.gov (United States)

    Naz, Naila; Jimenez, Alicia Requena; Sanjuan-Vilaplana, Anna; Gurney, Megan; Miyan, Jaleel

    2016-08-01

    Folate is vital in a range of biological processes and folate deficiency is associated with neurodevelopmental disorders such as neural tube defects and hydrocephalus (HC). 10-formyl-tetrahydrofolate-dehydrogenase (FDH) is a key regulator for folate availability and metabolic interconversion for the supply of 1-carbon groups. In previous studies, we found a deficiency of FDH in CSF associated with the developmental deficit in congenital and neonatal HC. In this study, we therefore aimed to investigate the role of FDH in folate transport and metabolism during the brain development of the congenital hydrocephalic Texas (H-Tx) rat and normal (Sprague-Dawley) rats. We show that at embryonic (E) stage E18 and E20, FDH-positive cells and/or vesicles derived from the cortex can bind methyl-folate similarly to folate receptor alpha, the main folate transporter. Hydrocephalic rats expressed diminished nuclear FDH in both liver and brain at all postnatal (P) ages tested (P5, P15, and P20) together with a parallel increase in hepatic nuclear methyl-folate at P5 and cerebral methylfolate at P15 and P20. A similar relationship was found between FDH and 5-methyl cytosine, the main marker for DNA methylation. The data indicated that FDH binds and transports methylfolate in the brain and that decreased liver and brain nuclear expression of FDH is linked with decreased DNA methylation which could be a key factor in the developmental deficits associated with congenital and neonatal HC. Folate deficiency is associated with neurodevelopmental disorders such as neural tube defects and hydrocephalus. 10-formyl-tetrahydrofolate-dehydrogenase (FDH) is a key regulator for folate availability and metabolic interconversion. We show that FDH binds and transports methylfolate in the brain. Moreover, we found that a deficiency of FDH in the nucleus of brain and liver is linked with decreased DNA methylation which could be a key factor in the developmental deficits associated with congenital and

  17. Impact of operation details on hydrocephalus after decompressive craniectomy

    Science.gov (United States)

    Wang, Qiang-Ping; Ma, Jun-Peng; Zhou, Zhang-Ming; You, Chao

    2016-01-01

    Objective: To evaluate the correlation between the distance of craniectomy from the midline and hydrocephalus after DC. Methods: The following electronic databases were searched from their inception to June 2015: Cochrane Library, MEDLINE, Science Direct, EMBASE, Scopus, Google Scholar, the Chinese Biomedical Database (CBM), and the Chinese National Knowledge Infrastructure (CNKI). All randomized clinical trials, prospective cohort, retrospective observational cohort, and case-control studies investigating the relationship between distance of craniectomy from the midline and hydrocephalus after DC were enrolled. The Cochrane Collaboration’s software RevMan 5.3 was used for meta-analysis. Results: Six retrospective cohort studies involving 462 participants were included. Pooled analysis of 4 studies suggested that craniectomy close to the midline (hydrocephalus (odds ratio [OR] = 3.61, 95% confidence interval [CI]: 1.3 - 9.97, p=0.01). However, meta-analysis of 4 studies did not find statistical differences when comparing the distance of craniectomy from the midline in the hydrocephalus group and that in the non-hydrocephalus group (OR = −0.14, 95% CI: −0.44 - 0.15, p=0.34). Conclusions: Available evidence was insufficient to support the theory that craniectomy close to the midline increases the risk of developing hydrocephalus after DC. Well-conducted randomized clinical trials are required to verify this issue. PMID:26818161

  18. Decompressive craniectomy and hydrocephalus: proposal of a therapeutic flow chart.

    Science.gov (United States)

    Peraio, Simone; Calcagni, Maria Lucia; Mattoli, Maria Vittoria; Marziali, Giammaria; DE Bonis, Pasquale; Pompucci, Angelo; Anile, Carmelo; Mangiola, Annunziato

    2017-12-01

    Decompressive craniectomy (DC) may be necessary to save the lives of patients suffering from intracranial hypertension. However, this procedure is not complication-free. Its two main complications are hydrocephalus and the sinking skin-flap syndrome (SSFS). The radiological findings and the clinical evaluation may be not enough to decide when and/or how to treat hydrocephalus in a decompressed patient. SSFS and hydrocephalus may be not unrelated. In fact, a patient affected by hydrocephalus, after the ventriculo-peritoneal shunt, can develop SSFS; on the other hand, SSFS per se can cause hydrocephalus. Treating hydrocephalus in decompressed patients can be challenging. Radiological findings and clinical evaluation may not be enough to define the most appropriate therapeutic strategy. Cerebrospinal fluid (CSF) dynamics and metabolic evaluations can represent important diagnostic tools for assessing the need of a CSF shunt in patients with a poor baseline neurologic status. Based on our experience, we propose a flow chart for treating decompressed patients affected by ventriculomegaly.

  19. Hydrocephalus after decompressive craniectomy for malignant hemispheric cerebral infarction.

    Science.gov (United States)

    Wang, Qiang-Ping; Ma, Jun-Peng; Zhou, Zhang-Ming; Yang, Min; You, Chao

    2016-08-01

    Several studies have investigated the incidence and risk factors of hydrocephalus after decompressive craniectomy (DC) for malignant hemispheric cerebral infarction. However, the results are controversial. Therefore, the following is a retrospective cohort study to determine the incidence and risk factors of hydrocephalus after DC for malignant hemispheric cerebral infarction. From January 2004 to June 2014, patients at two medical centres in south-west China, who underwent DC for malignant hemispheric cerebral infarction, were included. The patients' clinical and radiologic findings were retrospectively reviewed. A chi-square test, Mann-Whitney U-test and logistic regression model were used to identify the risk factors. A total of 128 patients were included in the study. The incidence of ventriculomegaly and shunt-dependent hydrocephalus were 42.2% (54/128) and 14.8% (19/128), respectively. Lower preoperative Glasgow Coma Scale (GCS) score and presence of subarachnoid haemorrhage (SAH) were factors significantly associated with the development of post-operative hydrocephalus after DC. Cerebral infarction patients receiving DC have a moderate tendency to suffer from post-operative hydrocephalus. A poor GCS score and the presence of SAH were significantly associated with the development of hydrocephalus after DC.

  20. Features of Somatic and Reproductive Status of Women, who Gave Birth to a Child with Congenital Malformations, and Their Identifiсation Using «Case — Control» Method According to Data of Lviv Regional Clinical Perinatal Center in 2007–2009

    Directory of Open Access Journals (Sweden)

    Zborovska N.V. Zborovska N.V.

    2012-04-01

    While comparing a range of reproductive anamnesis indices there was noticed a higher percentage of dead children, stillbirths, anemia in pregnancy, gestosis in the first half of pregnancy, gestosis in the second half of pregnancy, abnormal labors in mothers who gave birth to a child with congenital malformations than in women of control group. According to ultrasound diagnosis congenital abnormalities in pregnancy were detected in 31.6 % of cases. There were diagnosed 4 cases of Arnold — Chiari syndrome (spina bifida and internal hydrocephalus; and 3 cases of each: hydrocephalus, gastroschisis, small intestinal atresia, and 2 cases of each: congenital malformations, hypoplastic left heart syndrome, Down’s syndrome, congenital diaphragmatic hernia, omphalocele, congenital rectal atresia, and 1 case of each: spina bifida, congenital absence of forearm and hand, left ventricular rabdomioma, encephalocele.

  1. Congenital and perinatal cytomegalovirus infection

    Directory of Open Access Journals (Sweden)

    Chun Soo Kim

    2010-01-01

    Full Text Available Cytomegalovirus (CMV is currently the most common agent of congenital infection and the leading infectious cause of brain damage and hearing loss in children. Symptomatic congenital CMV infections usually result from maternal primary infection during early pregnancy. One half of symptomatic infants have cytomegalic inclusion disease (CID, which is characterized by involvement of multiple organs, in particular, the reticuloendothelial and central nervous system (CNS. Moreover, such involvement may or may not include ocular and auditory damage. Approximately 90% of infants with congenital infection are asymptomatic at birth. Preterm infants with perinatal CMV infection can have symptomatic diseases such as pneumonia, hepatitis, and thrombocytopenia. Microcephaly and abnormal neuroradiologic imaging are associated with a poor prognosis. Hearing loss may occur in both symptomatic and asymptomatic infants with congenital infection and may progress through childhood. Congenital infection is defined by the isolation of CMV from infants within the first 3 weeks of life. Ganciclovir therapy can be considered for infants with symptomatic congenital CMV infection involving the CNS. Pregnant women of seronegative state should be counseled on the importance of good hand washing and other control measures to prevent CMV infection. Heat treatment of infected breast milk at 72?#608;for 5 seconds can eliminate CMV completely.

  2. Entrópio congênito primário da pálpebra superior Congenital primary entropion of the upper eyelid

    Directory of Open Access Journals (Sweden)

    Taliana Freitas Bernardes

    2009-02-01

    Full Text Available O entrópio congênito primário da pálpebra superior é mais raro que o da pálpebra inferior. O diagnóstico no neonato, apesar de ser difícil, é imprescindível. O seu reconhecimento precoce exige a correção cirúrgica imediata, pois essa é uma condição que não melhora espontaneamente, podendo levar a úlceras de córnea com nefastas conseqüências para a visão. Várias técnicas cirúrgicas têm sido descritas para correção da deformidade. Na análise e comparação dos dados do pré, per e pós-operatório do presente caso com os descritos na literatura, é enfatizada a importância da retração da lamela posterior da pálpebra no mecanismo etiopatogênico. Com o tempo de seguimento de 34 meses, os autores apresentam o resultado e descrevem o procedimento realizado, que consistiu no deslocamento do músculo orbicular pré-tarsal e da aponeurose do músculo elevador da pálpebra superior para a área pré-septal após terem sido desinseridos da face anterior do tarso.The primary congenital entropion of the superior eyelid is more infrequent than the one of the inferior eyelid. The premature diagnosis of this deformity in newborns, although difficult, is very necessary because implies an immediate surgical correction as it is a condition that does not recover spontaneously even leading to corneal ulceration with disastrous consequences for the vision. Many surgical techniques have been described to correct this malformation. The analysis and confrontation of the pre, per and postoperative data of the current case with the ones present in the literature emphasizes the importance of the retraction of the eyelid's posterior lamella in the etiopathogenesis mechanism. With the follow-up period of 34 months the authors present the results and describe the procedure taken, which consisted in the transplantation of the pretarsal orbicular muscle and of the aponeurosis of the levator muscle for the preseptal region after being removed

  3. Classification of hydrocephalus: critical analysis of classification categories and advantages of "Multi-categorical Hydrocephalus Classification" (Mc HC).

    Science.gov (United States)

    Oi, Shizuo

    2011-10-01

    Hydrocephalus is a complex pathophysiology with disturbed cerebrospinal fluid (CSF) circulation. There are numerous numbers of classification trials published focusing on various criteria, such as associated anomalies/underlying lesions, CSF circulation/intracranial pressure patterns, clinical features, and other categories. However, no definitive classification exists comprehensively to cover the variety of these aspects. The new classification of hydrocephalus, "Multi-categorical Hydrocephalus Classification" (Mc HC), was invented and developed to cover the entire aspects of hydrocephalus with all considerable classification items and categories. Ten categories include "Mc HC" category I: onset (age, phase), II: cause, III: underlying lesion, IV: symptomatology, V: pathophysiology 1-CSF circulation, VI: pathophysiology 2-ICP dynamics, VII: chronology, VII: post-shunt, VIII: post-endoscopic third ventriculostomy, and X: others. From a 100-year search of publication related to the classification of hydrocephalus, 14 representative publications were reviewed and divided into the 10 categories. The Baumkuchen classification graph made from the round o'clock classification demonstrated the historical tendency of deviation to the categories in pathophysiology, either CSF or ICP dynamics. In the preliminary clinical application, it was concluded that "Mc HC" is extremely effective in expressing the individual state with various categories in the past and present condition or among the compatible cases of hydrocephalus along with the possible chronological change in the future.

  4. The value of early and comprehensive diagnoses in a human fetus with hydrocephalus and progressive obliteration of the aqueduct of Sylvius: Case Report.

    Science.gov (United States)

    Ortega, Eduardo; Muñoz, Rosa I; Luza, Nelly; Guerra, Francisco; Guerra, Monserrat; Vio, Karin; Henzi, Roberto; Jaque, Jaime; Rodriguez, Sara; McAllister, James P; Rodriguez, Esteban

    2016-04-11

    progressive stenosis of the SA initiated during the embryonic period may have resulted from ependymal disruption of the cerebral aqueduct and dysfunction of the subcommissural organ. The analysis of subcommissural organ glycoproteins present in the CSF may be a valuable diagnostic tool for the pathogenesis of congenital hydrocephalus.

  5. Congenital syphilis

    International Nuclear Information System (INIS)

    Lee, Sang Wook; Kim, Kyung Soo; Hur, Don

    1983-01-01

    In recent years, marked increase in incidence of congenital syphilis has occurred throughout the world due to changes in social norms and development of penicillin-resistant strains. Early diagnosis plays an important role in congenital syphilis as the clinical manifestations may simulate many other conditions in the paediatric age group. The authors analyzed 52 cases of congenital syphilis admitted to the department of paediatrics, Chosun University Hospital, clinically and radiologically. Among them, 18 cases were born in this hospital and 34 cases were admitted from OPD, during the period of 8 years from January, 1975 to December, 1982. The results obtained were as follows; 1. In 28 of 34 cases (82%), the first clinical manifestations were below the age of 3 months. 2. Among the 52 cases, a male predominance was observed with a male to female ratio of 2 : 1. 3. The serologic test (VDRL) of the 52 studied cases showed reactive response in 49 cases (94%), and that of syphilitic mothers except 6 cases, reactive in all studied cases. 4. The major manifestations of the 52 cases were bone tenderness (12%) and swelling of the joints (7%) in skeletal system, hepatosplenomegaly (79%) and skin lesions (73%) in extraskeletal one. 5. The radiological skeletal changes were detected in 45 of 52 cases (87%), and the commonest findings were detected in 45 of 52 cases (87%), and the commonest findings were metaphysitis (83%) and periostitis (81%). The most characteristic type of metaphysitis were transverse trophic line (74%) and zone of rarefaction (65%). 6. The commonest bones to be affected were growing metaphyses of the long bones, particulary about the wrist and the knee. The order of frequency were radius (80%), uina (80%), tibia (77%), femur (69%) and humerus (40%)

  6. Infant hydrocephalus in sub-Saharan Africa: the reality on the Tanzanian side of the lake.

    Science.gov (United States)

    Santos, Maria M; Rubagumya, Derick K; Dominic, Imani; Brighton, Amos; Colombe, Soledad; O'Donnell, Philip; Zubkov, Micaella R; Härtl, Roger

    2017-11-01

    OBJECTIVE Infant hydrocephalus is estimated to affect more than 100,000 new infants each year in sub-Saharan Africa (SSA). Bugando Medical Centre (BMC), a government-funded and patient cost-shared referral center, serves over 13 million people in the Lake and Western regions of Tanzania. The goals of this study were to characterize the infant population affected by hydrocephalus who presented to BMC and were treated with a ventriculoperitoneal shunt (VPS) to determine the rate of early complications associated with this surgical procedure and to assess its potential risk factors. METHODS Data were prospectively collected from all patients less than 1 year of age who, over a period of 7 months, were diagnosed with hydrocephalus and admitted to BMC for insertion of a primary VPS. Demographic data, maternal history, preoperative studies, surgical procedure, and surgical complications developing by the time of the first follow-up visit were analyzed. Risk factors associated with the surgical complications were determined. RESULTS During the 7-month study period, 125 infants eligible for the study were included in the analysis. Overall, 75% were younger than 6 months of age, and 56% were males. Only 7% of mothers had a gestational ultrasound, 98% did not receive preconception folic acid, and 25% delivered their child at home. In most patients with hydrocephalus the etiology was uncertain (56%), and other patients had postinfectious (22.4%) or myelomeningocele-associated (16%) hydrocephalus. Patients' mean head circumference on admission was 51.4 ± 6.3 cm. Their median age at shunt surgery was 137 days, and 22.4% of the patients were operated on without having undergone radiological assessment. The majority of shunts were placed in a right parietooccipital location. Thirteen patients had undergone a previous intraventricular endoscopic procedure. Overall, at least one surgical complication was found in 33.6% of patients up to the first follow-up assessment (median

  7. An update on research priorities in hydrocephalus: overview of the third National Institutes of Health-sponsored symposium "Opportunities for Hydrocephalus Research: Pathways to Better Outcomes".

    Science.gov (United States)

    McAllister, James P; Williams, Michael A; Walker, Marion L; Kestle, John R W; Relkin, Norman R; Anderson, Amy M; Gross, Paul H; Browd, Samuel R

    2015-12-01

    Building on previous National Institutes of Health-sponsored symposia on hydrocephalus research, "Opportunities for Hydrocephalus Research: Pathways to Better Outcomes" was held in Seattle, Washington, July 9-11, 2012. Plenary sessions were organized into four major themes, each with two subtopics: Causes of Hydrocephalus (Genetics and Pathophysiological Modifications); Diagnosis of Hydrocephalus (Biomarkers and Neuroimaging); Treatment of Hydrocephalus (Bioengineering Advances and Surgical Treatments); and Outcome in Hydrocephalus (Neuropsychological and Neurological). International experts gave plenary talks, and extensive group discussions were held for each of the major themes. The conference emphasized patient-centered care and translational research, with the main objective to arrive at a consensus on priorities in hydrocephalus that have the potential to impact patient care in the next 5 years. The current state of hydrocephalus research and treatment was presented, and the following priorities for research were recommended for each theme. 1) Causes of Hydrocephalus-CSF absorption, production, and related drug therapies; pathogenesis of human hydrocephalus; improved animal and in vitro models of hydrocephalus; developmental and macromolecular transport mechanisms; biomechanical changes in hydrocephalus; and age-dependent mechanisms in the development of hydrocephalus. 2) Diagnosis of Hydrocephalus-implementation of a standardized set of protocols and a shared repository of technical information; prospective studies of multimodal techniques including MRI and CSF biomarkers to test potential pharmacological treatments; and quantitative and cost-effective CSF assessment techniques. 3) Treatment of Hydrocephalus-improved bioengineering efforts to reduce proximal catheter and overall shunt failure; external or implantable diagnostics and support for the biological infrastructure research that informs these efforts; and evidence-based surgical standardization with

  8. The incidence of congenital hypotyroidism is increasing

    DEFF Research Database (Denmark)

    Leunbach, Tina Lund; Christensen, Pia Sønderby; Kristensen, Kurt

    2017-01-01

    The prognosis of primary congenital hypothyroidism, which has potentially devastating effects on neurodevelopment, has been almost eradicated after the implementation of the neonatal screening programme. Although early facilitation with substitution of levothyroxine is preventative, caution shoul...

  9. Lymphangiosarcoma in a 3.5-year-old Bullmastiff bitch with vaginal prolapse, primary lymph node fibrosis and other congenital defects : clinical communication

    Directory of Open Access Journals (Sweden)

    J.H. Williams

    2005-06-01

    Full Text Available Lymphangiosarcoma is an extremely rare tumour in dogs with only 16 cases reported in the literature. Lymphoedema, whichmaybe primary due to defects in the lymphatic system, or secondary to various other pathologies, often precedes malignancy. Of the 16 canine reports, only 1 dog was confirmed as having had prior primary lymphoedema due to aplasia of the popliteal lymph nodes. A case of lymphangiosarcoma is described in a 3.5-year-old purebred, Bullmastiff bitch which presented with vaginal blood 'spotting' for 3 weeks after cessation of oestrus, during which intromission by the male had been unsuccessful. During ovariohysterectomy a large multicystic, proliferative, spongy, fluid-filled, brownish-red mass surrounding the cervix and projecting into the abdominal space was removed with the cervix, and a diagnosis of lymphangiosarcoma made on histological and electron microscopic examination of the tissue. Ultrastructurally, no basement membrane or pericytes were found, only some of the neoplastic endothelial cells were linked by tight junctions while there were gaps between others, and neither micropinocytotic vesicles nor Weibel-Palade bodies occurred in the cells examined.Very few of the endothelial cells lining the many interlinking, tortuous maze of channels, stained slightly positive immunohistochemically for factor VIII-related antigen. The channels were filled mostly with serous fluid, and occasionally mixed leucocytes and some erythrocytes. The endothelium was often associated with underlying blocks of collagenous material, as well as looselyarranged aggregates of lymphocytes, other mononuclear cells and occasional neutrophils in the connective tissue septae and more prominently perivascularly. The bitch was discharged on antibiotic treatment but returned 2 weeks later with apparent prolapsed vagina which failed to reduce over the next week. Laparotomy revealed the tumour to have spread extensively in the caudal abdomen to involve the

  10. Congenital lymphoedema of the genitalia

    NARCIS (Netherlands)

    Bolt, R. J.; Peelen, W.; Nikkels, P. G.; de Jong, T. P.

    1998-01-01

    Isolated congenital lymphoedema of the external genitalia in boys is extremely rare. It can have major physical and emotional consequences for the children. Three male patients with primary lymphoedema of the penis and scrotum are described. The first case presented with lymphoedema of the prepuce

  11. Hydrocephalus-history of surgical treatment over the centuries

    Directory of Open Access Journals (Sweden)

    Milojević Aleksandar J.

    2012-01-01

    Full Text Available To trace the history of the treatment of hydrocephalus is to document the parallel development of medicine as a whole; when one reviews the treatment of hydrocephalus, the integral relationship between basic science and therapy is reaffirmed. The treatment of hydrocephalus, over the centuries, underwent three stages of evolution. Prior to the late 19 th century, treatment for 'water on the brain' involved more observation than intervention. During antiquity, middle ages and renaissance, hydrocephalus was not understood. Medical treatment was useless; surgery was hopeless. The second stage extends from the 19th century to the end of the first half of the 20 th century. Cerebrospinal fluid circulation was now understood; surgery however, remained inefficient, but some patients survived with arrested hydrocephalus. The third stage begins in the nineteen fifties with the development of silicone shunts with a valve. Surgery transforms the prognosis of hydrocephalus, but the number of post-operative complications creates new problems. The different attempts that have been made during these past two decades to solve these problems are reviewed. They have resulted in a reduction of the mechanical and infectious complications. CSF over drainage has been minimized. Percutaneous ventriculo-cisternostomies have in some cases replaced shunts. In the future, to improve outcome in these hydrocephalics, surgery, when indicated, should be performed as early as possible. Knowledge and prevention of the causes of hydrocephalus should be developed. As we progress further in this new millennium, it is appropriate to reflect on the past understanding and treatment of this disorder, review strategies to curb this disease process, and consider therapies and possibly cures that will be available in the future.

  12. Acute hydrocephalus in nonaneurysmal perimesencephalic hemorrhage: evidence of CSF block at the tentorial hiatus

    NARCIS (Netherlands)

    Rinkel, G. J.; Wijdicks, E. F.; Vermeulen, M.; Tans, J. T.; Hasan, D.; van Gijn, J.

    1992-01-01

    The acute hydrocephalus in patients with nonaneurysmal perimesencephalic hemorrhage suggests an extraventricular obstruction of CSF flow. We studied the occurrence of acute hydrocephalus and the site of cisternal blood in 40 consecutive patients with perimesencephalic hemorrhage. In all 11 patients

  13. The value of radionuclide cerebrospinal fluid scintigraphy in the diagnosis and treatment of patients with hydrocephalus

    International Nuclear Information System (INIS)

    Feng Fang; Wang Hui; Fu Hongliang; Li Jianing; Zou Renjian; Gu Zhenhui; Wu Jingchuan

    2009-01-01

    Objective: Radionuclide cerebrospinal fluid scintigraphy (RCFS) has been applied to make diagnosis of hydrocephalus clinically for a long time. This study aimed to evaluate clinical value of RCFS in guiding the management of patients with hydrocephalus. Methods: All 13 patients with hydrocephalus (8 adults, 5 children) underwent RCFS and CT/MRI examination before treatment and then follow-up imaging after treatment.Results: Four of 7 patients (6 adults, 1 child) diagnosed as obstructive hydrocephalus by RCFS underwent endoscopic third ventriculostomy (ETV), and 5 of 6 patients (2 adults, 4 children) diagnosed as obstructive hydrocephalus underwent ventriculo peritoneal shunt (VPS). All patients had good recovery after operation and favorable prognosis in follow-up for at least one year. Conclusion: RCFS could differentiate obstructive hydrocephalus from communicating hydrocephalus and had important guiding significance in the treatment of hydrocephalus. (authors)

  14. Circadian rhythm in idiopathic normal pressure hydrocephalus.

    Science.gov (United States)

    Eleftheriou, Andreas; Ulander, Martin; Lundin, Fredrik

    2018-01-01

    The pathogenesis of idiopathic normal pressure hydrocephalus (iNPH) takes place in structures close to the cerebral ventricular system. Suprachiasmatic nucleus (SCN), situated close to the third ventricle, is involved in circadian rhythm. Diurnal disturbances are well-known in demented patients. The cognitive decline in iNPH is potentially reversible after a shunt operation. Diurnal rhythm has never been studied in iNPH. We hypothesize that there is a disturbance of circadian rhythm in iNPH-patients and the aim was to study any changes of the diurnal rhythm (mesor and circadian period) as well as any changes of the diurnal amplitude and acrophase of the activity in iNPH-patients before and after a shunt operation. Twenty consecutive iNPH-patients fulfilling the criteria of the American iNPH-guidelines, 9 males and 11 females, mean age 73 (49-81) years were included. The patients underwent a pre-operative clinical work-up including 10m walk time (w10mt) steps (w10ms), TUG-time (TUGt) and steps (TUGs) and for cognitive function an MMSE score was measured. In order to receive circadian rhythm data actigraphic recordings were performed using the SenseWear 2 (BodyMedia Inc Pittsburgh, PA, USA) actigraph. Cosinor analyses of accelerometry data were performed in "R" using non-linear regression with Levenburg- Marquardt estimation. Pre- and post-operative data regarding mesor, amplitude and circadian period were compared using Wilcoxon-Mann-Whitney test for paired data. Twenty patients were evaluated before and three month post-operatively. Motor function (w10mt, w10ms, TUGt, TUGs) was significantly improved while MMSE was not significantly changed. Actigraphic measurements (mesor, amplitude and circadian period) showed no significant changes after shunt operation. This is the first systematic study of circadian rhythm in iNPH-patients. We found no significant changes in circadian rhythm after shunt surgery. The conceptual idea of diurnal rhythm changes in hydrocephalus is

  15. New concept of the pathogenesis and therapeutic orientation of acquired communicating hydrocephalus.

    Science.gov (United States)

    Xu, Hao

    2016-09-01

    Hydrocephalus is a common medical condition characterized by abnormalities in the secretion, circulation and absorption of cerebrospinal fluid (CSF), resulting in ventricle dilatation. For the communicating hydrocephalus, without etiological treatment, its pathogenesis has been considered as a research emphasis. Many factors can damage the CSF system and trigger communicating hydrocephalus, including tumor surgery and hydrocephalus neurological diseases, such as brain trauma, infection, ICH and SAH. But according to our clinical experience, a big proportion of patients do not develop hydrocephalus. That is because the absorbing ability of CSF can compensate within a certain range. If the damage exceeds that range, hydrocephalus will occur. Once it occurs, it is not likely to be reversed, so a shunt surgery is always needed. Therefore, we believe that our orientation could transform the treatment of patient who has already showed hydrocephalus symptoms to the prevention of the occurrence in the patient with high risk of hydrocephalus. Based on the hypothesis above, we first divide the process of hydrocephalus into three stages and we believe that hydrocephalus are possible be reversed or halted in stage 1 and 2. The new concept of the pathogenesis in hydrocephalus will enrich our understanding and provide new insights to the therapeutic orientation. In conclusion, the future research direction should be the prevention of hydrocephalus, which should take a long period from the immediate occurrence of brain injury to several months or even years after the injury.

  16. A Modified Shunt System for the Management of Pyogenic Hydrocephalus

    Directory of Open Access Journals (Sweden)

    Abdul Naveed Khan

    2017-01-01

    Full Text Available BACKGROUND: To describe the structure and efficacy of a modified cerebrospinal fluid (CSF shunt system with Bhatti CSF access chamber and ventriculoperitoneal shunt, for the management of hydrocephalus associated with pyogenic ventriculitis. METHODS: This was an observational study performed at the National Medical Center and Ziauddin Medical University, Karachi, Pakistan. Chemically bonded Bhatti CSF access chamber and ventriculoperitoneal shunt was inserted into 443 patients with hydrocephalus and pyogenic ventriculitis to allow injection of antibiotics into the lateral ventricles. RESULTS: In all patients, symptoms and signs of hydrocephalus were relieved immediately after shunt insertion and infection brought under control within two weeks of intraventricular injection of antibiotics (vancomycin or linezolid, via the CSF access chamber. In two patients peritoneal catheter was blocked by a precipitate of vancomycin. Reduction in the dose of intraventricular vancomycin from 50mg to 20mg and increased dilution (additional 2ml of 0.9% N/S solution prevented recurrence of this complication. All patients recovered from ventriculitis within two weeks of initiating this treatment. Follow-up was from 3 months to 2 years to monitor continued relief of hydrocephalus and absence of recurrence of ventriculitis. CONCLUSION: Bhatti CSF access chamber and the ventriculoperitoneal shunt is the only system available at present that fulfills the management of hydrocephalus associated with pyogenic ventriculitis. It provides continuous internal drainage of CSF combined with access to the ventricles for injection of antibiotics.

  17. Preventricular lucency in computerized tomography of various forms of hydrocephalus

    International Nuclear Information System (INIS)

    Sprung, C.

    1981-01-01

    602 patients with 8 different types of hydrocephalus have been examined for PVL on the basis of 18,413 CT pictures. The localisation of PVL, in the periventricular white matter of the auterior horns, and its configuration are independent of the type of hydrocephalus and of the intraventricular pressure. In contrast, the intensity and incidence of PVL are a function of the type of hydrocephalus. Factors influencing these two parameters are in order of importance: The intraventricular pressure, the acuteness of the process leading to stenosis (i.e. the rate of development of hydrocephalus), the extent of ventricular enlargement, the compliance of ventricular wall and osseous part of the skull, the volume of the ventricles, and the localisation of the obstructing and displacing process. Independent of the type of hydrocephalus, disappearance of PVL is always well correlated with improved clinical symptoms and, in most cases, also with a reduction of the ventricular volume. As far as the pathomechanism is concerned, the studies suggest passive inflow of liquor through the damaged ependyma rather than an active absorption process. (orig./MG) [de

  18. Pulsatile flow in ventricular catheters for hydrocephalus

    Science.gov (United States)

    Giménez, Á.; Galarza, M.; Thomale, U.; Schuhmann, M. U.; Valero, J.; Amigó, J. M.

    2017-05-01

    The obstruction of ventricular catheters (VCs) is a major problem in the standard treatment of hydrocephalus, the flow pattern of the cerebrospinal fluid (CSF) being one important factor thereof. As a first approach to this problem, some of the authors studied previously the CSF flow through VCs under time-independent boundary conditions by means of computational fluid dynamics in three-dimensional models. This allowed us to derive a few basic principles which led to designs with improved flow patterns regarding the obstruction problem. However, the flow of the CSF has actually a pulsatile nature because of the heart beating and blood flow. To address this fact, here we extend our previous computational study to models with oscillatory boundary conditions. The new results will be compared with the results for constant flows and discussed. It turns out that the corrections due to the pulsatility of the CSF are quantitatively small, which reinforces our previous findings and conclusions. This article is part of the themed issue `Mathematical methods in medicine: neuroscience, cardiology and pathology'.

  19. Congenital amusia.

    Science.gov (United States)

    Williamson, Victoria J; Stewart, Lauren

    2013-01-01

    For most people, music, like language, is acquired effortlessly in early life. But a few percent of the population have lifelong difficulties in the perception and production of music. In this chapter we discuss psycho-acoustic and behavioral studies that have attempted to delineate the nature of the auditory perceptual deficits in this group and consider whether these difficulties extend outside the musical domain. Finally, we review structural imaging studies in this group which point to subtle anomalies in temporal and frontal areas. We suggest that amusia can be considered a disorder of neural development, which has relatively specific consequences at the behavioral level. Studies of congenital amusia provide a unique window on the neurocognitive architecture of music processing. Copyright © 2013 Elsevier B.V. All rights reserved.

  20. Hydrocephalus in mice following X-irradiation at early gestational stage. Possibly due to persistent deceleration of cell proliferation

    International Nuclear Information System (INIS)

    Aolad, H.M.; Inouye, Minoru; Darmanto, W.; Hayasaka, Shizu; Murata, Yoshiharu

    2000-01-01

    The pathogenesis of X-ray-induced congenital hydrocephalus was studied. Pregnant mice were irradiated at 1.4 Gy on gestational day 7 (G7). Four hours after irradiation, extensive cell death was evident in the neuroepithelium and underlying mesoderm of the head region, and proliferating cell nuclear antigen (PCNA)-immunoreactive cells almost disappeared. Embryos with thinner lamina terminalis of the telecephalon, when compared with that of the control, were found in the irradiated group on G9. As early as G11 in some irradiated embryos the telencephalic wall was thinner and lateral ventricles were larger than those of the control. The choroid invagination from the lamina terminalis began on G11 in the control brain, but not in the affected brain. During the following development, fetuses with readily apparent hydrocephalus were consistently found among irradiated fetuses. In these brains the brain mantle was thinner, the corpus striatum and thalamic regions were smaller, and lateral ventricles were larger than those of the control. Even on G11 and G13 the frequencies of PCNA-positive cells in the brain mantle and other brain regions were lower in the hydrocephalic brain than those of the control, suggesting a decelerated proliferation of successive cell generations following exposure to X-rays. The cerebral aqueduct was open in the hydrocephalic brain during the fetal period when the lateral ventricles were dilated. The head was vaulted after birth but the cerebral aqueduct was not completely occluded even in these animals. These findings suggested that cell death in the neuroepithelium followed by a persistent deceleration of neural cell proliferation, resulting in the hypoplasia of brain parenchyma with compensatory ventricular dilatation, is important for the establishment of hydrocephalus. (author)

  1. Hydrocephalus in mice following X-irradiation at early gestational stage. Possibly due to persistent deceleration of cell proliferation

    Energy Technology Data Exchange (ETDEWEB)

    Aolad, H.M.; Inouye, Minoru; Darmanto, W.; Hayasaka, Shizu; Murata, Yoshiharu [Nagoya Univ. (Japan). Research Inst. of Environmental Medicine

    2000-09-01

    The pathogenesis of X-ray-induced congenital hydrocephalus was studied. Pregnant mice were irradiated at 1.4 Gy on gestational day 7 (G7). Four hours after irradiation, extensive cell death was evident in the neuroepithelium and underlying mesoderm of the head region, and proliferating cell nuclear antigen (PCNA)-immunoreactive cells almost disappeared. Embryos with thinner lamina terminalis of the telecephalon, when compared with that of the control, were found in the irradiated group on G9. As early as G11 in some irradiated embryos the telencephalic wall was thinner and lateral ventricles were larger than those of the control. The choroid invagination from the lamina terminalis began on G11 in the control brain, but not in the affected brain. During the following development, fetuses with readily apparent hydrocephalus were consistently found among irradiated fetuses. In these brains the brain mantle was thinner, the corpus striatum and thalamic regions were smaller, and lateral ventricles were larger than those of the control. Even on G11 and G13 the frequencies of PCNA-positive cells in the brain mantle and other brain regions were lower in the hydrocephalic brain than those of the control, suggesting a decelerated proliferation of successive cell generations following exposure to X-rays. The cerebral aqueduct was open in the hydrocephalic brain during the fetal period when the lateral ventricles were dilated. The head was vaulted after birth but the cerebral aqueduct was not completely occluded even in these animals. These findings suggested that cell death in the neuroepithelium followed by a persistent deceleration of neural cell proliferation, resulting in the hypoplasia of brain parenchyma with compensatory ventricular dilatation, is important for the establishment of hydrocephalus. (author)

  2. The Results of Neuroendoscopic Surgery in Patients with Posttraumatic and Posthemorrhagic Hydrocephalus.

    Science.gov (United States)

    Chrastina, Jan; Novák, Zdeněk; Zeman, Tomáš; Feitová, Věra; Hrabovský, Dušan; Říha, Ivo

    2018-05-01

    Posttraumatic hydrocephalus (PTH) and posthemorrhagic hydrocephalus (PHH) were previously considered not suitable for neuroendoscopic treatment. New hydrocephalus theories support possible successful neuroendoscopy in such patients. This study presents the results of neuroendoscopy in PTH and PHH with a background analysis. From 130 hydrocephalic patients after neuroendoscopic surgeries, 35 cases with PTH (n = 11) or PHH (n = 24; acute: n = 9, subacute: n = 10, chronic: n = 5) were found. The success rate (Glasgow Outcome Scale [GOS] score 4 or 5 without shunt) and clinical outcome (GOS score) of endoscopic third ventriculostomy (ETV) were analyzed. During the study period, 34 patients had ventriculoperitoneal shunts implanted, including 2 PTH and 5 PHH patients (all chronic). The success rate of ETV in PTH was 54.5%. In acute PHH, the success rate was 33.3%, 42.8% after excluding devastating hematomas. A post-ETV shunt was implanted in 1 patient (massive subarachnoid hemorrhage [SAH]) with final GOS score of 5. In subacute cases, the ETV success rate was 40% (no post-ETV shunts). In chronic PHH, only 1 patient with a GOS score of 5 was shunt-free (20%). The cause of ETV failure was massive SAH. Low final GOS score was caused by the extent of intracerebral bleeding or extracranial problems. The main indications for primary shunt implantation in PTH and PHH were infectious complications. The rate of good outcomes was 0% in PTH and 40% in PHH. The best results of neuroendoscopy were achieved in PTH and acute PHH. ETV failures were associated with massive SAH; arachnoid cistern blockage and scarring precludes ETV success. Copyright © 2018 Elsevier Inc. All rights reserved.

  3. Secondary pediatric encephalocele after ventriculosubgaleal shunting for posthemorrhagic hydrocephalus.

    Science.gov (United States)

    Seeburg, Daniel; Ahn, Edward; Huisman, Thierry

    2014-08-01

    Intraventricular hemorrhage and posthemorrhagic hydrocephalus continue to be common complications in very low-birth-weight premature infants, often requiring ventricular shunting for cerebrospinal fluid diversion. We report on two infants with posthemorrhagic hydrocephalus that developed a secondary encephalocele after ventriculosubgaleal shunting. Encephaloceles can act as a source of seizure activity and can result in various additional complications including meningitis, abscess formation, and infarction of herniated brain parenchyma. With continued improvements in neonatal intensive care, the survival of infants with significant medical comorbidities-including those that develop posthemorrhagic hydrocephalus requiring ventricular shunting-continues to increase. It is thus important for the radiologist and treating physician to be aware of this rare, potential complication. Georg Thieme Verlag KG Stuttgart · New York.

  4. Alexander Monro Tertius and his works on hydrocephalus.

    Science.gov (United States)

    Tubbs, R Shane; Tubbs, Isaiah; Loukas, Marios; Oakes, W Jerry

    2015-03-01

    The Monros of the University of Edinburgh reigned over anatomy instruction for over a century. The last of these men, Monro Tertius, was the weaker teacher of the family but still contributed to the anatomical and surgical literature. Herein, we describe the life of Alexander Monro Tertius and his writings, particularly on childhood hydrocephalus. Monro Tertius will not be remembered as a great anatomist or teacher. However, he collected and published important books on his observations and those of others on hydrocephalus. These texts contained the knowledge of his era on this topic.

  5. Vascular factors in suspected normal pressure hydrocephalus

    Science.gov (United States)

    Agerskov, Simon; Rabiei, Katrin; Marlow, Thomas; Jensen, Christer; Guo, Xinxin; Kern, Silke; Wikkelsø, Carsten; Skoog, Ingmar

    2016-01-01

    Objective: We examined clinical and imaging findings of suspected idiopathic normal pressure hydrocephalus (iNPH) in relation to vascular risk factors and white matter lesions (WMLs), using a nested case-control design in a representative, population-based sample. Methods: From a population-based sample, 1,235 persons aged 70 years or older were examined with CT of the brain between 1986 and 2000. We identified 55 persons with hydrocephalic ventricular enlargement, i.e., radiologic findings consistent with iNPH. Among these, 26 had clinical signs that fulfilled international guideline criteria for probable iNPH. These cases were labeled suspected iNPH. Each case was matched to 5 controls from the same sample, based on age, sex, and study cohort. Data on risk factors were obtained from clinical examinations and the Swedish Hospital Discharge Register. History of hypertension, diabetes mellitus (DM), smoking, overweight, history of coronary artery disease, stroke/TIA, and WMLs on CT were examined. Risk factors associated with iNPH with a p value <0.1 in χ2 tests were included in conditional logistic regression models. Results: In the regression analyses, suspected iNPH was related to moderate to severe WMLs (odds ratio [OR] 5.2; 95% confidence interval [CI]: 1.5–17.6), while hydrocephalic ventricular enlargement was related to hypertension (OR 2.7; 95% CI: 1.1–6.8), moderate to severe WMLs (OR 6.5; 95% CI: 2.1–20.3), and DM (OR 4.3; 95% CI: 1.1–16.3). Conclusions: Hypertension, WMLs, and DM were related to clinical and imaging features of iNPH, suggesting that vascular mechanisms are involved in the pathophysiology. These findings might have implications for understanding disease mechanisms in iNPH and possibly prevention. PMID:26773072

  6. Factors Associated with Acute and Chronic Hydrocephalus in Nonaneurysmal Subarachnoid Hemorrhage.

    Science.gov (United States)

    Kang, Peter; Raya, Amanda; Zipfel, Gregory J; Dhar, Rajat

    2016-02-01

    Hydrocephalus requiring external ventricular drain (EVD) or shunt placement commonly complicates aneurysmal subarachnoid hemorrhage (SAH), but its frequency is not as well known for nonaneurysmal SAH (NA-SAH). Those with diffuse bleeding may have greater risk of hydrocephalus compared to those with a perimesencephalic pattern. We evaluated the frequency of hydrocephalus in NA-SAH and whether imaging factors could predict the need for EVD and shunting. We collected admission clinical and imaging variables for 105 NA-SAH patients, including bicaudate index (BI), Hijdra sum score (HSS), intraventricular hemorrhage (IVH) score, modified Fisher scale (mFS), and bleeding pattern. Hydrocephalus was categorized as acute (need for EVD) or chronic (shunt). We applied logistic regression to determine whether hydrocephalus risk was independently related to bleeding pattern or mediated through blood volume or ventriculomegaly. Acute hydrocephalus was seen in 26 (25%) patients but was more common with diffuse (15/28, 54%) versus perimesencephalic (10/59, 17%, p hydrocephalus had worse clinical grade and higher BI, HSS, and IVH scores. Adjusting the relationship between hydrocephalus and diffuse bleeding for HSS (but not BI) nullified this association. Nine (35%) patients requiring EVD eventually required shunting for chronic hydrocephalus, which was associated with greater blood burden but not poor clinical grade. Acute hydrocephalus occurs in one-quarter of NA-SAH patients. The greater risk in diffuse bleeding appears to be mediated by greater cisternal blood volume but not by greater ventriculomegaly. Imaging characteristics may aid in anticipatory management of hydrocephalus in NA-SAH.

  7. A unifying hypothesis for hydrocephalus, Chiari malformation, syringomyelia, anencephaly and spina bifida

    Directory of Open Access Journals (Sweden)

    Williams Helen

    2008-04-01

    Full Text Available Abstract This work is a modified version of the Casey Holter Memorial prize essay presented to the Society for Research into Hydrocephalus and Spina Bifida, June 29th 2007, Heidelberg, Germany. It describes the origin and consequences of the Chiari malformation, and proposes that hydrocephalus is caused by inadequate central nervous system (CNS venous drainage. A new hypothesis regarding the pathogenesis, anencephaly and spina bifida is described. Any volume increase in the central nervous system can increase venous pressure. This occurs because veins are compressible and a CNS volume increase may result in reduced venous blood flow. This has the potential to cause progressive increase in cerebrospinal fluid (CSF volume. Venous insufficiency may be caused by any disease that reduces space for venous volume. The flow of CSF has a beneficial effect on venous drainage. In health it moderates central nervous system pressure by moving between the head and spine. Conversely, obstruction to CSF flow causes localised pressure increases, which have an adverse effect on venous drainage. The Chiari malformation is associated with hindbrain herniation, which may be caused by low spinal pressure relative to cranial pressure. In these instances, there are hindbrain-related symptoms caused by cerebellar and brainstem compression. When spinal injury occurs as a result of a Chiari malformation, the primary pathology is posterior fossa hypoplasia, resulting in raised spinal pressure. The small posterior fossa prevents the flow of CSF from the spine to the head as blood enters the central nervous system during movement. Consequently, intermittent increases in spinal pressure caused by movement, result in injury to the spinal cord. It is proposed that posterior fossa hypoplasia, which has origins in fetal life, causes syringomyelia after birth and leads to damage to the spinal cord in spina bifida. It is proposed that hydrocephalus may occur as a result of

  8. Communicating hydrocephalus due to cerebral venous sinus thrombosis treated with ventriculoperitoneal shunt

    Directory of Open Access Journals (Sweden)

    Rahul T Chakor

    2012-01-01

    Full Text Available Cerebral venous sinus thrombosis (CVT is a rare cerebrovascular disease with variable presentation. CVT rarely causes hydrocephalus. Communicating hydrocephalus due to CVT is extremely rare. We describe a patient of CVT presenting with chronic headache and communicating hydrocephalus. The patient was successfully treated with ventriculoperitoneal (VP shunt. A 40 year old man presented with moderate to severe headache since six months and progressive visual loss since two months. Head Computed tomogram showed mild hydrocephalus without obstruction. Lumbar puncture (LP demonstrated elevated pressure but was otherwise normal. Magnetic resonance venogram showed extensive CVT. Repeated CSF drainage and thecoperitoneal shunt did not relieve the severe headache hence a VP shunt was placed. Post shunt headache subsided with resolution of hydrocephalus. CVT can present as communicating hydrocephalus. Gradual reduction of intra-ventricular pressure by repeated LPs followed by VP shunt can safely treat hydrocephalus due to CVT.

  9. Importância da avaliação genético-clínica na hidrocefalia Importance of the clinical genetics evaluation on hydrocephalus

    Directory of Open Access Journals (Sweden)

    Marta Wey-Vieira

    2004-06-01

    Full Text Available Os objetivos deste estudo foram caracterizar a presença de possíveis quadros de etiologia genética entre portadores de hidrocefalia congênita de etiologia não anteriormente esclarecida e confirmar aqueles com etiologia identificada previamente. A casuística compôs-se de 16 pacientes portadores de hidrocefalia congênita. O protocolo de investigação incluiu anamnese, investigação de história familial, exame clínico-dismorfológico, tomografia computadorizada ou ressonância magnética de sistema nervoso central, radiografia vertebral simples, cariótipo e estudo dismorfológico. Para análise dos resultados, a casuística foi dividida em dois grupos. O Grupo I (3M:6F caracterizado por indivíduos com hidrocefalia e sinais clínicos inespecíficos; o Grupo II (7M, em que os indivíduos apresentavam hidrocefalia congênita e sinais sugestivos do espectro da doença L1. Orientação genética específica foi possível em 11 casos. Os resultados demonstram a heterogeneidade etiológica envolvida na hidrocefalia, evidenciando a necessidade de avaliação clínico-dismorfológica como instrumento complementar na investigação dessa condição clínica.The aim of this study was to characterize the possibility of genetic etiology in a group of individuals with congenital hydrocephalus in which the etiology was indeterminate and to confirm that earlier diagnosed. The casuistry was composed by 16 individuals with congenital hydrocephalus. Investigation protocol included anamnesis, familial investigation, physical examination, computerized tomography or magnetic resonance image of head, vertebral column X-ray, karyotype and dysmorphological study. Results were analyzed in two groups. In Group I (3M:9F was composed by hydrocephalus associated with unspecific signs. Group II (7 males had findings of epectrum of L1 disease. Genetic counseling could be offered in 11 cases. These results demonstrate the great etiological heterogeneity of congenital

  10. Technology preferences among caregivers of children with hydrocephalus.

    Science.gov (United States)

    Naftel, Robert P; Safiano, Nicole A; Falola, Michael I; Shannon, Chevis N; Wellons, John C; Johnston, James M

    2013-01-01

    The Internet and social media are powerful disseminators of medical information, providing new portals for patient care. The authors of this study evaluated current technology hardware, Internet, and social media use and their socioeconomic relationships among caregivers of children with hydrocephalus. A written survey was completed in the neurosurgical clinics at the University of Alabama at Birmingham by 300 parents of children with shunted hydrocephalus between October 26, 2010, and July 26, 2011. Computer use (94.6%), Internet use (91.7%), smartphone use (56.9%), and Internet research on hydrocephalus (81.9%) were prevalent. However, for each of these four utilizations there was significantly lower access by caregivers of minority races (p = 0.04, 0.03, 0.002, and children with similar conditions. Technology hardware, the Internet, and social media are widely used with some skepticism by parents of children with shunted hydrocephalus. Caregivers are interested in physician-recommended Internet resources. Socioeconomic factors including race, income, and level of education reveal a disparity in access to some of these resources, although all groups have relatively high use. Unlike typical technology use, social media use is breaking down the digital divide among ethnic and socioeconomic groups.

  11. Prevalence of neural tube defect and hydrocephalus in Northern ...

    African Journals Online (AJOL)

    All the cases reported in this study were open neural tube defect (NTD). The most common defect was hydrocephalus occurring in 33 patients representing 57.9%, with spinal bifida occurring in 21 patients representing 38.6%. Encephalocele or cranium bifida occurred in only 5.3% (3 patients). Among the spinal bifida cases ...

  12. Acute infarction of corpus callosum due to transient obstructive hydrocephalus.

    Science.gov (United States)

    Kaymakamzade, Bahar; Eker, Amber

    2016-01-01

    Acute ischemia of the corpus callosum (CC) is not a well-known feature in patients with acute hydrocephalus. Herein, we describe a case with acute CC infarction due to another rare entity; transient obstructive hydrocephalus. A 66-year-old male was admitted with sudden onset right-sided hemiparesia. CT demonstrated a hematoma on the left basal ganglia with extension to all ventricles. The following day, the patient's neurological status progressed to coma and developed bilateral pyramidal signs. MRI demonstrated obstructive hydrocephalus and acute diffuse infarction accompanied by elevation of the CC. On the same day there was improvement in his neurological status with significant decrease in ventricular size and complete resolution of the clot in the third ventricle. The mechanism of signal abnormalities is probably related with the neural compression of the CC against the falx. Presumably, the clot causing obstruction in the third ventricle dissolved or decayed by the help of fibrinolytic activity of CSF, which was raised after IVH and caused spontaneous improvement of hydrocephalus. Bilateral neurological symptoms suggest diffuse axonal damage and normalization of the intracranial pressure should be performed on the early onset of clinical detorioration in order to prevent axonal injury. Copyright © 2016 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

  13. Nonverbal Learning Disability Explained: The Link to Shunted Hydrocephalus

    Science.gov (United States)

    Rissman, Barbara

    2011-01-01

    A nonverbal learning disability is believed to be caused by damage, disorder or destruction of neuronal white matter in the brain's right hemisphere and may be seen in persons experiencing a wide range of neurological diseases such as hydrocephalus and other types of brain injury (Harnadek & Rourke 1994). This article probes the relationship…

  14. Everolimus Alleviates Obstructive Hydrocephalus due to Subependymal Giant Cell Astrocytomas.

    Science.gov (United States)

    Moavero, Romina; Carai, Andrea; Mastronuzzi, Angela; Marciano, Sara; Graziola, Federica; Vigevano, Federico; Curatolo, Paolo

    2017-03-01

    Subependymal giant cell astrocytomas (SEGAs) are low-grade tumors affecting up to 20% of patients with tuberous sclerosis complex (TSC). Early neurosurgical resection has been the only standard treatment until few years ago when a better understanding of the molecular pathogenesis of TSC led to the use of mammalian target of rapamycin (mTOR) inhibitors. Surgical resection of SEGAs is still considered as the first line treatment in individuals with symptomatic hydrocephalus and intratumoral hemorrhage. We describe four patients with symptomatic or asymptomatic hydrocephalus who were successfully treated with the mTOR inhibitor everolimus. We collected the clinical data of four consecutive patients presenting with symptomatic or asymptomatic hydrocephalus due to a growth of subependymal giant cell atrocytomas and who could not undergo surgery for different reasons. All patients experienced a clinically significant response to everolimus and an early shrinkage of the SEGA with improvement in ventricular dilatation. Everolimus was well tolerated by all individuals. Our clinical series demonstrate a possible expanding indication for mTOR inhibition in TSC, which can be considered in patients with asymptomatic hydrocephalus or even when the symptoms already appeared. It offers a significant therapeutic alternative to individuals that once would have undergone immediate surgery. Everolimus might also allow postponement of a neurosurgical resection, making it elective with an overall lower risk. Copyright © 2016 Elsevier Inc. All rights reserved.

  15. Complication during Postacute Rehabilitation: Patients with Posttraumatic Hydrocephalus

    Science.gov (United States)

    Denes, Zoltan; Barsi, Peter; Szel, Istvan; Boros, Erzsebet; Fazekas, Gabor

    2011-01-01

    The objective of this study was to determine the incidence of posttraumatic hydrocephalus (PTH) among patients in our rehabilitation unit for traumatic brain injury. Furthermore, we aimed to assess the effect of shunt implantation and to identify the postoperative complication rate. This is a retrospective cohort study, in which between 2000 and…

  16. Latex allergy in an infant with acquired hydrocephalus | Ehiozw ...

    African Journals Online (AJOL)

    We report the case of a 3 month old male infant with acquired hydrocephalus undergoing ventriculo-peritoneal shunt insertion who developed wheals and suffered a respiratory arrest following contact with latex gloves. The need for anaesthetists to effectively diagnose and properly manage this rare clinical entity is ...

  17. ["Water Hammer effect": a rare mechanism of hydrocephalus].

    Science.gov (United States)

    Hage, P; El Helou, A

    2012-10-01

    We are reporting a case of functional hydrocephalus in a 66-year-old male patient presenting for gait disturbance. The etiology of the disease is a cerebrospinal fluid flow disturbance due to an ectatic basilar artery at the level of Monro foramen. Different pathophysiological mechanisms are discussed below. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  18. Congenital nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Claudia Fanni

    2014-06-01

    Full Text Available CNS (Congenital nephrotic syndrome is a disorder characterized by the presence of a nephrotic syndrome in the first three months of life. Different pathologies can cause this syndrome. In general, we can distinguish primary forms (sporadic and hereditary and secondary forms (acquired and associated with other syndromes. The most common form is the Finnish CNS (CNF, congenital nephrotic syndrome of the Finnish type, a hereditary form whose name derives from the fact that the highest incidence is described in that country (1.2:10,000. The pathogenesis, the clinical picture, the diagnostic criteria, the therapy and the outcome are described in details.  Proceedings of the International Course on Perinatal Pathology (part of the 10th International Workshop on Neonatology · October 22nd-25th, 2014 · Cagliari (Italy · October 25th, 2014 · The role of the clinical pathological dialogue in problem solving Guest Editors: Gavino Faa, Vassilios Fanos, Peter Van Eyken

  19. Congenital platelet function defects

    Science.gov (United States)

    ... pool disorder; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital ... Congenital platelet function defects are bleeding disorders that cause reduced platelet function. Most of the time, people with these disorders have ...

  20. Congenital Heart Information Network

    Science.gov (United States)

    ... heart defects. Important Notice The Congenital Heart Information Network website is temporarily out of service. Please join ... and Uwe Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright © ...

  1. Congenital heart disease

    Science.gov (United States)

    Congenital heart disease (CHD) is a problem with the heart's structure and function that is present at birth. ... Fraser CD, Kane LC. Congenital heart disease. In: Townsend CM Jr, ... Sabiston Textbook of Surgery: The Biological Basis of Modern ...

  2. Ventriculosubgaleal shunts for posthemorrhagic hydrocephalus in premature infants.

    Science.gov (United States)

    Willis, Brian K; Kumar, Cherukuri Ravi; Wylen, Esther L; Nanda, Anil

    2005-01-01

    The early management of posthemorrhagic hydrocephalus in premature infants is challenging and controversial. These infants need a temporary cerebrospinal fluid (CSF) diversion procedure until they gain adequate weight, and the blood and protein levels in CSF are reasonably low before permanent shunt can be placed. Various options are available with their associated advantages and disadvantages. Ventriculosubgaleal shunts have been recommended as a more physiologic and less invasive means of achieving this goal. We have performed this procedure in 6 premature infants to evaluate their effectiveness and complications. Six consecutive premature infants with posthemorrhagic hydrocephalus underwent placement of ventriculosubgaleal shunts over a 1-year period of time. We reviewed their clinical and imaging progress to assess the ability of the shunt to control hydrocephalus and the complication rates. In all 6 patients, the ventriculosubgaleal shunt controlled the progression of hydrocephalus as assessed by clinical and imaging parameters. A permanent shunt was avoided in 1 patient (16.6%). However, 4 patients developed shunt infections, 1 involving the ventriculosubgaleal shunt itself, and 3 immediately after conversion to ventriculoperitoneal shunt. The total infection rate of the series was 66.6%. All infections were caused by staphylococcus species. There was only a 1% shunt infection rate in our institution for all nonventriculosubgaleal shunts during the same period of time. Placement of ventriculosubgaleal shunts for interim CSF diversion in neonates with posthemorrhagic hydrocephalus is effective as a temporary method of CSF diversion. However, our experience has shown that it is associated with a unacceptably high CSF infection rate. A potential cause for infection is CSF stasis just beneath the extremely thin skin of the premature infants, promoting colonization by skin flora. CSF sampling before conversion to a permanent shunt and replacement of the proximal

  3. Pathophysiological study of experimental hydrocephalus with computed tomography (CT) scan

    International Nuclear Information System (INIS)

    Murata, Takaho

    1980-01-01

    In order to investigate the pathophysiological changes during a development of hydrocephalus, the observations employing computed tomography (CT) scans and monitorings of intracranial epidural pressure (EDP) were performed in a series of kaolin-induced canine hydrocephalus. According to ''volume index'' of ventricles which was calculated from printed-out CT numbers, great individual variations were recognized in the degree of a ventricular enlargement as well as the rate of EDP. They are thought to be due to the difference in types of hydrocephalus, which have been induced by a discrepancy in the site and degree of an obstruction caused by kaolin. Periventricular lucency (PVL) of various degrees were also detected on CT scans of experimental hydrocephalus. It was always marked in the superolateral angle of frontal horn of the lateral ventricles, and differed in degree from severe to mild. PVLs were distinct in the acute stage with high EDP, and gradually became indistinct and had a tendency to disappear thereafter along with decreased EDP. They immediately disappeared after shunting operation. The pathogenesis of PVL was investigated with histological examinations, as well as by using contrast enhancement, Metrizamide ventriculography, the analysis of linear density profiles, and the measurement of regional cerebral blood flow (rCBF). Consequently, PVLs in hydrocephalus are considered to represent an acute edema or a chronic CSF retention in the periventricular white matter caused by increase of water content. In other words, they are regarded as a sign of present or preceding intraventricular hypertension on CT scan, and may become a clinical indication for shunting operation. (author)

  4. Twelve-year prevalence of common neonatal congenital malformations in Zhejiang Province, China.

    Science.gov (United States)

    Sun, Ge; Xu, Zhe-Ming; Liang, Jian-Feng; Li, Lin; Tang, Da-Xing

    2011-11-01

    One of the challenges that pediatricians face when examining birth defects is to understand the trends in its occurrence and provide clues to etiology. This study was undertaken to retrospectively assess the prevalence of 10 common neonatal congenital malformations by reviewing a database of all deliveries from 28 weeks up until 7 days of birth from January 1998 to December 2009 in Zhejiang Province, China. Ten common neonatal congenital malformations were selected for analysis. The incidence and the Cochran-Armitage Trend were assessed via SAS9.2. A P value ≤0.05 was considered statistically significant. Of 83 888 perinatals, 374 (4.46‰) suffered from congenital heart diseases (CHD), 77 (0.92‰) from congenital hydrocephalus, 32 (0.38‰) from intestinal atresia/stenosis, 36 (0.43‰) from anorectal malformations, 149 (1.78‰) from kidney malformations, 139 (3.31‰) from hypospadias (male), 178 (2.12‰) from orofacial clefts (OFC), 188 (2.24‰) from polydactyly, 62 (0.74‰) from syndactyly, and 269 (3.21‰) from accessory auricle anomaly. Their trend of prevalence varied as follows: CHD, P=0.0026; hydrocephalus, P=0.0042; intestinal atresia/stenosis, P=0.0103; anorectal malformations, P=0.4332; kidney malformations, Pmalformations (Pmalformations (P=0.4332), polydactyly (P=0.0867) and syndactyly (P=0.1941). The incidences of CHD, intestinal atresia/stenosis, kidney malformations, hypospadias, OFC, and accessory auricle anomaly have increased in the last 12 years, but the incidences of anorectal malformations, polydactyly and syndactyly remain stable. The incidence of hydrocephalus shows a downward trend.

  5. Congenital Intrahepatic Portosystemic Shunts

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Woong Hee; Kim, Young Tong; Jou, Sung Shick; Shin, Hyeong Cheol [Soonchunhyang University, Asan (Korea, Republic of)

    2008-12-15

    Intrahepatic portosystemic shunts are an anomalous connection between the portal vein and hepatic vein/IVC, which may be either congenital or acquired secondary to liver cirrhosis or portal hypertension. Cases of congenital intrahepatic shunts are usually encountered in children and may spontaneously resolve. We report 5 cases of congenital intrahepatic portosystemic shunts in neonates and an adult

  6. Predictors and outcomes of shunt-dependent hydrocephalus in patients with aneurysmal sub-arachnoid hemorrhage

    Science.gov (United States)

    2012-01-01

    Background Hydrocephalus following spontaneous aneurysmal sub-arachnoid hemorrhage (SAH) is often associated with unfavorable outcome. This study aimed to determine the potential risk factors and outcomes of shunt-dependent hydrocephalus in aneurysmal SAH patients but without hydrocephalus upon arrival at the hospital. Methods One hundred and sixty-eight aneurysmal SAH patients were evaluated. Using functional scores, those without hydrocephalus upon arrival at the hospital were compared to those already with hydrocephalus on admission, those who developed it during hospitalization, and those who did not develop it throughout their hospital stay. The Glasgow Coma Score, modified Fisher SAH grade, and World Federation of Neurosurgical Societies grade were determined at the emergency room. Therapeutic outcomes immediately after discharge and 18 months after were assessed using the Glasgow Outcome Score. Results Hydrocephalus accounted for 61.9% (104/168) of all episodes, including 82 with initial hydrocephalus on admission and 22 with subsequent hydrocephalus. Both the presence of intra-ventricular hemorrhage on admission and post-operative intra-cerebral hemorrhage were independently associated with shunt-dependent hydrocephalus in patients without hydrocephalus on admission. After a minimum 1.5 years of follow-up, the mean Glasgow outcome score was 3.33 ± 1.40 for patients with shunt-dependent hydrocephalus and 4.21 ± 1.19 for those without. Conclusions The presence of intra-ventricular hemorrhage, lower mean Glasgow Coma Scale score, and higher mean scores of the modified Fisher SAH and World Federation of Neurosurgical grading on admission imply risk of shunt-dependent hydrocephalus in patients without initial hydrocephalus. These patients have worse short- and long-term outcomes and longer hospitalization. PMID:22765765

  7. Hydrocephalus caused by unilateral foramen of Monro obstruction: A review on terminology

    Science.gov (United States)

    Nigri, Flavio; Gobbi, Gabriel Neffa; da Costa Ferreira Pinto, Pedro Henrique; Simões, Elington Lannes; Caparelli-Daquer, Egas Moniz

    2016-01-01

    Background: Hydrocephalus caused by unilateral foramen of Monro (FM) obstruction has been referred to in literature by many different terminologies. Precise terminology describing hydrocephalus confined to just one lateral ventricle has a very important prognostic value and determines whether or not the patient can be shunt free after an endoscopic procedure. Methods: Aiming to define the best term for unilateral FM obstruction, 19 terms were employed on PubMed database (http://www.ncbi.nlm.nih.gov/pubmed) as quoted phrases. Results: A total of 194 articles were found. Four patterns of hydrocephalus were discriminated as a result of our research term query and were divided by types for didactic purpose. Type A - partial dilation of the lateral ventricle; Type B - pure unilateral obstruction of the FM; Type C - previously shunted patients with secondary obstruction of the FM; and Type D - asymmetric lateral ventricles with patent FM. Conclusion: In unilateral FM obstruction hydrocephalus, an in-depth review on terminology application is critical to avoid mistakes that may compromise comparisons among different series. This terminology review suggests that Type B hydrocephalus, i.e., the hydrocephalus confined to just one lateral ventricle with no other sites of cerebrospinal fluid circulation blockage, are best described by the terms unilateral hydrocephalus (UH) and monoventricular hydrocephalus, the first being by far the most popular. Type A hydrocephalus is best represented in the literature by the terms uniloculated hydrocephalus and loculated ventricle; Type C hydrocephalus by the terms isolated lateral ventricle and isolated UH; and Type D hydrocephalus by the term asymmetric hydrocephalus. PMID:27274402

  8. Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients

    Energy Technology Data Exchange (ETDEWEB)

    Mercier, B.; Verlingue, C.; Audrezet, M.P.; Ferec, C. [Centre de Biogenetique C.D.T.S., Brest (France); Lissens, W.; Bonduelle, M. [University Hospital VUB, Brussels (United Kingdom); Silber, S.J. [St. Luke`s Hospital, St. Louis, MO (United States); Novelli, G. [Catholic Univ. of Rome (Italy)

    1995-01-01

    Congenital bilateral absence of the vas deferens (CBAVD) is an important cause of sterility in men. Although the genetic basis of this condition is still unclear, it has been shown recently that some of these patients carry mutations in their cystic fibrosis transmembrane conductance regulator (CFTR) genes. To extend this observation, we have analyzed the entire coding sequence of the CFTR gene in a cohort of 67 men with CBAVD, who are otherwise healthy. We have identified four novel missense mutations (A800G, G149R, R258G, and E193K). We have shown that 42% of subjects were carriers of one CFTR allele and that 24% are compound heterozygous for CFTR alleles. Thus, we have been unable to identify 76% of these patients as carrying two CFTR mutations. Furthermore, we have described the segregation of CFTR haplotypes in the family of one CBAVD male; in this family are two male siblings, with identical CFTR loci but displaying different phenotypes, one of them being fertile and the other sterile. The data presented in this family, indicating a discordance between the CBAVD phenotype and a marked carrier ({delta}F508) chromosome, support the involvement of another gene(s), in the etiology of CBAVD. 35 refs., 2 figs., 1 tab.

  9. Comparison of CSF Distribution between Idiopathic Normal Pressure Hydrocephalus and Alzheimer Disease.

    Science.gov (United States)

    Yamada, S; Ishikawa, M; Yamamoto, K

    2016-07-01

    CSF volumes in the basal cistern and Sylvian fissure are increased in both idiopathic normal pressure hydrocephalus and Alzheimer disease, though the differences in these volumes in idiopathic normal pressure hydrocephalus and Alzheimer disease have not been well-described. Using CSF segmentation and volume quantification, we compared the distribution of CSF in idiopathic normal pressure hydrocephalus and Alzheimer disease. CSF volumes were extracted from T2-weighted 3D spin-echo sequences on 3T MR imaging and quantified semi-automatically. We compared the volumes and ratios of the ventricles and subarachnoid spaces after classification in 30 patients diagnosed with idiopathic normal pressure hydrocephalus, 10 with concurrent idiopathic normal pressure hydrocephalus and Alzheimer disease, 18 with Alzheimer disease, and 26 control subjects 60 years of age or older. Brain to ventricle ratios at the anterior and posterior commissure levels and 3D volumetric convexity cistern to ventricle ratios were useful indices for the differential diagnosis of idiopathic normal pressure hydrocephalus or idiopathic normal pressure hydrocephalus with Alzheimer disease from Alzheimer disease, similar to the z-Evans index and callosal angle. The most distinctive characteristics of the CSF distribution in idiopathic normal pressure hydrocephalus were small convexity subarachnoid spaces and the large volume of the basal cistern and Sylvian fissure. The distribution of the subarachnoid spaces in the idiopathic normal pressure hydrocephalus with Alzheimer disease group was the most deformed among these 3 groups, though the mean ventricular volume of the idiopathic normal pressure hydrocephalus with Alzheimer disease group was intermediate between that of the idiopathic normal pressure hydrocephalus and Alzheimer disease groups. The z-axial expansion of the lateral ventricle and compression of the brain just above the ventricle were the common findings in the parameters for differentiating

  10. Investigation of hydrocephalus with three-dimensional constructive interference in steady state MRI

    International Nuclear Information System (INIS)

    Kurihara, N.; National Sendai Hospital; Takahashi, S.; Higano, S.; Furuta, S.; Umetsu, A.; Tamura, H.; Research Inst. of Brain and Blood Vessels, Akita; Jokura, H.

    2000-01-01

    We report four patients with various types of hydrocephalus in whom constructive interference in steady state (CISS) MRI disclosed the cause of the hydrocephalus. The imaging clearly delineated an abnormal contour of the ventricular system and intraventricular septa, essential information for surgical planning, including endoscopic surgery. Postoperative CISS images were useful for showing not only regression of hydrocephalus but also the patency of small fenestrations. (orig.)

  11. Diagnosis and differential diagnosis of hydrocephalus in adults; Diagnostik und Differenzialdiagnostik des Hydrozephalus beim Erwachsenen

    Energy Technology Data Exchange (ETDEWEB)

    Langner, Soenke; Mensel, Birger; Kuehn, Jens Peter; Kirsch, Michael [Univ. Medicine Greifswald (Germany). Inst. for Diagnostic Radiology and Neuroradiology; Fleck, Steffen; Baldauf, Joerg [Univ. Medicine Greifswald (Germany). Dept. of Neurosurgery

    2017-08-15

    Hydrocephalus is caused by an imbalance of production and absorption of cerebrospinal fluid (CSF) or obstruction of its pathways, resulting in ventricular dilatation and increased intracranial pressure. Imaging plays a crucial role in the diagnosis, differential diagnosis and planning of treatment. This review article presents the different types of hydrocephalus und their typical imaging appearance, describes imaging techniques, and discusses differential diagnoses of the different forms of hydrocephalus. Imaging plays a central role in the diagnosis of hydrocephalus. While magnetic resonance (MR) imaging is the first-line imaging modality, computed tomography (CT) is often the first-line imaging test in emergency patients.

  12. Demonstration of uneven distribution of intracranial pulsatility in hydrocephalus patients.

    Science.gov (United States)

    Eide, Per K

    2008-11-01

    Data from intracranial pressure (ICP) recordings in patients with hydrocephalus were reviewed to determine whether intracranial pulsatility within the cerebrospinal fluid (CSF) of cerebral ventricles (ICP(LV)) may differ from that within the brain parenchyma (ICP(PAR)), and whether pulsatility may differ between noncommunicating ventricles. The authors retrieved data from recordings previously obtained in 7 patients with hydrocephalus (noncommunicating in 4 and communicating in 3) and shunt failure who received both an external ventricular drainage (EVD) and an ICP sensor as part of surveillance during intensive care. Simultaneous ICP(LV) and ICP(PAR) signals were available in 6 cases, and simultaneous signals from the lateral and fourth ventricles (ICP(LV) and ICP4V, respectively) were recorded in 1 case. The recordings with both signals were parsed into 6-second time windows. Pulsatility was characterized by the wave amplitude and rise time coefficient, and differences in pulsatility between the ICP(LV) and ICP(PAR) signals (6 cases) or ICP(LV) and ICP4V signals (1 case) were determined. There was uneven distribution of intracranial pulsatility in all 7 patients, shown as significantly elevated pulsatility (that is, higher wave amplitudes and rise time coefficients) within the ventricles (ICP(LV)) than within brain parenchyma (ICP(PAR)) in 6 patients, and significantly higher pulsatility in the fourth (ICP4V) than in the lateral (ICP(LV)) ventricles in 1 patient. Differences > or = 1 mm Hg in ICP wave amplitude were found in 0.5-100% (median 9.4%) of observations in the 7 patients (total number of 6-second time windows, 68,242). The present observations demonstrate uneven distribution of intracranial pulsatility in patients with hydrocephalus, higher pulse pressure amplitudes within the ventricular CSF (ICP(LV)) than within the brain parenchyma (ICP(PAR)). This may be one mechanism behind ventricular enlargement in hydrocephalus.

  13. Visual outcome after endoscopic third ventriculostomy for hydrocephalus.

    Science.gov (United States)

    Jung, Ji-Ho; Chai, Yong-Hyun; Jung, Shin; Kim, In-Young; Jang, Woo-Youl; Moon, Kyung-Sub; Kim, Seul-Kee; Chong, Sangjoon; Kim, Seung-Ki; Jung, Tae-Young

    2018-02-01

    Hydrocephalus-related symptoms are mostly improved after successful endoscopic third ventriculostomy (ETV). However, visual symptoms can be different. This study was focused on visual symptoms. We analyzed the magnetic resonance images (MRI) of the orbit and visual outcomes. From August 2006 to November 2016, 50 patients with hydrocephalus underwent ETV. The male-to-female ratio was 33:17, and the median age was 61 years (range, 5-74 years). There were 18 pediatric and 32 adult patients. Abnormal orbital MRI findings included prominent subarachnoid space around the optic nerves and vertical tortuosity of the optic nerves. We retrospectively analyzed clinical symptoms, causes of hydrocephalus, ETV success score (ETVSS), ETV success rate, ETV complications, orbital MRI findings, and visual impairment score (VIS). The median duration of follow-up was 59 months (range, 3-113 months). The most common symptoms were headache, vomiting, and gait disturbance. Visual symptoms were found in 6 patients (12%). The most common causes of hydrocephalus were posterior fossa tumor in 13 patients, pineal tumor in 12, aqueductal stenosis in 8, thalamic malignant glioma in 7, and tectal glioma in 4. ETVSS was 70 in 3 patients, 80 in 34 patients, and 90 in 13 patients. ETV success rate was 80%. ETVSS 70 showed the trend in short-term survival compared to ETVSS 90 and 80. ETV complications included epidural hematoma requiring operation in one patient, transient hemiparesis in two patients, and infection in two patients. Preoperative abnormal orbital MRI findings were found in 18 patients and postoperative findings in 7 patients. Four of six patients with visual symptoms had abnormal MR findings. Three patients did not show VIS improvement, including two with severe visual symptoms. Patients with severe visual impairment were found to have bad outcomes. The visual symptoms related with increased intracranial pressure should be carefully monitored and controlled to improve outcomes.

  14. Treatment of Hydrocephalus Associated with Neurosarcoidosis by Multiple Shunt Placement

    OpenAIRE

    Kim, Sung Hoon; Lee, Sang Weon; Sung, Soon Ki; Son, Dong Wuk

    2012-01-01

    A 31-year-old man was admitted to our hospital due to hydrocephalus with neurosarcoidosis. Ventriculo-peritoneal shunting was performed in the right lateral ventricle with intravenous methylprednisolone. Subsequently, after 4 months, additional ventriculo-peritoneal shunting in the left lateral ventricle was performed due to the enlarged left lateral ventricle and slit-like right lateral ventricle. After 6 months, he was re-admitted due to upward gaze palsy, and magnetic resonance image showe...

  15. Tuberculous meningitis in an immunocompetent male complicated by hydrocephalus.

    Science.gov (United States)

    Dunphy, Louise; Shetty, Prashanth; Randhawa, Rabinder; Rani, Kharil Amir; Duodu, Yaw

    2016-10-07

    A 39-year-old man, born in India but resident in the UK for 10 years, was travelling in America when he became feverish with an altered mentation. He reported a 10-day history of fever, photophobia, headache and fatigue. His medical history included hypothyroidism and migraine. He was a non-smoker, did not consume alcohol and denied a history of drug use. He was transferred to the emergency department. Laboratory investigations confirmed hyponatraemia (sodium 128 mmol/L). A chest radiograph confirmed no focal consolidation. Further investigation with a CT brain was unremarkable. A lumbar puncture was suggestive of viral meningitis, with a raised white cell count, lymphocytosis, high protein and low glucose. His PCR was negative for enterovirus and herpes simplex virus. Further investigation with a CT thorax, abdomen and pelvis demonstrated bilateral upper-lobe infiltrations. A bronchoalveolar lavage was negative for acid alcohol fast bacilli (AAFB). A diagnosis of tuberculous meningitis was rendered following a repeat lumbar puncture. Gram stain revealed AAFB and PCR was also positive. He started antitubercular treatment and corticosteroids. A repeat CT brain demonstrated ventriculomegaly, suggestive of hydrocephalus and an MRI head revealed likely communicating hydrocephalus with basilar enhancement. He was repatriated to the UK. Eleven days post transfer, he became acutely confused and required external ventricular drain insertion. After surgical management of his hydrocephalus, there was no further neurological deterioration. He remains committed to his neurorehabilitation. 2016 BMJ Publishing Group Ltd.

  16. Application of MR virtual endoscopy in children with hydrocephalus.

    Science.gov (United States)

    Zhao, Cailei; Yang, Jian; Gan, Yungen; Liu, Jiangang; Tan, Zhen; Liang, Guohua; Meng, Xianlei; Sun, Longwei; Cao, Weiguo

    2015-12-01

    To evaluate the performance of MR virtual endoscopy (MRVE) in children with hydrocephalus. Clinical and imaging data were collected from 15 pediatric patients with hydrocephalus and 15 normal control children. All hydrocephalus patients were confirmed by ventriculoscopy or CT imaging. The cranial 3D-T1 weighted imaging data from fast spoiled gradient echo scan (FSPGR) were transported to working station. VE images of cerebral ventricular cavity were constructed with Navigator software. Cerebral ventricular MRVE can achieve similar results as ventriculoscopy in demonstrating the morphology of ventricular wall or intracavity lesion. In addition, MRVE can observe the lesion from distal end of obstruction, as well as other areas that are inaccessible to ventriculoscopy. MRVE can also reveal the pathological change of ventricular inner wall surface, and help determine patency of the cerebral aqueduct and fourth ventricle outlet. MR virtual endoscopy provides a non-invasive diagnostic modality that can be used as a supplemental approach to ventriculoscopy. However, its sensitivity and specificity need to be determined in the large study. Copyright © 2015 Elsevier Inc. All rights reserved.

  17. Acquired Encephalocele With Hydrocephalus and Pineal Region Epidermoid Cyst.

    Science.gov (United States)

    Toktaş, Zafer Orkun; Yilmaz, Baran; Ekşi, Murat Şakir; Bayoumi, Ahmed B; Akakin, Akin; Yener, Yasin; Demir, Mustafa Kemal; Kiliç, Türker

    2016-07-01

    A combination of trauma and a missed inflammatory response (nasal operation) concomitant with hydrocephalus and tumor in secondary encephalocele has not been described in the English literature yet. A 38-year-old man was admitted to the clinic with rhinorrhea that started 3 months ago. In his medical history, nothing abnormal was present except a nasal operation performed 1 year ago. Brain magnetic resonance imaging depicted left frontal encephalocele concomitant with obstructive hydrocephalus caused by an epidermoid cyst originated from the pineal region. A 2-staged surgery was planned. In the first stage, a ventriculoperitoneal shunt insertion was conveyed successfully. In the second-stage surgery, the herniated brain tissue was excised, and the frontal sinus was cleansed with serum saline combined with antibiotic. The bony defect and the dura defect were repaired. The patient's presenting complaint recovered fully, and he was discharged to home in a well condition. Acquired encephalocele is a rare entity. In case of rhinorrhea and encephalocele, even in the presence of prior history of nasal surgery, intracranial evaluation should be conveyed to exclude the presence of hydrocephalus and/or tumor. The cranial defect should be repaired to prevent future infections and brain tissue damage.

  18. Periventricular hypodensity in communicating hydrocephalus studied by metrizamide CT cisternography

    International Nuclear Information System (INIS)

    Hiratsuka, Hideo; Okada, Kodai; Takasato, Yoshio; Inaba, Yutaka; Tsuyumu, Matsutaira.

    1979-01-01

    Modification of periventricular hypodensity in suspected communicating hydrocephalus was investigated by metrizamide CT cisternography. Six to eight ml of metrizamide isotonic solution with a concentration of 170 mgI/ml was given through lumbar puncture and scanning was conducted 1, 3, 6, 24 and 48 hrs after injection. In addition to visual analysis of images, mean value and standard deviation were calculated for Hounsfield units of the regions of interest at the anterolateral angle of frontal horn and the time courses of the attenuation values were statistically compared to each other at each scanning time. The results were classified into four groups: 1) periventricular low density zone with gradual penetration of metrizamide therein; 2) periventricular low density zone without penetration of metrizamide therein; 3) minimal periventricular low density zone with minimal metrizamide penetration; and 4) no periventricular low density zone and no penetration of metrizamide. The presence of a periventricular low density zone with increase of the density after ventricular reflux of metrizamide would be an important criterion for CSF shunting operation in normal pressure hydrocephalus or communicating hydrocephalus. (author)

  19. Lumbar cisternography in evaluation of hydrocephalus in the preterm infant

    International Nuclear Information System (INIS)

    Donn, S.M.; Roloff, D.W.; Keyes, J.W. Jr.

    1983-01-01

    Radionuclide lumbar cisternography using indium 111-diethylenetriamine pentaacetic acid (111In-DTPA) and a mobile gamma-camera with a converging collimator was utilized as a bedside procedure to evaluate CSF dynamics and the patency of the cerebral ventricular system in 30 preterm infants with hydrocephalus. Serial images of the brain were obtained at 0, 1, 2, 6, 24, and 48 hours after instillation of the isotope in the lumbar subarachnoid space. Three distinct patterns were seen. Infants with posthemorrhagic hydrocephalus displayed prompt ventricular filling but markedly delayed emptying with minimal flow over the cerebral convexities. Infants with ventriculomegaly secondary to suspected brain atrophy or periventricular leukomalacia demonstrated a pattern of prompt ventricular filling, delayed emptying, but with flow present over the convexities. An infant with noncommunicating hydrocephalus secondary to an Arnold-Chiari malformation showed a pattern of complete obstruction with no ventricular filling. Radionuclide lumbar cisternography appears to be a safe, well-tolerated procedure which produces images of sufficient resolution to provide valuable information about CSF dynamics, delineating basal cisternae, ventricles, and subarachnoid flow paths

  20. Extra-cardiac manifestations of adult congenital heart disease.

    Science.gov (United States)

    Gaeta, Stephen A; Ward, Cary; Krasuski, Richard A

    2016-10-01

    Advancement in correction or palliation of congenital cardiac lesions has greatly improved the lifespan of congenital heart disease patients, resulting in a rapidly growing adult congenital heart disease (ACHD) population. As this group has increased in number and age, emerging science has highlighted the systemic nature of ACHD. Providers caring for these patients are tasked with long-term management of multiple neurologic, pulmonary, hepatic, renal, and endocrine manifestations that arise as syndromic associations with congenital heart defects or as sequelae of primary structural or hemodynamic abnormalities. In this review, we outline the current understanding and recent research into these extra-cardiac manifestations. Copyright © 2016 Elsevier Inc. All rights reserved.

  1. Communicating Hydrocephalus Associated with Small- to Medium-Sized Vestibular Schwannomas: Clinical Significance of the Tumor Apparent Diffusion Coefficient Map.

    Science.gov (United States)

    Taniguchi, Masaaki; Nakai, Tomoaki; Kohta, Masaaki; Kimura, Hidehito; Kohmura, Eiji

    2016-10-01

    The etiology of hydrocephalus associated with the small- to medium-sized vestibular schwannomas is still controversial. We investigated tumor-specific factors related to the association of hydrocephalus with small- to medium-sized vestibular schwannomas. Among the 77 patients with vestibular schwannoma smaller than 30 mm, 9 patients demonstrated associated communicating hydrocephalus. Patient medical records, radiologic data, and histopathologic specimens were reviewed retrospectively. The age of the patients, and size, mean apparent diffusion coefficient (ADC) value, and histologic features of the tumors were compared with those of patients without hydrocephalus. The symptoms related to hydrocephalus improved in all patients after tumor removal. Both the mean size and ADC values exhibited a statistically significant difference between the tumors with and without hydrocephalus (P hydrocephalus. The increased tumor ADC value was considered to be the result of degenerative change and suggested the involvement of protein sloughing in the etiology of the associated hydrocephalus. Copyright © 2016 Elsevier Inc. All rights reserved.

  2. Congenital orbital teratoma

    OpenAIRE

    Aiyub, Shereen; Chan, Weng Onn; Szetu, John; Sullivan, Laurence J; Pater, John; Cooper, Peter; Selva, Dinesh

    2013-01-01

    We present a case of mature congenital orbital teratoma managed with lid-sparing exenteration and dermis fat graft. This is a case report on the management of congenital orbital teratoma. A full-term baby was born in Fiji with prolapsed right globe which was surrounded by a nonpulsatile, cystic mass. Clinical and imaging features were consistent with congenital orbital teratoma. Due to limited surgical expertise, the patient was transferred to Adelaide, Australia for further management. The p...

  3. Cytomegalovirus Congenital Cataract

    Directory of Open Access Journals (Sweden)

    Ridha Wahyutomo

    2011-06-01

    Full Text Available Cytomegalovirus congenital infection is an infection caused by the the subfamily â Herpesviridae, during pregnancy. The incidence of infections among newborn infants is 1 %. One of the effects of congenitally acquired infection is the congenital cataract. A 6-year-old child complained to have a blurred vision diagnosed with cytomegalovirus congenital cataract. The diagnosis was confirmed by a positive serology testing for Ig M and Ig G CMV. The laboratory test using Giemsa staining to find inclusion bodies and a faster PCR could not be carried out (Sains Medika, 3(1:84-88.

  4. Genetics Home Reference: congenital hypothyroidism

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Congenital hypothyroidism Congenital hypothyroidism Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Congenital hypothyroidism is a partial or complete loss of function ...

  5. Congenital primary adrenal insufficiency and selective aldosterone defects presenting as salt-wasting in infancy: a single center 10-year experience.

    Science.gov (United States)

    Bizzarri, Carla; Olivini, Nicole; Pedicelli, Stefania; Marini, Romana; Giannone, Germana; Cambiaso, Paola; Cappa, Marco

    2016-08-02

    Salt-wasting represents a relatively common cause of emergency admission in infants and may result in life-threatening complications. Neonatal kidneys show low glomerular filtration rate and immaturity of the distal nephron leading to reduced ability to concentrate urine. A retrospective chart review was conducted for infants hospitalized in a single Institution from 1(st) January 2006 to 31(st) December 2015. The selection criterion was represented by the referral to the Endocrinology Unit for hyponatremia (serum sodium <130 mEq/L) of suspected endocrine origin at admission. Fifty-one infants were identified. In nine infants (17.6 %) hyponatremia was related to unrecognized chronic gastrointestinal or renal salt losses or reduced sodium intake. In 10 infants (19.6 %) hyponatremia was related to central nervous system diseases. In 19 patients (37.3 %) the final diagnosis was congenital adrenal hyperplasia (CAH). CAH was related to 21-hydroxylase deficiency in 18 patients, and to 3β-Hydroxysteroid dehydrogenase (3βHSD) deficiency in one patient. Thirteen patients (25.5 %) were affected by different non-CAH salt-wasting forms of adrenal origin. Four familial cases of X-linked adrenal hypoplasia congenita due to NROB1 gene mutation were identified. Two unrelated girls showed aldosterone synthase deficiency due to mutation of the CYP11B2 gene. Two unrelated infants were affected by familial glucocorticoid deficiency due to MC2R gene mutations. One girl showed pseudohypoaldosteronism related to mutations of the SCNN1G gene encoding for the epithelial sodium channel. Transient pseudohypoaldosteronism was identified in two patients with renal malformations. In two infants the genetic aetiology was not identified. Emergency management of infants presenting with salt wasting requires correction of water losses and treatment of electrolyte imbalances. Nevertheless, the differential diagnosis may be difficult in emergency settings, and sometimes hospitalized infants

  6. A prospective study of etiology of primary Amenorrhea with especial evaluation for non classic congenital adrenal hyperplasia due to 21 Hydroxylase deficiency

    Directory of Open Access Journals (Sweden)

    Moayeri H

    2002-07-01

    Full Text Available Amenorrhea, an absence of menses is a symptom that generally brings teenagers for evaluation. This study was undertaken to determine the etiology of primary amenorrhea with especial concern to non classic congential adrenal hyperplasia (NC-CAH-due 21 hydroxylase deficiency among female adolescents refered to clinics of Pediatric Endocrinology of Tehran and Iran University of Medical sciences and private office. One hundred and five female adolescents were studied. All patients were examined by pediatric endocrinologist.Routine lab tests, FSH, LH, prolactin, T4, TSH, 17-hydroxyprogesterone and in some cases ACTH Stimulation test for screening of NC-CAH due to 21 OH deficiency were performed. Chromosmal analysis, sonography of the ovaries and CT scan or MRI of the brain was performed in some of them. Forty-three patients (41% had ypergonaldotropic hypogonadism and sixty two patiens (59% ahd hypogonadotropic hypogonadism. Turner’s syndrome and constitutional delay of puberty were the most common causes of primary amenorrhea in our study. The frequency of primary amenorrhea in our study. The frequency of primary amenorrhea due to 21-OH deficient NC-CAH was 6.6% in overall (105 cases. This study shows that in a population with high incidence of consanguineous marriages, some rare genetic disorders such as 21 OH deficient NC-CAH are relatively common

  7. Congenital Zika Virus Infection: Beyond Neonatal Microcephaly.

    Science.gov (United States)

    Melo, Adriana Suely de Oliveira; Aguiar, Renato Santana; Amorim, Melania Maria Ramos; Arruda, Monica B; Melo, Fabiana de Oliveira; Ribeiro, Suelem Taís Clementino; Batista, Alba Gean Medeiros; Ferreira, Thales; Dos Santos, Mayra Pereira; Sampaio, Virgínia Vilar; Moura, Sarah Rogéria Martins; Rabello, Luciana Portela; Gonzaga, Clarissa Emanuelle; Malinger, Gustavo; Ximenes, Renato; de Oliveira-Szejnfeld, Patricia Soares; Tovar-Moll, Fernanda; Chimelli, Leila; Silveira, Paola Paz; Delvechio, Rodrigo; Higa, Luiza; Campanati, Loraine; Nogueira, Rita M R; Filippis, Ana Maria Bispo; Szejnfeld, Jacob; Voloch, Carolina Moreira; Ferreira, Orlando C; Brindeiro, Rodrigo M; Tanuri, Amilcar

    2016-12-01

    Recent studies have reported an increase in the number of fetuses and neonates with microcephaly whose mothers were infected with the Zika virus (ZIKV) during pregnancy. To our knowledge, most reports to date have focused on select aspects of the maternal or fetal infection and fetal effects. To describe the prenatal evolution and perinatal outcomes of 11 neonates who had developmental abnormalities and neurological damage associated with ZIKV infection in Brazil. We observed 11 infants with congenital ZIKV infection from gestation to 6 months in the state of Paraíba, Brazil. Ten of 11 women included in this study presented with symptoms of ZIKV infection during the first half of pregnancy, and all 11 had laboratory evidence of the infection in several tissues by serology or polymerase chain reaction. Brain damage was confirmed through intrauterine ultrasonography and was complemented by magnetic resonance imaging. Histopathological analysis was performed on the placenta and brain tissue from infants who died. The ZIKV genome was investigated in several tissues and sequenced for further phylogenetic analysis. Description of the major lesions caused by ZIKV congenital infection. Of the 11 infants, 7 (63.6%) were female, and the median (SD) maternal age at delivery was 25 (6) years. Three of 11 neonates died, giving a perinatal mortality rate of 27.3%. The median (SD) cephalic perimeter at birth was 31 (3) cm, a value lower than the limit to consider a microcephaly case. In all patients, neurological impairments were identified, including microcephaly, a reduction in cerebral volume, ventriculomegaly, cerebellar hypoplasia, lissencephaly with hydrocephalus, and fetal akinesia deformation sequence (ie, arthrogryposis). Results of limited testing for other causes of microcephaly, such as genetic disorders and viral and bacterial infections, were negative, and the ZIKV genome was found in both maternal and neonatal tissues (eg, amniotic fluid, cord blood, placenta, and

  8. Mitochondrial disorders in congenital myopathies

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    D. A. Kharlamov

    2014-01-01

    Full Text Available The literature review gives data on the role of mitochondrial disorders in the pathogenesis of congenital myopathies: congenital muscular dystrophies and congenital structural myopathies. It describes changes in congenital muscular dystrophies with type VI collagen, in myodystrophy with giant mitochondria, in congenital central core myopathies, myotubular myopathy, etc. Clinical and experimental findings are presented. Approaches to therapy for energy disorders in congenital myopathies are depicted.

  9. Altered Cross-Modal Processing in the Primary Auditory Cortex of Congenitally Deaf Adults: A Visual-Somatosensory fMRI Study with a Double-Flash Illusion

    OpenAIRE

    Karns, Christina M.; Dow, Mark W.; Neville, Helen J.

    2012-01-01

    The developing brain responds to the environment by using statistical correlations in input to guide functional and structural changes—that is, the brain displays neuroplasticity. Experience shapes brain development throughout life, but neuroplasticity is variable from one brain system to another. How does the early loss of a sensory modality affect this complex process? We examined cross-modal neuroplasticity in anatomically defined subregions of Heschl's gyrus, the site of human primary aud...

  10. Severe aseptic meningitis with hydrocephalus following iotrolan myelography: A case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jae Hyoung; Ha, Choong Kun; Ahn, In Oak [Gyeongsang National University College of Medicine, Jinju (Korea, Republic of)

    1993-05-15

    A case of severe aseptic meningitis with communicating hydrocephalus following iotrolan myelography is presented. The patient's condition improved very quickly after corticosteroid therapy. Rapid improvement and absence of pathogenic organisms in the CSF culture strongly favor an aseptic meningitis. This is the first reported case of aseptic meningitis with the secondary development of hydrocephalus caused by iotrolan myelography.

  11. Severe aseptic meningitis with hydrocephalus following iotrolan myelography: A case report

    International Nuclear Information System (INIS)

    Kim, Jae Hyoung; Ha, Choong Kun; Ahn, In Oak

    1993-01-01

    A case of severe aseptic meningitis with communicating hydrocephalus following iotrolan myelography is presented. The patient's condition improved very quickly after corticosteroid therapy. Rapid improvement and absence of pathogenic organisms in the CSF culture strongly favor an aseptic meningitis. This is the first reported case of aseptic meningitis with the secondary development of hydrocephalus caused by iotrolan myelography

  12. Morphological and Behavioral Changes in the Pathogenesis of a Novel Mouse Model of Communicating Hydrocephalus

    Science.gov (United States)

    McMullen, Allison B.; Baidwan, Gurlal S.; McCarthy, Ken D.

    2012-01-01

    The Ro1 model of hydrocephalus represents an excellent model for studying the pathogenesis of hydrocephalus due to its complete penetrance and inducibility, enabling the investigation of the earliest cellular and histological changes in hydrocephalus prior to overt pathology. Hematoxylin and eosin staining, immunofluorescence and electron microscopy were used to characterize the histopathological events of hydrocephalus in this model. Additionally, a broad battery of behavioral tests was used to investigate behavioral changes in the Ro1 model of hydrocephalus. The earliest histological changes observed in this model were ventriculomegaly and disorganization of the ependymal lining of the aqueduct of Sylvius, which occurred concomitantly. Ventriculomegaly led to thinning of the ependyma, which was associated with periventricular edema and areas of the ventricular wall void of cilia and microvilli. Ependymal denudation was subsequent to severe ventriculomegaly, suggesting that it is an effect, rather than a cause, of hydrocephalus in the Ro1 model. Additionally, there was no closure of the aqueduct of Sylvius or any blockages within the ventricular system, even with severe ventriculomegaly, suggesting that the Ro1 model represents a model of communicating hydrocephalus. Interestingly, even with severe ventriculomegaly, there were no behavioral changes, suggesting that the brain is able to compensate for the structural changes that occur in the pathogenesis of hydrocephalus if the disorder progresses at a sufficiently slow rate. PMID:22291910

  13. Community Knowledge, Beliefs, Attitudes, and Practices towards Children with Spina Bifida and Hydrocephalus in Uganda

    Science.gov (United States)

    Bannink, Femke; Stroeken, Koenraad; Idro, Richard; van Hove, Geert

    2015-01-01

    This article describes the findings of a qualitative study on knowledge, beliefs, attitudes, and practices towards children with spina bifida and hydrocephalus in four regions of Uganda. Focus group discussions and semi-structured interviews were held with parents of children with spina bifida and hydrocephalus, policy-makers, and service…

  14. Hydrocephalus following severe traumatic brain injury in adults. Incidence, timing, and clinical predictors during rehabilitation

    DEFF Research Database (Denmark)

    Kammersgaard, Lars Peter; Linnemann, Mia; Tibæk, Maiken

    2013-01-01

    To investigate timing and clinical predictors that might predict hydrocephalus emerging during rehabilitation until 1 year following severe traumatic brain injury (TBI).......To investigate timing and clinical predictors that might predict hydrocephalus emerging during rehabilitation until 1 year following severe traumatic brain injury (TBI)....

  15. Radionuclide blood levels during cisternography of patients with normal-pressure hydrocephalus or Alzheimer's disease

    International Nuclear Information System (INIS)

    Mahaley, M.S. Jr.; Wilkinson, R.H. Jr.; Sivalingham, S.; Friedman, H.; Tyson, W.; Goodrich, J.K.

    1974-01-01

    Various diagnostic procedures were compared during investigations of 37 dementia patients undergoing differential study for normal-pressure hydrocephalus or Alzheimer's disease. A diminished radionuclide level in the blood, with abnormal cisternography and pneumoencephalography, provided the most valuable diagnostic evidence of normal-pressure hydrocephalus. (U.S.)

  16. X-linked hydrocephalus : A novel missense mutation in the L1CAM gene

    NARCIS (Netherlands)

    Sztriha, L; Vos, YJ; Verlind, E; Johansen, J; Berg, B

    2002-01-01

    X-linked hydrocephalus is associated with mutations in the L1 neuronal cell adhesion molecule gene. L1 protein plays a key role in neurite outgrowth, axonal guidance, and pathfinding during the development of the nervous system. A male is described with X-linked hydrocephalus who had multiple small

  17. Acute hydrocephalus in a child with a third ventricle arachnoid cyst and coincidental enteroviral meningitis

    NARCIS (Netherlands)

    Jeltema, Hanne-Rinck; Kuijlen, Jos M. A.; Hoving, Eelco W.

    We present a 2.5-year-old child suffering from acute hydrocephalus. First, the child was diagnosed with aseptic viral meningitis. The PCR of the cerebrospinal fluid (CSF) was positive for enterovirus. Subsequently, MRI revealed that the hydrocephalus was caused by a cyst in the third ventricle.

  18. Impact of timing of cranioplasty on hydrocephalus after decompressive hemicraniectomy in malignant middle cerebral artery infarction.

    Science.gov (United States)

    Finger, Tobias; Prinz, Vincent; Schreck, Evelyn; Pinczolits, Alexandra; Bayerl, Simon; Liman, Thomas; Woitzik, Johannes; Vajkoczy, Peter

    2017-02-01

    Patients with malignant middle cerebral artery infarction frequently develop hydrocephalus after decompressive hemicraniectomy. Hydrocephalus itself and known shunt related complications after ventriculo-peritoneal shunt implantation may negatively impact patientś outcome. Here, we aimed to identify factors associated with the development of hydrocephalus after decompressive hemicraniectomy in malignant middle cerebral artery infarction. A total of 99 consecutive patients with the diagnosis of large hemispheric infarctions and the indication for decompressive hemicraniectomy were included. We retrospectively evaluated patient characteristics (gender, age and selected preoperative risk factors), stroke characteristics (side, stroke volume and existing mass effect) and surgical characteristics (size of the bone flap, initial complication rate, time to cranioplasty, complication rate following cranioplasty, type of implant, number of revision surgeries and mortality). Frequency of hydrocephalus development was 10% in our cohort. Patients who developed a hydrocephalus had an earlier time point of bone flap reimplantation compared to the control group (no hydrocephalus=164±104days, hydrocephalus=108±52days, phydrocephalus with a trend towards significance (p=0.08). Communicating hydrocephalus is frequent in patients with malignant middle cerebral artery infarction after decompressive hemicraniectomy. A later time point of cranioplasty might lead to a lower incidence of required shunting procedures in general as we could show in our patient cohort. Copyright © 2016 Elsevier B.V. All rights reserved.

  19. Mental Condition and Ventricular Size in Arrested Hydrocephalus: an Analysis of 29 Shunt‐independent Children

    NARCIS (Netherlands)

    HOLTZER, G.J.; de LANGE, S.A.; ORBAAN, I.J.C.; GELSEMA, R.

    1971-01-01

    textabstractMeasurement of the diameter of the ventricular system, in a series of 29 patients with arrested hydrocephalus who had become shunt‐independent, showed that enlargement of the ventricles does not necessarily play a part in the arrest of hydrocephalus, for in many of these cases the

  20. Evolution of surgical interventions for hydrocephalus: patient preferences and the need for proper information

    Directory of Open Access Journals (Sweden)

    Dr. P. O. Eghwrudjakpor MBBS, DMS, FICS

    2010-07-01

    Full Text Available The treatment of hydrocephalus has undergone remarkable transformation since it was first documented over two thousand years ago. Currently, the focus of hydrocephalus research is on minimally invasive techniques of treatment. This article reviews the evolution of hydrocephalus therapy, and examines current attitudes towards modern methods. We relied on journal publications, as well as literature on hydrocephalus obtained from the Internet (Google, Yahoo and PUBMED search making use of the following search terms: “hydrocephalus: history; treatment; complications”, “cerebrospinal fluid shunt”, “endoscopic third ventriculostomy: indications of; complications of; advantages; disadvantages; successes; failure”. Numerous medical and surgical approaches have been adopted in the treatment of hydrocephalus in the past. However, the breakthrough that ushered in the modern era of hydrocephalus treatment was the introduction of valve-regulated systems in the middle of the last century. Endoscopic third ventriculostomy has evolved to become an alternative to traditional shunts. Cerebrospinal fluid shunt procedures are very effective in the treatment of hydrocephalus and have radically transformed the outcome of the disorder. However, they have a number of limitations. The alternative to shunts, endoscopic third ventriculostomy, is relatively safe, effective and durable. It does not, however, succeed in every patient; and also has some potentially devastating complications. Preoperative counseling is imperative to ensure that patients are properly guided.

  1. Congenital uronephropathy pattern in children

    Directory of Open Access Journals (Sweden)

    Husein Alatas

    2001-10-01

    Full Text Available To obtain the basic data of congenital uronephropathy pattern and the affecting factors in children, we conducted a cross-sectional study at the Department of Child Health Cipto Mangunkusumo (CM Hospital Jakarta from 1995 to 1999 and 9 teaching hospitals throughout Indonesia. During the study period 134 patients were obtained, 116 patients from the CM Hospital and 18 patients from other teaching hospitals. Most patients (48.8% were below 1 year of age; male were affected more than female (2.4:1. The disorder was classified into two groups, i.e., congenital nephropathy and uropathy. There were 10 children with nephropathy, i.e., 4 with unilateral renal hypoplasia, 3 with polycystic kidney, and 3 with renal agenesis. In the uropathy group, 43 were with hypospadia, 22 with primary reflux vesicoureter, 18 with neurogenic bladder, and 17 with ureteropelvic junction obstruction. The complications found were urinary tract infection (71.2%, chronic renal failure (15.7%, hypertension (3.7%, and acute renal failure (1.5%. Consanguinity, familial disorders, maternal diseases, x-ray exposure and abortion efforts were found in a small proportion of patients. History of drug or herbs use in the first trimester of pregnancy was found in a large proportion of patients, mostly took analgesics (especially acetaminophen. In conclusion, uropathy disorders were much more common than congenital nephropathy. The most common complication was urinary tract infection, followed by chronic renal failure, hypertension, and acute renal failure.

  2. Prenatal education for congenital toxoplasmosis.

    Science.gov (United States)

    Di Mario, Simona; Basevi, Vittorio; Gagliotti, Carlo; Spettoli, Daniela; Gori, Gianfranco; D'Amico, Roberto; Magrini, Nicola

    2015-10-23

    Congenital toxoplasmosis is considered a rare but potentially severe infection. Prenatal education about congenital toxoplasmosis could be the most efficient and least harmful intervention, yet its effectiveness is uncertain. To assess the effects of prenatal education for preventing congenital toxoplasmosis. We searched the Cochrane Pregnancy and Childbirth Group's Trials Register (31 May 2015), and reference lists of relevant papers, reviews and websites. Randomized and quasi-randomized controlled trials of all types of prenatal education on toxoplasmosis infection during pregnancy. Cluster-randomized trials were eligible for inclusion. Two review authors independently assessed trials for inclusion and risk of bias, extracted data and checked them for accuracy. Two cluster-randomized controlled trials (RCTs) (involving a total of 5455 women) met the inclusion criteria. The two included trials measured the effectiveness of the intervention in different ways, which meant that meta-analysis of the results was not possible. The overall quality of the two studies, as assessed using the GRADE approach, was low, with high risk of detection and attrition bias in both included trials.One trial (432 women enrolled) conducted in Canada was judged of low methodological quality. This trial did not report on any of the review's pre-specified primary outcomes and the secondary outcomes reported results only as P values. Moreover, losses to follow-up were high (34%, 147 out of 432 women initially enrolled). The authors concluded that prenatal education can effectively change pregnant women's behavior as it increased pet, personal and food hygiene. The second trial conducted in France was also judged of low methodological quality. Losses to follow-up were also high (44.5%, 2233 out of 5023 women initially enrolled) and differential (40% in the intervention group and 52% in the control group). The authors concluded that prenatal education for congenital toxoplasmoses has a

  3. Risk factors for hydrocephalus and neurological deficit in children born with an encephalocele.

    Science.gov (United States)

    Da Silva, Stephanie L; Jeelani, Yasser; Dang, Ha; Krieger, Mark D; McComb, J Gordon

    2015-04-01

    There is a known association of hydrocephalus with encephaloceles. Risk factors for hydrocephalus and neurological deficit were ascertained in a series of patients born with an encephalocele. A retrospective analysis was undertaken of patients treated for encephaloceles at Children's Hospital Los Angeles between 1994 and 2012. The following factors were evaluated for their prognostic value: age at presentation, sex, location of encephalocele, size, contents, microcephaly, presence of hydrocephalus, CSF leak, associated cranial anomalies, and neurological outcome. Seventy children were identified, including 38 girls and 32 boys. The median age at presentation was 2 months. The mean follow-up duration was 3.7 years. Encephalocele location was classified as anterior (n = 14) or posterior (n = 56) to the coronal suture. The average maximum encephalocele diameter was 4 cm (range 0.5-23 cm). Forty-seven encephaloceles contained neural tissue. Eight infants presented at birth with CSF leaking from the encephalocele, with 1 being infected. Six patients presented with hydrocephalus, while 11 developed progressive hydrocephalus postoperatively. On univariate analysis, the presence of neural tissue, cranial anomalies, encephalocele size of at least 2 cm, seizure disorder, and microcephaly were each positively associated with hydrocephalus. On multivariate logistic regression modeling, the single prognostic factor for hydrocephalus of borderline statistical significance was the presence of neural tissue (odds ratio [OR] = 5.8, 95% confidence interval [CI] = 0.8-74.0). Fourteen patients had severe developmental delay, 28 had mild/moderate delay, and 28 were neurologically normal. On univariate analysis, the presence of cranial anomalies, larger size of encephalocele, hydrocephalus, and microcephaly were positively associated with neurological deficit. In the multivariable model, the only statistically significant prognostic factor for neurological deficit was presence of

  4. Congenital heat disease

    International Nuclear Information System (INIS)

    Higgins, C.B.; Silverman, N.H.; Kersting-Somerhoff, B.A.

    1990-01-01

    The book covers the tomographic anatomy of the normal and congenitally malformed heart and tomographic imaging of the normal heat. It then compares echocardiographic evaluation and the use of MR imaging in the diagnosis and evaluation of individual congenital cardiac malformations

  5. The influence of decompressive craniectomy on the development of hydrocephalus: a review

    Directory of Open Access Journals (Sweden)

    Jun Ding

    2014-09-01

    Full Text Available Decompressive craniectomy (DC is widely used to treat intracranial hypertension following traumatic brain injury (TBI or cerebral vascular disease. Many studies have discussed complications of this procedure, and hydrocephalus is a common complication of DC. To further evaluate the relationship between DC and hydrocephalus, a review of the literature was performed. Numerous complications may arise after DC, including contusion or hematoma expansion, epilepsy, herniation of the cortex through a bone defect, CSF leakage through the scalp incision, infection, subdural effusion, hydrocephalus and “syndrome of the trephined”. Several hydrocephalus predictors were identified; these included DC, distance from the midline, hygroma, age, injury severity, subarachnoid or intraventricular hemorrhage, delayed time to craniotomy, repeated operation, and duraplasity. However, results differed among studies. The impact of DC on hydrocephalus remains controversial.

  6. Hypoxic ischemia encephalopathy leading to external hydrocephalus and the cerebral atrophy: mechanism and differential diagnosis

    International Nuclear Information System (INIS)

    Huang Zhenglin; Mo Xiaorong

    2002-01-01

    Objective: It is a study of the mechanism and differential diagnosis of the infant external hydrocephalus and cerebral atrophy. Methods: In total 84 cases of neonatal hypoxic ischemia encephalopathy followed by infant external hydrocephalus were investigated, among which 26 patients gradually were found having developed cerebral atrophy in follow up. Results: Characteristic dilation of the frontal-parietal subarachnoid space and the adjacent cistern was noted on the CT images of the external hydrocephalus. CT revealed the enlarged ventricle besides the dilated subarachnoid space in the cases of cerebral atrophy, while these two entities were indistinguishable on CT in the early stage. Conclusion: Clinical manifestations make a major differential diagnosis of the external hydrocephalus and cerebral atrophy: tic and mild delayed development of locomotion over major presentation of external hydrocephalus, while cerebral atrophy is featured by remarkable dysnoesia and severe delayed development of locomotion. In addition, hemiplegia and increased muscular tension are presented in a few cases of cerebral atrophy

  7. Hydrocephalus and mucopolysaccharidoses: what do we know and what do we not know?

    Science.gov (United States)

    Dalla Corte, Amauri; de Souza, Carolina F M; Anés, Maurício; Giugliani, Roberto

    2017-07-01

    The precise incidence of hydrocephalus in patients with mucopolysaccharidoses (MPS) is hard to determine, because the condition lacks a formal, consensus-based definition. The diagnosis of hydrocephalus depends on symptom profile, presence of neuroimaging features, and the outcome of diagnostic tests. Although numerous techniques are used to identify MPS patients who are most likely to have hydrocephalus and respond to treatment, no definitive method exists to prove diagnosis. The authors propose an algorithm to aid in the diagnosis and management of hydrocephalus in MPS patients. The theory of venous hypertension associated with the morphological changes in the skull base and craniocervical junction indicate the need for future neuroimaging studies including cerebrospinal fluid (CSF) and venous flow measurements to monitor hydrocephalus progression and select therapeutic interventions in MPS patients. Preoperative planning should also be based on the increased risk of intraoperative and postoperative hemorrhagic complications.

  8. Key aspects congenital infection

    Directory of Open Access Journals (Sweden)

    Yu. V. Lobzin

    2014-01-01

    Full Text Available The key questions to solve the problem of congenital infection in the Russian Federation are: using in national practice over world accepted terminology adapted to the recommendations of the World Health Organization; representation of the modern concepts of an infectious process in the classification of congenital infections; scientific development and introducing in clinical practice the «standard case definitions», applied to different congenital infections; optimization of protocols and clinical guidelines for diagnosis, treatment and prevention of congenital infections; improvement a knowledge in the infectious disease for all  pecialists involved in the risk assessment of congenital infections, manage pregnancy and children. Based on our experience and analysis of publications, the authors suggest possible solutions.

  9. Predictors of Shunt-dependent Hydrocephalus After Aneurysmal Subarachnoid Hemorrhage? A Systematic Review and Meta-Analysis.

    Science.gov (United States)

    Xie, Zhiyi; Hu, Xin; Zan, Xin; Lin, Sen; Li, Hao; You, Chao

    2017-10-01

    Hydrocephalus is a well-recognized complication after aneurysmal subarachnoid hemorrhage (aSAH). This study aimed to identify predictors for shunt-dependent hydrocephalus (SDHC) after aSAH via a systematic review and meta-analysis. A systematic search was conducted using the Embase, MEDLINE, and Web of Science databases for studies pertaining to aSAH and SDHC. Risk factors were assessed by meta-analysis when they were reported by at least 2 studies. The results were presented as odd ratios or risk ratios according to the study design with the corresponding 95% confidence intervals (CI). Twenty-five studies were included. In primary analysis of 14 potential risk factors, 12 were identified as predictors of SDHC after aSAH including age ≥50 years, female gender, high Hunt-Hess grade, Glasgow Coma Scale ≤8, Fisher grade ≥3, acute hydrocephalus, external ventricular drainage insertion, intraventricular hemorrhage, postcirculation aneurysm, anterior communicating artery aneurysm, meningitis, and rebleeding. The meta-analysis based on cohort studies found a significantly increased risk for SDHC in patients with aSAH treated by coiling (risk ratio, 1.16; 95% CI, 1.05-1.29), while the meta-analysis based on case-controlled studies failed to replicate this finding (odds ratio, 1.27; 95% CI, 0.95-1.71). Several new predictors of SDHC after aSAH were identified that may assist with the early recognition and prevention of SDHC. The controversial evidence found in this study was insufficient to support the potential of neurosurgical clipping for reducing the risk of shunt dependency. Further well-designed studies are warranted to explore the effect of treatment modality on SDHC risk. Copyright © 2017 Elsevier Inc. All rights reserved.

  10. Management of congenital esophageal stenosis associated with ...

    African Journals Online (AJOL)

    Aim The aim of this work was to study the incidence, management of congenital esophageal stenosis (CES) associated with esophageal atresia (EA) and tracheoesophageal fistula (TEF), and its impact on esophageal stricture (ES) after primary repair. Patients and methods From January 2006 to December 2014, ...

  11. Clinical and Surgical Factors Associated With Increased Epilepsy Risk in Children With Hydrocephalus.

    Science.gov (United States)

    Tully, Hannah M; Kukull, Walter A; Mueller, Beth A

    2016-06-01

    Children with hydrocephalus are at risk for epilepsy both due to their underlying condition and as a consequence of surgical treatment; however, the relative contributions of these factors remain unknown. The authors sought to characterize epilepsy among children with infancy-onset hydrocephalus and to examine the risks of epilepsy associated with hydrocephalus subtype and with factors related to surgical treatment. We conducted a longitudinal cohort study of all children with infancy-onset hydrocephalus treated at a major regional children's hospital during 2002 to 2012, with follow-up to ascertain risk factors and epilepsy outcome through April 2015. Poisson regression was used to calculate adjusted risk ratios and 95% confidence intervals for associations. Among 379 children with hydrocephalus, 86 (23%) developed epilepsy (mean onset age = 2.7 years), almost one fifth of whom had a history of infantile spasms. Relative to spina bifida-associated hydrocephalus, children with other major hydrocephalus subtypes had fourfold higher risks of developing epilepsy. Among children who underwent surgery, surgical infection doubled the risk of epilepsy (risk ratio = 2.0, 95% confidence interval = 1.4 to 3.0). Epilepsy was associated with surgical failure for intracranial reasons but not extracranial reasons (risk ratio = 1.7, 95% confidence interval = 1.1 to 2.7; risk ratio = 1.1, 95% confidence interval = 0.7 to 1.9, respectively). Epilepsy is common among children with hydrocephalus. Compared with children with spina bifida-associated hydrocephalus, children with other major hydrocephalus subtypes have a markedly increased risk of epilepsy. Surgical infection doubles the risk of epilepsy. Copyright © 2016 Elsevier Inc. All rights reserved.

  12. Post-hemispherectomy hydrocephalus: results of a comprehensive, multi-institutional review

    Science.gov (United States)

    Lew, Sean M.; Matthews, Anne E.; Hartman, Adam L.; Haranhalli, Neil

    2012-01-01

    SUMMARY Purpose Hemispherectomy surgery for medically intractable epilepsy is known to cause hydrocephalus in a subset of patients. Existing data regarding the incidence of, and risk factors for developing, post-hemispherectomy hydrocephalus has been limited by the relatively small number of cases performed by any single center. Our goal was to better understand this phenomenon and to identify risk factors that may predispose patients to developing hydrocephalus after hemispherectomy surgery. Methods Fifteen pediatric epilepsy centers participated in this study. A retrospective chart review was performed on all available patients who had hemispherectomy surgery. Data collected included surgical techniques, etiology of seizures, prior brain surgery, symptoms and signs of hydrocephalus, timing of shunt placement and basic demographics. Key findings Data were collected from 736 patients who underwent hemispherectomy surgery between 1986 and 2011. Forty-six patients had pre-existing shunted hydrocephalus and were excluded from analysis, yielding 690 patients for this study. One hundred sixty-two patients (23%) required hydrocephalus treatment. The timing of hydrocephalus ranged from the immediate post-operative period to 8.5 years after surgery, with 43 patients (27%) receiving shunts more than 90 days after surgery. Multivariate regression analysis revealed anatomic hemispherectomies (OR 4.1, phydrocephalus. There was a trend towards significance for the use of hemostatic agents (O.R. 2.2, p=0.07) and the involvement of basal ganglia or thalamus in the resection (O.R. 2.2, p=0.08) as risk factors. Significance Hydrocephalus is a common sequela of hemispherectomy surgery. Surgical technique and prior brain surgery influence the occurrence of post-hemispherectomy hydrocephalus. A significant portion of patients develop hydrocephalus on a delayed basis, indicating the need for long-term surveillance. PMID:23106378

  13. The clinical application and nursing experience of adjustable shunt valve in treatment for patients with normal pressure hydrocephalus

    Directory of Open Access Journals (Sweden)

    YANG Li-rong

    2012-02-01

    Full Text Available Objective To introduce the application of adjustable shunt valve in treatment for patients with normal pressure hydrocephalus. Methods Twenty-four patients with normal pressure hydrocephalus implanted adjustable shunt valve underwent ventriculo-peritoneal shunt surgery and nursing care. Results After operation, cerebrospinal pressure was regulated for 0-6 (1.88 ± 1.52 times. Clinical symptoms were improved, especially in gait disturbance. Conclusion Treatment of normal pressure hydrocephalus with adjustable shunt valve can alleviate symptoms of hydrocephalus. It is especially suitable for patients with short course and secondary normal hydrocephalus patients.

  14. Kniest disease with Pierre Robin syndrome and hydrocephalus

    International Nuclear Information System (INIS)

    Silengo, M.C.; Davi, G.F.; Bianco, R.; DeMarco, A.; Franceschini, P.

    1983-01-01

    A 3-month-old male infant with clinical and radiological features of Kniest disease is reported. Additional findings were severe Pierre Robin syndrome and external hydrocephalus. The patient was retarded in mental and motor development. He died at 4 months of age from the complications of tracheostomy. The parents were both normal clinically and radiologically, thus the disease in the child was presumably due to a new mutation. The reported familial cases of Kniest disease suggest autosomal dominant inheritance. The differential diagnosis is discussed in detail. (orig.)

  15. A Rare Complication of Acute Otitis Media: Otitic Hydrocephalus

    Directory of Open Access Journals (Sweden)

    Ahmet Mutlu

    2013-06-01

    Full Text Available Acute otitis media is very common disorder in childhood. In this article we present a 6-years old boy who applied with diplopia, dysfunction of lateral eye movements on left eye, nausea, at 10th day of acute otitis media treatment. After the radiological images case was described as an otitic hydrocephalus clinic. Patient underwent medical treatment, lomboperitoneal shunt operation and simple mastoidectomy. We wanted to share the evaluation and the management steps of this very rare complication of acute otitis media.

  16. Neonatal Bartter syndrome with cholelithiasis and hydrocephalus: Rare association.

    Science.gov (United States)

    Özdemir, Özmert Ma; Çıralı, Ceren; Yılmaz Ağladıoğlu, Sebahat; Evrengül, Havva; Tepeli, Emre; Ergin, Hacer

    2016-09-01

    Neonatal Bartter syndrome (NBS) is a rare autosomal recessive renal tubular disorder. This disease is characterized by hypokalemia, hypochloremia, and metabolic alkalosis that is often associated with failure to thrive and recurrent episodes of dehydration. The combination of BS and cholelithiasis in an infant is very rare. Herein, we report a premature male infant with NBS who developed cholelithiasis and hydrocephalus on clinical follow up. We recommend that periodic routine hepatobiliary ultrasonograpic screening for cholelithiasis should be performed in patients with NBS. © 2016 Japan Pediatric Society.

  17. Congenital intestinal lymphangiectasia. A case report

    Directory of Open Access Journals (Sweden)

    Georgios Mitsiakos

    2017-12-01

    Full Text Available Congenital intestinal lymphangiectasia, first described by Waldmann et al. in 1961, is a rare congenital malformation of the lymphatics, presented with generalized edema, hypoproteinemia and lymphopenia. Diagnosis is based on endoscopy findings and pathology.We present here a case of a male neonate, second child of an indigenous woman, delivered by caesarean section. Prenatally, multiple cystic abdominal masses were identified by ultrasound. The patient was treated successfully with enterectomy and anastomosis. Histopathology revealed primary intestinal lymphangiectasia with no features of malignancy.Intestinal lymphangiectasia is a rare pathology, which should be differentiated while exploring abdominal masses, hypoproteinemia and edema especially in neonates.

  18. Congenital milia En plaque on scalp

    Directory of Open Access Journals (Sweden)

    Sangita Ghosh

    2015-01-01

    Full Text Available Milia en plaque is a rare disease entity characterized by confluence of multiple keratin-filled cysts resulting from the obstruction of hair follicle without any preceding primary dermatosis. Fewer than 40 cases have been reported so far in dermatological literature, and most cases are described to occur in adults and in the peri-auricular area. We describe a case of congenital MEP on scalp of a five-year-old boy with a blaschkoid extension into posterior nuchal area. This case report claims its uniqueness because of the unusual site and congenital presentation.

  19. [Primary, single-stage arterial switch operations at a newly-established, comprehensive congenital cardiac center performed in the neonatal age and beyond].

    Science.gov (United States)

    Király, László; Tamás, Csaba

    2015-06-21

    Outcome of arterial switch operation for transposition of the great arteries with/without ventricular septal defect is a service key-performance-indicator. The aim of the authors was to assess patient characteristics and parameters in the perioperative course. In the setting of a newly-established, comprehensive tertiary-care center, primary complete repair was performed including associated anomalies, e.g. transverse arch repairs. Patients with d-transposition were grouped according to coexistence of ventricular septal defect. 118 arterial switch operations were performed between 2007 and 2014 with 96.62% survival (114/118). Ventricular septal defect and repair of associated anomalies did not yield worse outcome. Left ventricular re-training with late presentation necessitated mechanical circulatory support for 4.5±1.5 days. D-transposition is suitable for standardization of clinical algorithm and surgical technique. Quality standards contribute to excellent outcomes, minimize complications, and serve as blueprint for other neonatal open-heart procedures. Availability of mechanical circulatory support is key for single-stage left ventricular re-training beyond the neonatal period.

  20. Congenital symmastia revisited

    DEFF Research Database (Denmark)

    Sillesen, Nanna H; Hölmich, Lisbeth R; Siersen, Hans Erik

    2012-01-01

    Symmastia is defined as medial confluence of the breast. The term 'symmastia' is modified from Greek (syn meaning 'together', and mastos meaning 'breast') and was first presented by Spence et al. in 1983. Two forms of symmastia exist: an iatrogenic and a congenital version. Congenital symmastia...... is a rare condition in which web-like soft tissue traverses the sternum to connect the breasts medially. The literature on congenital symmastia is limited, few cases have been published, and knowledge about ideal treatment is still insufficient....

  1. CT manifestation of congenital toxoplasmosis infection of the brain (report of 42 cases)

    International Nuclear Information System (INIS)

    Wang Zhenyu; Li Shuxin; Feng Kun

    1997-01-01

    To improve the recognition and diagnosis of congenital toxoplasmosis infection of the brain, forty-two cases of congenital toxoplasmosis infection of the brain verified by serological tests and initially investigated by CT were retrospectively studied. The main diagnostic feature of the entity included: (1) Widely scattered small nodular or curvilinear calcifications involving the basal ganglia, subependymal region and the frontal or parietal lobes; (2) Small patches of low density foci located at the paraventricular and gray-white matter junction area with some enhancement surrounding the foci after contrast media administration; (3) Evidence of obstructive hydrocephalus and (4) Complications of CNS malformation or developmental problems. Conclusion: CT was one of the best methods for the diagnosis of this entity, however, it should be closely correlated with the results from serological tests

  2. Treatment of posthemorrhagic hydrocephalus in premature infants with subcutaneous reservoir drainage.

    Science.gov (United States)

    Yu, Bo; Li, Shasha; Lin, Zhenlang; Zhang, Nu

    2009-01-01

    To investigate the effectiveness of subcutaneous reservoir drainage as a treatment for the different types of posthemorrhagic hydrocephalus in premature infants. 11 premature infants with posthemorrhagic hydrocephalus underwent subcutaneous reservoir embedment surgery, and cerebrospinal fluid (CSF) was drained via the reservoir intermittently for 8 weeks. During the period of drainage, ultrasound and computerized tomography were used to measure ventricle size. CSF examinations were performed routinely to assess the presence of intraventricular hemorrhage (IVH) and/or infection. (1) Five infants were diagnosed as having obstructive hydrocephalus; 2 had nearly normal ventricle sizes with treatment and drainage was stopped after 8 weeks, 2 had nearly normal ventricle sizes after 4 more weeks of drainage, and 1 underwent ventriculoperitoneal shunt (V-P shunt) surgery due to failure of ventricle size reduction. (2) Six infants were diagnosed as having communicating hydrocephalus; 4 had further enlarged ventricle size after 8 weeks and underwent V-P shunt surgery, 1 had treatment aborted at week 8 of drainage, and only 1 had moderate reduction of ventricle size after 8 weeks. (3) None of the 11 infants had progressive IVH and/or intracranial infection during drainage. Subcutaneous reservoir drainage is a suitable and safe treatment for posthemorrhagic hydrocephalus in premature infants. It is more effective for obstructive hydrocephalus than for communicating hydrocephalus. Copyright (c) 2009 S. Karger AG, Basel.

  3. Communicating Hydrocephalus Associated with Intracranial Schwannoma Treated by Gamma Knife Radiosurgery.

    Science.gov (United States)

    Park, Chang Kyu; Lee, Sung Ho; Choi, Man Kyu; Choi, Seok Keun; Park, Bong Jin; Lim, Young Jin

    2016-05-01

    Gamma knife radiosurgery (GKRS) has been established as an effective and safe treatment for intracranial schwannoma. However, serious complications can occur after GKRS, including hydrocephalus. The pathophysiology and risk factors of this disorder are not yet fully understood. The objective of the study was to assess potential risk factors for hydrocephalus after GKRS. We retrospectively reviewed the medical radiosurgical records of 244 patients who underwent GKRS to treat intracranial schwannoma. The following parameters were analyzed as potential risk factors for hydrocephalus after GKRS: age, sex, target volume, irradiation dose, prior tumor resection, treatment technique, and tumor enhancement pattern. The tumor enhancement pattern was divided into 2 groups: group A (homogeneous enhancement) and group B (heterogeneous or rim enhancement). Of the 244 patients, 14 of them (5.7%) developed communicating hydrocephalus. Communicating hydrocephalus occurred within 2 years after GKRS in most patients (92.8%). No significant association was observed between any of the parameters investigated and the development of hydrocephalus, with the exception of tumor enhancement pattern. Group B exhibited a statistically significant difference by univariate analysis (P = 0.002); this difference was also significant by multivariate analysis (P = 0.006). Because hydrocephalus is curable, patients should be closely monitored for the development of this disorder after GKRS. In particular, patients with intracranial schwannomas with irregular enhancement patterns or cysts should be meticulously observed. Copyright © 2015 Elsevier Inc. All rights reserved.

  4. Prolonged hydrocephalus induced by intraventricular hemorrhage in rats is reduced by curcumin therapy.

    Science.gov (United States)

    Qi, Zhihua; Zhang, Huiqin; Fu, Chuhua; Liu, Xiao; Chen, Bo; Dang, Yanwei; Chen, Huayun; Liu, Lijun

    2017-01-10

    Prolonged hydrocephalus is a major cause of severe disability and death of intraventricular hemorrhage (IVH) patients. However, the therapeutic options to minimize the detrimental effects of post-hemorrhagic hydrocephalus are limited. Curcumin has been reported to confer neuroprotective effects in numerous neurological diseases and injuries, but its role in IVH-induced hydrocephalus has not been determined. The aim of present study was to determine whether curcumin treatment ameliorates blood brain barrier (BBB) damage and reduces the incidence of post-hemorrhagic hydrocephalus in IVH rat model. Autologous blood intraventricular injection was used to establish the IVH model. Our results revealed that repeated intraperitoneal injection of curcumin ameliorated IVH-induced learning and memory deficits as determined by Morris water maze and reduced the incidence of post-hemorrhagic hydrocephalus in a dose-dependent manner at 28 d post-IVH induction. Further, the increased BBB permeability and brain edema induced by IVH were significantly reduced by curcumin administration. In summary, these findings highlighted the important role of curcumin in improving neurological function deficits and protecting against BBB disruption via promoting the neurovascular unit restoration, and thus it reduced the severity of post-hemorrhagic hydrocephalus in the long term. It is believed that curcumin might prove to be an effective therapeutic component in prevent the post-IVH hydrocephalus in the near future. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  5. Radionuclide cisternography in the diagnosis of hydrocephalus type in tuberculous meningitis in children

    International Nuclear Information System (INIS)

    Zafra B, R.M.

    1993-01-01

    The radionuclide cisternography permits an accurate diagnosis in hydrocephalus, this is an easy procedure, not traumatic nor expensive. Hydrocephalus is one of the most serious complications of tuberculous meningitis, that, without an opportune treatment, leads to severe sequel and death of the patient. The medical records of thirty patients with diagnosis of tuberculosis meningitis were reviewed, to whom the Neuro-Pediatric Service of the National Institute of Children Health solicited radionuclide cisternography to evaluate hydrocephalus and to determinate type, between january 1990 and october 1992. The hydrocephalus was demonstrated by radionuclide cisternography in 26/30 patients (86,7%) The most frequent age was in children under five years old 21/26 (80,7%) and pre-students in 65,38%. The most common finding was communicating hydrocephalus, pattern type IV in 20/30 patients (66,7%). It is concluded that the radionuclide cisternography is very useful for the diagnosis of hydrocephalus and its type patients with tuberculous meningitis. This exam is recommended for all patients with diagnosis of tuberculous meningitis, with no satisfactory evolution, in order to obtain an early diagnosis of hydrocephalus and its type, and get an opportune medical or surgical treatment. (author). 35 refs., 3 tab., 8 ills

  6. Ongoing search for diagnostic biomarkers in idiopathic normal pressure hydrocephalus.

    Science.gov (United States)

    Tarnaris, Andrew; Toma, Ahmed K; Kitchen, Neil D; Watkins, Laurence D

    2009-12-01

    Idiopathic normal pressure hydrocephalus is a syndrome, which typically has a clinical presentation of gait/balance disturbance, often accompanied by cognitive decline and/or urinary incontinence. Its diagnosis is based on relevant history and clinical examination, appropriate imaging findings and physiological testing. The clinical picture of idiopathic normal pressure hydrocephalus may occasionally be difficult to distinguish from that of Alzheimer's dementia, subcortical ischemic vascular dementia and Parkinson's disease. The aim of this article is to systematically review the literature from the last 29 years in order to identify cerebrospinal fluid (CSF) or imaging biomarkers that may aid in the diagnosis of the syndrome. The authors concluded that no CSF or imaging biomarker is currently fulfilling the criteria required to aid in the diagnosis of the condition. However, a few studies have revealed promising CSF and imaging markers that need to be verified by independent groups. The reasons that the progress in this field has been slow so far is also commented on, as well as steps required to apply the current evidence in the design of future studies within the field.

  7. Control volume based hydrocephalus research; a phantom study

    Science.gov (United States)

    Cohen, Benjamin; Voorhees, Abram; Madsen, Joseph; Wei, Timothy

    2009-11-01

    Hydrocephalus is a complex spectrum of neurophysiological disorders involving perturbation of the intracranial contents; primarily increased intraventricular cerebrospinal fluid (CSF) volume and intracranial pressure are observed. CSF dynamics are highly coupled to the cerebral blood flows and pressures as well as the mechanical properties of the brain. Hydrocephalus, as such, is a very complex biological problem. We propose integral control volume analysis as a method of tracking these important interactions using mass and momentum conservation principles. As a first step in applying this methodology in humans, an in vitro phantom is used as a simplified model of the intracranial space. The phantom's design consists of a rigid container filled with a compressible gel. Within the gel a hollow spherical cavity represents the ventricular system and a cylindrical passage represents the spinal canal. A computer controlled piston pump supplies sinusoidal volume fluctuations into and out of the flow phantom. MRI is used to measure fluid velocity and volume change as functions of time. Independent pressure measurements and momentum flow rate measurements are used to calibrate the MRI data. These data are used as a framework for future work with live patients and normal individuals. Flow and pressure measurements on the flow phantom will be presented through the control volume framework.

  8. Post-hemorrhagic hydrocephalus: Recent advances and new therapeutic insights.

    Science.gov (United States)

    Chen, Qianwei; Feng, Zhou; Tan, Qiang; Guo, Jing; Tang, Jun; Tan, Liang; Feng, Hua; Chen, Zhi

    2017-04-15

    Post-hemorrhagic hydrocephalus (PHH), also referred to as progressive ventricular dilatation, is caused by disturbances in cerebrospinal fluid (CSF) flow or absorption following hemorrhage in the brain. As one of the most serious complications of neonatal/adult intraventricular hemorrhage (IVH), subarachnoid hemorrhage (SAH), and traumatic brain injury (TBI), PHH is associated with increased morbidity and disability of these events. Common sequelae of PHH include neurocognitive impairment, motor dysfunction, and growth impairment. Non-surgical measures to reduce increased intracranial pressure (ICP) in PHH have shown little success and most patients will ultimately require surgical management, such as external ventricular drainage and shunting which mostly by inserting a CSF drainage shunt. Unfortunately, shunt complications are common and the optimum time for intervention is unclear. To date, there remains no comprehensive strategy for PHH management and it becomes imperative that to explore new therapeutic targets and methods for PHH. Over past decades, increasing evidence have indicated that hemorrhage-derived blood and subsequent metabolic products may play a key role in the development of IVH-, SAH- and TBI-associated PHH. Several intervention strategies have recently been evaluated and cross-referenced. In this review, we summarized and discussed the common aspects of hydrocephalus following IVH, SAH and TBI, relevant experimental animal models, clinical translation of in vivo experiments, and potential preventive and therapeutic targets for PHH. Copyright © 2017 Elsevier B.V. All rights reserved.

  9. Radiation doses to children with shunt-treated hydrocephalus

    Energy Technology Data Exchange (ETDEWEB)

    Holmedal, Lise J. [Helse Fonna, Department of Radiology, Stord Hospital, Stord (Norway); Friberg, Eva G.; Boerretzen, Ingelin; Olerud, Hilde [The Norwegian Radiation Protection Authority, Oesteraas (Norway); Laegreid, Liv [Haukeland University Hospital, Department of Paediatrics, Bergen (Norway); Rosendahl, Karen [University of Bergen, Department of Surgical Sciences, Radiology Section, Bergen (Norway); Great Ormond Street Hospital for Children, Department of Diagnostic Radiology, London (United Kingdom)

    2007-12-15

    Children with shunt-treated hydrocephalus are still followed routinely with frequent head CT scans. To estimate the effective dose, brain and lens doses from these examinations during childhood, and to assess dose variation per examination. All children born between 1983 and 1995 and treated for hydrocephalus between 1983 and 2002 were included. We retrospectively registered the number of examinations and the applied scan parameters. The effective dose was calculated using mean conversion factors from the CT dose index measured free in air, while doses to the lens and brain were estimated using tabulated CT dose index values measured in a head phantom. A total of 687 CT examinations were performed in 67 children. The mean effective dose, lens dose and brain dose to children over 6 months of age were 1.2 mSv, 52 mGy and 33 mGy, respectively, and the corresponding doses to younger children were 3.2 mSv, 60 mGy and 48 mGy. The effective dose per CT examination varied by a factor of 64. None of the children was exposed to doses known to cause deterministic effects. However, since the threshold for radiation-induced damage is not known with certainty, alternative modalities such as US and MRI should be used whenever possible. (orig.)

  10. A novel microneedle array for the treatment of hydrocephalus.

    Science.gov (United States)

    Oh, Jonghyun; Liu, Kewei; Medina, Tim; Kralick, Francis; Noh, Hongseok Moses

    2014-06-01

    We present a microfabricated 10 by 10 array of microneedles for the treatment of a neurological disease called communicating hydrocephalus. Together with the previously reported microvalve array, the current implantable microneedle array completes the microfabricated arachnoid granulations (MAGs) that mimic the function of normal arachnoid granulations (AGs). The microneedle array was designed to enable the fixation of the MAGs through dura mater membrane in the brain and thus provide a conduit for the flow of cerebrospinal fluid (CSF). Cone-shaped microneedles with hollow channels were fabricated using a series of microfabrication techniques: SU-8 photolithography for tapered geometry, reactive ion etching for sharpening the microneedles, 248 nm deep UV excimer laser machining for creating through-hole inside the microneedles, and metal sputtering for improved rigidity. Puncture tests were conducted using porcine dura mater and the results showed that the fabricated microneedle array is strong enough to pierce the dura mater. The in-vitro biocompatibility test result showed that none of the 100 outlets of the microneedles exposed to the bloodstream were clogged significantly by blood cells. We believe that these test results demonstrate the potential use of the microneedle array as a new treatment of hydrocephalus.

  11. Ventriculoperitoneal shunt insertion for hydrocephalus in human immunodeficiency virus-infected adults: a systematic review and meta-analysis protocol.

    Science.gov (United States)

    Loan, James J M; Mankahla, Ncedile; Meintjes, Graeme; Fieggen, A Graham

    2017-10-16

    Hydrocephalus is a recognised complication of human immunodeficiency virus (HIV)-related opportunistic infections. Symptomatic raised cerebrospinal fluid pressure can be treated with ventriculoperitoneal shunt insertion (VPS). In HIV-infected patients however, there is a concern that VPS might be associated with unacceptably high rates of mortality. We aim to systematically review and appraise published literature to determine reported outcomes and identify predictors of outcome following VPS in relevant subgroups of HIV-infected adults. The following electronic databases will be searched: The Cochrane Central Register of Controlled Trials (CENTRAL), MEDLINE (PubMed), EMBASE, CINAHL (EBSCOhost), LILACS (BIREME), Research Registry ( www.researchregistry.com ), the metaRegister of Controlled Trials (mRCT) ( www.controlled-trials.com ), ClinicalTrials.gov ( www.clinicaltrials.gov ) and OpenSIGLE database. Any randomised studies, cohort studies, case-control studies, interrupted time series or sequential case series reporting survival following VPS in HIV-infected individuals will be included. If high-quality homogenous studies exist, meta-analysis will be conducted to determine 1-, 6- and 12-month mortality with comparison made between underlying aetiologies of hydrocephalus. This study will generate a comprehensive review of VPS in HIV-infected patients for publication. The primary outcome of meta-analysis is 12-month survival. If only low-quality, heterogeneous studies are available, this study will demonstrate this deficiency and will be of value in justifying and aiding the design of future studies. PROSPERO CRD42016052239.

  12. Long-term hydrocephalus alters the cytoarchitecture of the adult subventricular zone

    Science.gov (United States)

    Campos-Ordoñez, Tania; Herranz-Pérez, Vicente; Chaichana, Kaisorn L.; Rincon-Torroella, Jordina; Rigamonti, Daniele; García-Verdugo, Jose M.; Quiñones-Hinojosa, Alfredo; Gonzalez-Perez, Oscar

    2014-01-01

    Hydrocephalus can develop secondarily to a disturbance in production, flow and/or absorption of cerebrospinal fluid. Experimental models of hydrocephalus, especially subacute and chronic hydrocephalus, are few and limited, and the effects of hydrocephalus on the subventricular zone are unclear. The aim of this study was to analyze the effects of long-term obstructive hydrocephalus on the subventricular zone, which is the neurogenic niche lining the lateral ventricles. We developed a new method to induce hydrocephalus by obstructing the aqueduct of Sylvius in the mouse brain, thus simulating aqueductal stenosis in humans. In 120-day-old rodents (n = 18 per group), the degree of ventricular dilatation and cellular composition of the subventricular zone were studied by immunofluorescence and transmission electron microscopy. In adult patients (age > 18 years), the sizes of the subventricular zone, corpus callosum, and internal capsule were analyzed by magnetic resonance images obtained from patients with and without aqueductal stenosis (n=25 per group). Mice with 60-day hydrocephalus had a reduced number of Ki67+ and doublecortin+ cells on immunofluorescence, as well as decreased number of neural progenitors and neuroblasts in the subventricular zone on electron microscopy analysis as compared to non-hydrocephalic mice. Remarkably, a number of extracellular matrix structures (fractones) contacting the ventricular lumen and blood vessels were also observed around the subventricular zone in mice with hydrocephalus. In humans, the widths of the subventricular zone, corpus callosum, and internal capsule in patients with aqueductal stenosis were significantly smaller than age and gender-matched patients without aqueductal stenosis. In summary, supratentorial hydrocephalus reduces the proliferation rate of neural progenitors and modifies the cytoarchitecture and extracellular matrix compounds of the subventricular zone. In humans, this similar process reduces the

  13. [Hydrocephalus Associated with Small Clinoidal Meningioma that Resolved after Tumor Removal:A Case Report].

    Science.gov (United States)

    Fujiwara, Hidemoto; Aiba, Toyotaka; Watanabe, Toru; Hiraishi, Tetsuya; Fujii, Yukihiko

    2016-12-01

    Small meningiomas causing hydrocephalus without obstruction of the ventricular system are rare. Herein, we report a case of small clinoidal meningioma with communicating hydrocephalus, which resolved after tumor removal. A 70-year-old woman presented with a 1-month history of memory disturbance followed by gait disturbance. MR images revealed a right clinoidal meningioma, 2 cm in diameter, and dilatation of the ventricles suggesting communicating hydrocephalus. The cerebrospinal fluid(CSF)pressure was 130 mmH2O, as determined via a lumbar puncture. High concentrations of protein(65mg/dL)were detected in the lumbar CSF. The tumor was completely removed via a frontotemporal craniotomy. Higher protein concentrations(94mg/dL)were detected in the CSF obtained intraoperatively from the sylvian cistern. The histopathological diagnosis was meningothelial meningioma. The patient's symptoms improved markedly after surgery. Postoperative MR images revealed resolution of the hydrocephalus. The lumbar CSF protein concentration returned to normal(43mg/dL). Neither tumor recurrence nor progression of hydrocephalus has been observed for 4 years. Communicating hydrocephalus, associated with a small meningioma at the supratentorial region, has not been described. Previous studies have shown that patients with meningioma may develop communicating hydrocephalus after tumor removal or stereotactic radiosurgery. Thus, it is interesting that the small supratentorial meningioma in our case developed communicating hydrocephalus without any therapeutic intervention. Considering the CSF protein concentration, we speculate that the hydrocephalus was the result of CSF malabsorption associated with high CSF protein concentration and CSF pathway obstruction at the suprasellar cistern caused by the tumor.

  14. Demographic features of subjects with congenital glaucoma

    Science.gov (United States)

    Tamçelik, Nevbahar; Atalay, Eray; Bolukbasi, Selim; Çapar, Olgu; Ozkok, Ahmet

    2014-01-01

    Context: Congenital glaucoma is a potentially blinding ocular disease of the childhood. Identification of the possible associated risk factors and may be helpful for prevention or early detection of this public health problem. Aims: To demonstrate the demographic features of congenital glaucoma subjects. Setting and Design: The charts of congenital glaucoma patients referred to Tamcelik Glaucoma Center were retrospectively reviewed through the dates of 2000 and 2013. Materials and Methods: Analyzed data included diagnosis, age at first presentation, symptoms at first presentation, laterality of the disease, sex, presence of consanguinity, family history of congenital glaucoma, maturity of the fetus at delivery, and maternal age at conception. Statistical Analysis Used: Statistical Package for Social Sciences (SPSS) version 19.0 by IBM (SPSS Inc, Chicago, Illinois, USA) was used to compare the mean of continuous variables with Student's t-test and analysis of variance (ANOVA) and χ2 test was used to test differences in proportions of categorical variables. Results: The data of 600 eyes of 311 patients were analyzed. The distribution of primary and secondary congenital glaucoma among the patients were 63.3% (n = 197) and 36.7% (n = 114), respectively. Of the 311 patients, 57.2% (n = 178) were male and 42.8% (n = 133) were female. The overall frequency of bilateral disease was 92.3% (n = 287). Overall rate of consanguinity and positive family history was 45.3% (n = 141) and 21.2% (n = 66), respectively. Conclusions: Bilateral disease in this study was more common than previously reported studies. Positive family history was more frequent in primary congenital glaucoma although not statistically significant. PMID:24881602

  15. Congenital orbital teratoma.

    Science.gov (United States)

    Aiyub, Shereen; Chan, Wengonn; Szetu, John; Sullivan, Laurence J; Pater, John; Cooper, Peter; Selva, Dinesh

    2013-12-01

    We present a case of mature congenital orbital teratoma managed with lid-sparing exenteration and dermis fat graft. This is a case report on the management of congenital orbital teratoma. A full-term baby was born in Fiji with prolapsed right globe which was surrounded by a nonpulsatile, cystic mass. Clinical and imaging features were consistent with congenital orbital teratoma. Due to limited surgical expertise, the patient was transferred to Adelaide, Australia for further management. The patient underwent a lid-sparing exenteration with frozen section control of the apical margin. A dermis fat graft from the groin was placed beneath the lid skin to provide volume. Histopathology revealed mature tissues from each of the three germ cell layers which confirmed the diagnosis of mature teratoma. We describe the successful use of demis fat graft in socket reconstruction following lid-sparing exenteration for congenital orbital teratoma.

  16. Congenital orbital teratoma

    Directory of Open Access Journals (Sweden)

    Shereen Aiyub

    2013-01-01

    Full Text Available We present a case of mature congenital orbital teratoma managed with lid-sparing exenteration and dermis fat graft. This is a case report on the management of congenital orbital teratoma. A full-term baby was born in Fiji with prolapsed right globe which was surrounded by a nonpulsatile, cystic mass. Clinical and imaging features were consistent with congenital orbital teratoma. Due to limited surgical expertise, the patient was transferred to Adelaide, Australia for further management. The patient underwent a lid-sparing exenteration with frozen section control of the apical margin. A dermis fat graft from the groin was placed beneath the lid skin to provide volume. Histopathology revealed mature tissues from each of the three germ cell layers which confirmed the diagnosis of mature teratoma. We describe the successful use of demis fat graft in socket reconstruction following lid-sparing exenteration for congenital orbital teratoma.

  17. Congenital Constriction Band Syndrome

    OpenAIRE

    Rajesh Gupta, Fareed Malik, Rishabh Gupta, M.A.Basit, Dara Singh

    2008-01-01

    Congenital constriction bands are anomalous bands that encircle a digit or an extremity. Congenitalconstriction band syndrome is rare condition and is mostly associated with other musculoskeletaldisorders.We report such a rare experience.

  18. Congenital anterior urethral diverticulum

    International Nuclear Information System (INIS)

    Jung, Hyun Sub; Chung, Young Sun; Suh, Chee Jang; Won, Jong Jin

    1985-01-01

    Two cases of congenital anterior urethral diverticular which have occurred in a 4 year old and one month old boy are presented. Etiology, diagnostic procedures, and its clinical results are briefly reviewed

  19. Multifocal Congenital Hemangiopericytoma.

    Science.gov (United States)

    Robl, Renata; Carvalho, Vânia Oliveira; Abagge, Kerstin Taniguchi; Uber, Marjorie; Lichtvan, Leniza Costa Lima; Werner, Betina; Mehrdad Nadji, Mehrdad

    2017-01-01

    Congenital hemangiopericytoma (HPC) is a rare mesenchymal tumor with less aggressive behavior and a more favorable prognosis than similar tumors in adults. Multifocal presentation is even less common than isolated HPC and hence its clinical and histologic recognition may be challenging. A newborn infant with multifocal congenital HPC causing severe deformity but with a favorable outcome after chemotherapy and surgical removal is reported. © 2016 Wiley Periodicals, Inc.

  20. Obstructive Hydrocephalus Secondary to Enlarged Virchow-Robin Spaces: A Rare Cause of Pulsatile Tinnitus.

    Science.gov (United States)

    Donaldson, Christopher; Chatha, Gurkirat; Chandra, Ronil V; Goldschlager, Tony

    2017-05-01

    Obstructive hydrocephalus secondary to enlarged Virchow-Robin Spaces (VRS) is a rare entity, with only a few cases reported in the literature. Presenting symptoms vary widely from headaches to dizziness. We report a case of a 31-year-old man who presented with pulsatile tinnitus and magnetic resonance imaging showing obstructive hydrocephalus secondary to tumefactive VRS. After a cerebrospinal fluid diversion procedure in the form of an endoscopic third ventriculostomy, he had almost complete resolution of his symptoms. This is the first case of obstructive hydrocephalus secondary to enlarged VRS, presenting with pulsatile tinnitus. Copyright © 2017 Elsevier Inc. All rights reserved.

  1. Surgery for congenital choanal atresia.

    Science.gov (United States)

    Cedin, Antonio C; Atallah, Alvaro N; Andriolo, Régis B; Cruz, Oswaldo L; Pignatari, Shirley N

    2012-02-15

    Congenital choanal atresia is a rare abnormality characterized by unilateral or bilateral lack of patency of the posterior end of the nasal cavity. With an incidence of 1:5000 to 1:8000 births, it is twice as prevalent in females as it is in males. Surgical procedures aim to provide adequate functional choanal patency and a low rate of restenosis, avoid harm to any structure in development, enable shorter surgery and hospitalization times, and minimize morbidity and mortality. To evaluate the effectiveness and safety of the available surgical techniques for the treatment of congenital choanal atresia in patients with unilateral and bilateral atresia. We searched the Cochrane Ear, Nose and Throat Disorders Group Trials Register; the Cochrane Central Register of Controlled Trials (CENTRAL); PubMed; EMBASE; CINAHL; Web of Science; BIOSIS Previews; Cambridge Scientific Abstracts; ISRCTN and additional sources for published and unpublished trials. The date of the search was 31 January 2011. We planned to include parallel randomized or quasi-randomized controlled trials testing surgical approaches for the treatment of congenital atresia (irrespective of gender and age) that evaluated normal/adequate respiratory function (self reported or preserved nasal airway) and restenosis as the main primary outcomes. We did not consider reoperation and non-congenital atresia (e.g. traumatic, iatrogenic atresias) for inclusion. Three review authors independently assessed the titles and abstracts of the identified articles to determine potential relevance. For dichotomous and continuous variables, we planned to calculate risk ratios (relative risks; RR) and mean differences (MD) with 95% confidence intervals (CI), respectively. We planned to use the random-effects model since we were expecting substantial clinical and methodological heterogeneity. No randomized controlled trials were identified. From the 120 reports retrieved using our search strategy, 46 primary studies had the

  2. Normal pressure hydrocephalus. Influences on cerebral hemodynamic and cerebrospinal fluid pressure--chemical autoregulation

    International Nuclear Information System (INIS)

    Meyer, J.S.; Tachibana, H.; Hardenberg, J.P.; Dowell, R.E. Jr.; Kitagawa, Y.; Mortel, K.F.

    1984-01-01

    Blood flow in the cerebral gray matter was measured in normal pressure hydrocephalus and Alzheimer disease by 133Xe inhalation. Flow values in the frontal and temporal gray matter increased after lowering cerebrospinal fluid (CSF) pressure by lumbar puncture in normal pressure hydrocephalus (p less than 0.05) and also after shunting. One case with cerebral complications did not improve clinically. In Alzheimer disease the reverse (decreases in flow in the gray matter) occurred after removal of CSF. Normal pressure hydrocephalus was associated with impaired cerebral vasomotor responsiveness during 100% oxygen and 5% carbon dioxide inhalation. This complication was restored toward normal after CSF removal and/or shunting. Cerebral blood flow measurements appear to be useful for confirming the diagnosis of normal pressure hydrocephalus and predicting the clinical benefit from shunting

  3. Multiloculated hydrocephalus: a review of current problems in classification and treatment

    DEFF Research Database (Denmark)

    Andresen, Morten; Juhler, Marianne

    2012-01-01

    PURPOSE: Loculated hydrocephalus is a condition in which discrete fluid-filled compartments form in or in relation to the ventricular system of the brain. Both uni- and multiloculated variants exist, with marked differences in outcome. However, several competing and seemingly interchangeable...... of Systematic Reviews, and the U.S. NIH ClinicalTrials.gov database was carried out with the search terms: "multicystic," "multiloculated," "multicompartment," "uniloculated," and "loculated." All were used in conjunction with the search term "hydrocephalus." RESULTS: A single study with a control group......, evidence is in favor of the neuroendoscopic approach. CONCLUSIONS: In order to ensure a consistent nomenclature as well as to guide future research, we propose a new system of classification for loculated hydrocephalus. It acknowledges the differences between uniloculated and multiloculated hydrocephalus...

  4. Valved or valveless ventriculoperitoneal shunting in the treatment of post-haemorrhagic hydrocephalus

    DEFF Research Database (Denmark)

    Andreasen, Trine Hjorslev; Holst, Anders Vedel; Lilja, Alexander

    2016-01-01

    BACKGROUND: Implant infection and obstruction are major complications for ventriculoperitoneal shunts in patients with post-haemorrhagic hydrocephalus. In an effort to (1) reduce the incidence of these complications, (2) reduce the rate of shunt failure and (3) shorten the duration of neurosurgical...... hospitalisation, we have implemented valveless ventriculoperitoneal shunts at our department for adult patients with post-haemorrhagic hydrocephalus and haemorrhagic cerebrospinal fluid at the time of shunt insertion. METHODS: All adult patients (>18 years old) treated for post-haemorrhagic hydrocephalus.......3 %, p = 0.02), but a higher rate of overdrainage (10.3 % vs 2.6 %, p = 0.04). CONCLUSION: The use of a valveless shunting for patients with post-haemorrhagic hydrocephalus results in shorter duration of neurosurgical hospitalisation and lower rate of shunt infection, although these advantages should...

  5. Increased self-diffusion of brain water in hydrocephalus measured by MR imaging

    DEFF Research Database (Denmark)

    Gideon, P; Thomsen, C; Gjerris, F

    1994-01-01

    We used MR imaging to measure the apparent brain water self-diffusion in 5 patients with normal pressure hydrocephalus (NPH), in 2 patients with high pressure hydrocephalus (HPH), and in 8 age-matched controls. In all patients with NPH significant elevations of the apparent diffusion coefficients...... white matter, and in one patient reexamined one year after surgery, ADCs were unchanged in nearly all brain regions. The increased ADC values in hydrocephalus patients may be caused by factors such as changes in myelin-associated bound water, increased Virchow-Robin spaces, and increased extracellular...... brain water fraction. For further studies of brain water diffusion in hydrocephalus patients, echo-planar imaging techniques with imaging times of a few seconds may be valuable....

  6. Congenital anomalies among live births in a polluted area. A ten-year retrospective study

    Directory of Open Access Journals (Sweden)

    Gianicolo Emilio Antonio Luca

    2012-12-01

    Full Text Available Abstract Background Congenital anomalies and their primary prevention are a crucial public health issue. This work aimed to estimate the prevalence of congenital anomalies in Brindisi, a city in southeastern Italy at high risk of environmental crisis. Methods This research concerned newborns up to 28 days of age, born between 2001 and 2010 to mothers resident in Brindisi and discharged with a diagnosis of congenital anomaly. We classified cases according to the coding system adopted by the European Network for the Surveillance of Congenital Anomalies (EUROCAT. Prevalence rates of congenital anomalies in Brindisi were compared with those reported by EUROCAT. Logistic regression models were adapted to evaluate the association between congenital anomalies and municipality of residence of the mother during pregnancy. Results Out of 8,503 newborns we recorded 194 subjects with congenital anomalies (228.2/10,000 total births, 1.2 times higher than the one reported by the EUROCAT pool of registries. We observed 83 subjects with congenital heart diseases with an excess of 49.1%. Odds Ratios for congenital heart diseases significantly increased for newborns to mothers resident in Brindisi (OR 1.75 CI 95% 1.30-2.35. Conclusions Our findings indicated an increased prevalence of Congenital Anomalies (especially congenital heart diseases in the city of Brindisi. More research is needed in order to analyze the role of factors potentially involved in the causation of congenital anomalies.

  7. [Congenital toxoplasmosis: clinical manifestation, treatment and follow-up] [Article in Italian] • Il neonato con toxoplasmosi congenita: clinica, terapia e follow-up

    Directory of Open Access Journals (Sweden)

    Lina Bollani

    2014-01-01

    Full Text Available Toxoplamosis is a parasitic zoonosis which occurs worldwide, but is prevalent in Europe, South America and Africa. When infection occurs for the first time during pregnancy, mother to child transmission of the parasite can cause congenital toxoplasmosis. Rate of congenital infection ranges from less than 0.1 to approximately 1 per 1,000 live births. The risk of transmission depends on the gestational age at the time of maternal infection. A diagnosis of congenital toxoplasmosis is usually considered in infants who present: hydrocephalus, chorioretinitis, and intracranial calcifications, but this triade is very rare. Approximately 85% of the infants with congenital toxoplasmosis are clinically normal at birth; however, sequelae of infection may become apparent only months or even years later. Chorioretinitis is the main complication of congenital toxoplasmosis, late onset retinal lesions and relapse can appear many years after birth, but the overall ocular prognosis is satisfactory when infection is identified and treated accordingly. Fortunately, serious neonatal forms and severe neurological impairment have become rare, but prompt treatment of children with convulsions, abnormal muscle tone, hydrocephalus, may improve the prognosis and result in almost normal outcome. For infants who have congenital toxoplasmosis, treatment soon after birth for 1 year with pyrimetamine, sulfadiazine and leukoverin led to remarkable resolution of serious, active disease. A long follow-up is necessary to assess the long-term outcome of children and young adults with congenital toxoplasmosis, that is favourable for the majority of cases. Epidemiological surveillance needs to be improved in order to determine the effectiveness of prevention programs.Articoli Selezionati del “3° Convegno Pediatrico del Medio Campidano” · Guspini · 25 Maggio 2013Guest Editor: Roberto Antonucci

  8. The association of congenital neuroblastoma and congenital heart disease

    International Nuclear Information System (INIS)

    Bellah, R.; D'Andrea, A.; Children's Hospital, Boston, MA; Darillis, E.; Fellows, K.E.

    1989-01-01

    Several authors have reported an association between neuroblastoma and congenital heart disease; others contend that, unlike specific wellknown associations between malignancy and congenital defects (Wilm's tumor and aniridia, leukemia and Down's syndrome), no real relationship exists. We present three cases of cyanotic congenital heart disease in which subclinical neuroblastoma was found. We speculate that abnormal neural crest cell migration and development may be a common link between cardiac malformations and congenital neuroblastoma. (orig.)

  9. Congenital malaria in China.

    Directory of Open Access Journals (Sweden)

    Zhi-Yong Tao

    2014-03-01

    Full Text Available BACKGROUND: Congenital malaria, in which infants are directly infected with malaria parasites from their mother prior to or during birth, is a potentially life-threatening condition that occurs at relatively low rates in malaria-endemic regions. It is recognized as a serious problem in Plasmodium falciparum-endemic sub-Saharan Africa, where recent data suggests that it is more common than previously believed. In such regions where malaria transmission is high, neonates may be protected from disease caused by congenital malaria through the transfer of maternal antibodies against the parasite. However, in low P. vivax-endemic regions, immunity to vivax malaria is low; thus, there is the likelihood that congenital vivax malaria poses a more significant threat to newborn health. Malaria had previously been a major parasitic disease in China, and congenital malaria case reports in Chinese offer valuable information for understanding the risks posed by congenital malaria to neonatal health. As most of the literature documenting congenital malaria cases in China are written in Chinese and therefore are not easily accessible to the global malaria research community, we have undertaken an extensive review of the Chinese literature on this subject. METHODS/PRINCIPAL FINDINGS: Here, we reviewed congenital malaria cases from three major searchable Chinese journal databases, concentrating on data from 1915 through 2011. Following extensive screening, a total of 104 cases of congenital malaria were identified. These cases were distributed mainly in the eastern, central, and southern regions of China, as well as in the low-lying region of southwest China. The dominant species was P. vivax (92.50%, reflecting the malaria parasite species distribution in China. The leading clinical presentation was fever, and other clinical presentations were anaemia, jaundice, paleness, diarrhoea, vomiting, and general weakness. With the exception of two cases, all patients

  10. [Hydrocephalus as initial presentation of a spinal cord tumour in a child

    DEFF Research Database (Denmark)

    Jorgensen, L.M.; Nysom, K.; Lavard, L.D.

    2008-01-01

    We report a previously healthy two-year-old girl who initially presented with signs of increased intracranial pressure of vomiting, lethargy and unstable gait. She had communicating hydrocephalus and a ventriculoperitoneal shunt was placed. Two years later the girl developed signs of myelopathy...... and was diagnosed with a spinal cord tumour between Th3 and Th9. We suggest that spinal cord tumour should be considered in patients with increased intracranial pressure or hydrocephalus of unknown origin Udgivelsesdato: 2008/9/15...

  11. Hydrocephalus, skeletal anomalies, and mental disturbances in a mother and three daughters: A new syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Ferlini, A.; Zanetti, A.; Milan, M.; Calzolari, E. [Universita di Ferrara, London (United Kingdom)] [and others

    1995-12-04

    We report on a family in which a mother and her 3 daughters have delayed psychomotor development and/or psychosis, hydrocephalus with white matter alterations, arachnoid cysts, skeletal anomalies consisting of brachydactyly, and Sprengel anomaly. Biochemical and cytogenetic analyses were normal on all 4 patients. The pattern of inheritance, clinical manifestations, and variability of expression suggest that this is a new hydrocephalus syndrome possibly transmitted as an X-linked dominant trait. 24 refs., 6 figs., 1 tab.

  12. Single pulse analysis of intracranial pressure for a hydrocephalus implant.

    Science.gov (United States)

    Elixmann, I M; Hansinger, J; Goffin, C; Antes, S; Radermacher, K; Leonhardt, S

    2012-01-01

    The intracranial pressure (ICP) waveform contains important diagnostic information. Changes in ICP are associated with changes of the pulse waveform. This change has explicitly been observed in 13 infusion tests by analyzing 100 Hz ICP data. An algorithm is proposed which automatically extracts the pulse waves and categorizes them into predefined patterns. A developed algorithm determined 88 %±8 % (mean ±SD) of all classified pulse waves correctly on predefined patterns. This algorithm has low computational cost and is independent of a pressure drift in the sensor by using only the relationship between special waveform characteristics. Hence, it could be implemented on a microcontroller of a future electromechanic hydrocephalus shunt system to control the drainage of cerebrospinal fluid (CSF).

  13. Hydrocephalus after Subarachnoid Hemorrhage: Pathophysiology, Diagnosis, and Treatment

    Directory of Open Access Journals (Sweden)

    Sheng Chen

    2017-01-01

    Full Text Available Hydrocephalus (HCP is a common complication in patients with subarachnoid hemorrhage. In this review, we summarize the advanced research on HCP and discuss the understanding of the molecular originators of HCP and the development of diagnoses and remedies of HCP after SAH. It has been reported that inflammation, apoptosis, autophagy, and oxidative stress are the important causes of HCP, and well-known molecules including transforming growth factor, matrix metalloproteinases, and iron terminally lead to fibrosis and blockage of HCP. Potential medicines for HCP are still in preclinical status, and surgery is the most prevalent and efficient therapy, despite respective risks of different surgical methods, including lamina terminalis fenestration, ventricle-peritoneal shunting, and lumbar-peritoneal shunting. HCP remains an ailment that cannot be ignored and even with various solutions the medical community is still trying to understand and settle why and how it develops and accordingly improve the prognosis of these patients with HCP.

  14. Control volume based hydrocephalus research; analysis of human data

    Science.gov (United States)

    Cohen, Benjamin; Wei, Timothy; Voorhees, Abram; Madsen, Joseph; Anor, Tomer

    2010-11-01

    Hydrocephalus is a neuropathophysiological disorder primarily diagnosed by increased cerebrospinal fluid volume and pressure within the brain. To date, utilization of clinical measurements have been limited to understanding of the relative amplitude and timing of flow, volume and pressure waveforms; qualitative approaches without a clear framework for meaningful quantitative comparison. Pressure volume models and electric circuit analogs enforce volume conservation principles in terms of pressure. Control volume analysis, through the integral mass and momentum conservation equations, ensures that pressure and volume are accounted for using first principles fluid physics. This approach is able to directly incorporate the diverse measurements obtained by clinicians into a simple, direct and robust mechanics based framework. Clinical data obtained for analysis are discussed along with data processing techniques used to extract terms in the conservation equation. Control volume analysis provides a non-invasive, physics-based approach to extracting pressure information from magnetic resonance velocity data that cannot be measured directly by pressure instrumentation.

  15. Pathogenesis of normal-pressure hydrocephalus--preliminary observations

    International Nuclear Information System (INIS)

    Meyer, J.S.; Kitagawa, Y.; Tanahashi, N.; Tachibana, H.; Kandula, P.; Cech, D.A.; Rose, J.E.; Grossman, R.G.

    1985-01-01

    Eight cases with well-documented normal-pressure hydrocephalus were studied prospectively for 6 months by history, neurological examinations, Mini-Mental Status tests, xenon-contrast computed tomography measurements of local cerebral blood flow, and cerebral xenon solubility expressed as partition coefficients. Local cerebral blood flow and local partition coefficients were reduced throughout frontal and temporal lobes, basal ganglia, and thalamus. Cerebrospinal fluid shunting procedures were carried out in seven cases. As a result, local cerebral blood flow and local partition coefficients increased toward normal, particularly in frontal white matter, frontotemporal cortex, and basal ganglia. Ventricular size became reduced and mental status improved. Local partition coefficient values were reduced by increased tissue water because low values confirmed cerebrospinal fluid diffusion into white matter, which resolved after shunting. Patients likely to benefit from shunting, including shunt failures requiring revision, were detected

  16. Treatment of hydrocephalus associated with neurosarcoidosis by multiple shunt placement.

    Science.gov (United States)

    Kim, Sung Hoon; Lee, Sang Weon; Sung, Soon Ki; Son, Dong Wuk

    2012-09-01

    A 31-year-old man was admitted to our hospital due to hydrocephalus with neurosarcoidosis. Ventriculo-peritoneal shunting was performed in the right lateral ventricle with intravenous methylprednisolone. Subsequently, after 4 months, additional ventriculo-peritoneal shunting in the left lateral ventricle was performed due to the enlarged left lateral ventricle and slit-like right lateral ventricle. After 6 months, he was re-admitted due to upward gaze palsy, and magnetic resonance image showed an isolated fourth ventricle with both the inlet and outlet of fourth ventricle obstructed by recurrent neurosarcoidosis. Owing to the difficulty of using an endoscope, we performed neuronavigator-guided ventriculo-peritoneal shunting via the left lateral transcerebellar approach for the treatment of the isolated fourth ventricle with intravenous methyl prednisolone. The patient was discharged with improved neurological status.

  17. Congenital cytomegalovirus infection

    Directory of Open Access Journals (Sweden)

    Katarina Rednak-Paradiž

    2006-11-01

    Full Text Available Background: CMV is the most common agent that causes congenital virus infection. Only 10 % of infected children have symptomatic infection immediately after birth. Signs of central nervous system damage, neurosensory deafness and delayed psychomotor development may manifest as a result of asimptomatic congenital infection later in childhood. In the article we present basic properties of CMV; we describe clinical picture of the congenital infection and possibilities of diagnose and its treatment. We present five children with symptomatic congenital CMV infection that were hospitalized for the period 1992–2002 at the Neonatal department in the University Children’s Hospital in Ljubljana.Conclusions: Identification of infected neonates, especially those with asimptomatic congenital CMV infection, is difficult. Latest incidence of infection in Slovenia is unknown. With new investigations the efficiency of antiviral therapy was discovered but exact indications for therapy are not yet known. CMV vaccine, once available, may ultimately be the best control strategy for this important public health problem. Proper educating women in childbearing age about the risks of CMV and how to avoid disease transmission during pregnancy (hand washing, avoiding mouth-to-mouth contact with preschool children, usage of gloves especially when handling dipers or respiratory secretions are the only control strategies available.

  18. Prevalence of congenital amusia.

    Science.gov (United States)

    Peretz, Isabelle; Vuvan, Dominique T

    2017-05-01

    Congenital amusia (commonly known as tone deafness) is a lifelong musical disorder that affects 4% of the population according to a single estimate based on a single test from 1980. Here we present the first large-based measure of prevalence with a sample of 20 000 participants, which does not rely on self-referral. On the basis of three objective tests and a questionnaire, we show that (a) the prevalence of congenital amusia is only 1.5%, with slightly more females than males, unlike other developmental disorders where males often predominate; (b) self-disclosure is a reliable index of congenital amusia, which suggests that congenital amusia is hereditary, with 46% first-degree relatives similarly affected; (c) the deficit is not attenuated by musical training and (d) it emerges in relative isolation from other cognitive disorder, except for spatial orientation problems. Hence, we suggest that congenital amusia is likely to result from genetic variations that affect musical abilities specifically.

  19. Primary congenital hypothyroidism complicated by persistent severe ...

    African Journals Online (AJOL)

    2013-12-24

    Dec 24, 2013 ... hypothyroidism, there is a general paucity of studies on anaemia in infants ... a physiological adaptation to the decreased tissue ..... patients with Sheehan's syndrome: response to replacement of glucocorticoids and thyroxine ...

  20. Symptomatic Congenital Cytomegalovirus Infection in Children of Seropositive Women

    OpenAIRE

    Ines Mack; Marie-Anne Burckhardt; Marie-Anne Burckhardt; Ulrich Heininger; Friederike Prüfer; Sven Schulzke; Sven Wellmann

    2017-01-01

    Cytomegalovirus (CMV) is the most frequent congenital virus infection worldwide. The risk of congenital CMV (cCMV) transmission is highest in seronegative women who acquire primary CMV infection during pregnancy. A growing body of evidence indicates that secondary CMV infections in pregnant women with preconceptual immunity (either through reactivation of latent virus or re-infection with a new strain of CMV) contribute to a much greater proportion of symptomatic cCMV than was previously thou...

  1. Estimating Global Burden of Disease due to congenital anomaly

    DEFF Research Database (Denmark)

    Boyle, Breidge; Addor, Marie-Claude; Arriola, Larraitz

    2018-01-01

    OBJECTIVE: To validate the estimates of Global Burden of Disease (GBD) due to congenital anomaly for Europe by comparing infant mortality data collected by EUROCAT registries with the WHO Mortality Database, and by assessing the significance of stillbirths and terminations of pregnancy for fetal...... the burden of disease due to congenital anomaly, and thus declining YLL over time may obscure lack of progress in primary, secondary and tertiary prevention....

  2. Magnetic resonance velocity mapping of 3D cerebrospinal fluid flow dynamics in hydrocephalus: preliminary results

    International Nuclear Information System (INIS)

    Stadlbauer, Andreas; Salomonowitz, Erich; Brenneis, Christian; Ungersboeck, Karl; Riet, Wilma van der; Buchfelder, Michael; Ganslandt, Oliver

    2012-01-01

    To investigate the detectability of CSF flow alterations in the ventricular system of patients with hydrocephalus using time-resolved 3D MR velocity mapping. MR velocity mapping was performed in 21 consecutive hydrocephalus patients and 21 age-matched volunteers using a 3D phase-contrast (PC) sequence. Velocity vectors and particle path lines were calculated for visualisation of flow dynamics. CSF flow was classified as ''hypomotile flow'' if it showed attenuated dynamics and as ''hypermotile flow'' if it showed increased dynamics compared with volunteers. Diagnostic efficacy was compared with routine 2D cine PC-MRI. Seven patients showed hypomotile CSF flow: six had non-communicating hydrocephalus due to aqueductal stenosis. One showed oscillating flow between the lateral ventricles after craniotomy for intracranial haemorrhage. Seven patients showed normal flow: six had hydrocephalus ex vacuo due to brain atrophy. One patient who underwent ventriculostomy 10 years ago showed a flow path through the opening. Seven patients showed hypermotile flow: three had normal pressure hydrocephalus, three had dementia, and in one the diagnosis remained unclear. The diagnostic efficacy of velocity mapping was significantly higher except for that of aqueductal stenosis. Our approach may be useful for diagnosis, therapy planning, and follow-up of different kinds of hydrocephalus. (orig.)

  3. Two Hundred Thirty-Six Children With Developmental Hydrocephalus: Causes and Clinical Consequences.

    Science.gov (United States)

    Tully, Hannah M; Ishak, Gisele E; Rue, Tessa C; Dempsey, Jennifer C; Browd, Samuel R; Millen, Kathleen J; Doherty, Dan; Dobyns, William B

    2016-03-01

    Few systematic assessments of developmental forms of hydrocephalus exist. We reviewed magnetic resonance images (MRIs) and clinical records of patients with infancy-onset hydrocephalus. Among 411 infants, 236 had hydrocephalus with no recognizable extrinsic cause. These children were assigned to 1 of 5 subtypes and compared on the basis of clinical characteristics and developmental and surgical outcomes. At an average age of 5.3 years, 72% of children were walking independently and 87% could eat by mouth; in addition, 18% had epilepsy. Distinct patterns of associated malformations and syndromes were observed within each subtype. On average, children with aqueductal obstruction, cysts, and encephaloceles had worse clinical outcomes than those with other forms of developmental hydrocephalus. Overall, 53% of surgically treated patients experienced at least 1 shunt failure, but hydrocephalus associated with posterior fossa crowding required fewer shunt revisions. We conclude that each subtype of developmental hydrocephalus is associated with distinct clinical characteristics, syndromology, and outcomes, suggesting differences in underlying mechanisms. © The Author(s) 2015.

  4. Incidence of Intraventricular Hemorrhage and Post Hemorrhagic Hydrocephalus in Preterm Infants

    Directory of Open Access Journals (Sweden)

    Negar Sajjadian

    2010-07-01

    Full Text Available "nGerminal matrix-intraventricular hemorrhage (IVH is the most common variety of neonatal intracranial hemorrhage and is characteristics of the premature infant. The importance of the lesion relates not only to its high incidence but to their attendant complications (IC: hydrocephalus. Brain sonography is the procedure of choice in diagnosis of germinal matrix- intraventricular hemorrhage and hydrocephalus. In this study we have used brain sonography for detection of intraventricular hemorrhage and post hemorrhagic hydrocephalus and their incidences. The studied population was consisted of premature neonate (birth weight equal or less than 1500g and gestational age equal or less than 37 weeks who admitted in Mofid Hospital NICU (Tehran, Iran during a one year period. For all neonate (including criteria brain sonography in first week of life was done and in presence of IVH, serial Brain sonography was done weekly for detection of hydrocephalus. A total of 57 neonate entered the study. Intraventicular-germinal matrix hemorrhage was seen in 64.4% (35 patients. Forty percent of patients with intraventricular-germinal matrix hemorrhage had grade I, 11% grade II, 25.7% grade III, 2.8% grade VI. Hydrocephalus was detected in 20 percent of patients who had intraventricular-germinal matrix hemorrhage. That incidence of IVH in our study in comparison with other area and situation is higher. Hydrocephaly had direct relation with severity of IVH. This shows that with control of risk factor of IVH, we can control Post hemorrhagic hydrocephalus.

  5. Hydrocephalus: the role of cerebral aquaporin-4 channels and computational modeling considerations of cerebrospinal fluid.

    Science.gov (United States)

    Desai, Bhargav; Hsu, Ying; Schneller, Benjamin; Hobbs, Jonathan G; Mehta, Ankit I; Linninger, Andreas

    2016-09-01

    Aquaporin-4 (AQP4) channels play an important role in brain water homeostasis. Water transport across plasma membranes has a critical role in brain water exchange of the normal and the diseased brain. AQP4 channels are implicated in the pathophysiology of hydrocephalus, a disease of water imbalance that leads to CSF accumulation in the ventricular system. Many molecular aspects of fluid exchange during hydrocephalus have yet to be firmly elucidated, but review of the literature suggests that modulation of AQP4 channel activity is a potentially attractive future pharmaceutical therapy. Drug therapy targeting AQP channels may enable control over water exchange to remove excess CSF through a molecular intervention instead of by mechanical shunting. This article is a review of a vast body of literature on the current understanding of AQP4 channels in relation to hydrocephalus, details regarding molecular aspects of AQP4 channels, possible drug development strategies, and limitations. Advances in medical imaging and computational modeling of CSF dynamics in the setting of hydrocephalus are summarized. Algorithmic developments in computational modeling continue to deepen the understanding of the hydrocephalus disease process and display promising potential benefit as a tool for physicians to evaluate patients with hydrocephalus.

  6. Magnetic resonance velocity mapping of 3D cerebrospinal fluid flow dynamics in hydrocephalus: preliminary results

    Energy Technology Data Exchange (ETDEWEB)

    Stadlbauer, Andreas [Landesklinikum St. Poelten, MR Physics Group, Department of Radiology, St. Poelten (Austria); University of Erlangen-Nuremberg, Department of Neurosurgery, Erlangen (Germany); Salomonowitz, Erich [Landesklinikum St. Poelten, MR Physics Group, Department of Radiology, St. Poelten (Austria); Brenneis, Christian [Landesklinikum St. Poelten, Department of Neurology, St. Poelten (Austria); Ungersboeck, Karl [Landesklinikum St. Poelten, Department of Neurosurgery, St. Poelten (Austria); Riet, Wilma van der [European MRI Consultancy (EMRIC), Strasbourg (France); Buchfelder, Michael; Ganslandt, Oliver [University of Erlangen-Nuremberg, Department of Neurosurgery, Erlangen (Germany)

    2012-01-15

    To investigate the detectability of CSF flow alterations in the ventricular system of patients with hydrocephalus using time-resolved 3D MR velocity mapping. MR velocity mapping was performed in 21 consecutive hydrocephalus patients and 21 age-matched volunteers using a 3D phase-contrast (PC) sequence. Velocity vectors and particle path lines were calculated for visualisation of flow dynamics. CSF flow was classified as ''hypomotile flow'' if it showed attenuated dynamics and as ''hypermotile flow'' if it showed increased dynamics compared with volunteers. Diagnostic efficacy was compared with routine 2D cine PC-MRI. Seven patients showed hypomotile CSF flow: six had non-communicating hydrocephalus due to aqueductal stenosis. One showed oscillating flow between the lateral ventricles after craniotomy for intracranial haemorrhage. Seven patients showed normal flow: six had hydrocephalus ex vacuo due to brain atrophy. One patient who underwent ventriculostomy 10 years ago showed a flow path through the opening. Seven patients showed hypermotile flow: three had normal pressure hydrocephalus, three had dementia, and in one the diagnosis remained unclear. The diagnostic efficacy of velocity mapping was significantly higher except for that of aqueductal stenosis. Our approach may be useful for diagnosis, therapy planning, and follow-up of different kinds of hydrocephalus. (orig.)

  7. Analysis of risk factors for hydrocephalus development in newborn infants with germinal matrix hemorrhage.

    Science.gov (United States)

    Romero, L; Ros, B; Arráez, M A; Ríus, F; González, L; Martín, A; Carrasco, A; Segura, M

    2015-10-01

    The aim of this study was to analyze risk factors for the development of hydrocephalus in newborn infants with germinal matrix (GM) hemorrhage. The study comprised 271 patients admitted to Carlos Haya University Hospital in Malaga with GM hemorrhage. The following data were recorded: gestational age, gender, twin birth, head circumference at birth, weight at birth, and Papile grade. Severe obstetrical (abruption, chorioamnionitis, pregnancy-induced hypertension, tocolytic treatment) and neonatal disorders (respiratory distress syndrome, neonatal infection, coagulation disorder, patent ductus arteriosus, necrotizing enterocolitis) were also recorded. Symptomatic hydrocephalus was diagnosed in the event of a progressive increase in head circumference and ventricular indices requiring shunting. Of the 271 patients, 139 (51%) developed posthemorrhagic ventriculomegaly; 47 patients (17%) developed symptomatic hydrocephalus and needed shunt implantation. We found a significant relationship between the development of symptomatic hydrocephalus and Papile grade, lower gestational age, lower birth weight, twin birth, and neonatal infection. Awareness of risk factors for the development of hydrocephalus in newborn infants with GM hemorrhage should be emphasized in order to enable an early diagnosis of ventriculomegaly and symptomatic hydrocephalus and thus make a correct therapeutic decision.

  8. Social media networking in pediatric hydrocephalus: a point-prevalence analysis of utilization.

    Science.gov (United States)

    Elkarim, Ghassan Awad; Alotaibi, Naif M; Samuel, Nardin; Wang, Shelly; Ibrahim, George M; Fallah, Aria; Weil, Alexander G; Kulkarni, Abhaya V

    2017-08-01

    OBJECTIVE A recent survey has shown that caregivers of children with shunt-treated hydrocephalus frequently use social media networks for support and information gathering. The objective of this study is to describe and assess social media utilization among users interested in hydrocephalus. METHODS Publicly accessible accounts and videos dedicated to the topic of hydrocephalus were comprehensively searched across 3 social media platforms (Facebook, Twitter, and YouTube) throughout March 2016. Summary statistics were calculated on standard metrics of social media popularity. A categorization framework to describe the purpose of pages, groups, accounts, channels, and videos was developed following the screening of 100 titles. Categorized data were analyzed using nonparametric tests for statistical significance. RESULTS The authors' search identified 30 Facebook pages, 213 Facebook groups, 17 Twitter accounts, and 253 YouTube videos. These platforms were run by patients, caregivers, nonprofit foundations, and patient support groups. Most accounts were from the United States (n = 196), followed by the United Kingdom (n = 31), Canada (n = 17), India (n = 15), and Germany (n = 12). The earliest accounts were created in 2007, and a peak of 65 new accounts were created in 2011. The total number of users in Facebook pages exceeded those in Facebook groups (p social media use in the topic of hydrocephalus. Users interested in hydrocephalus seek privacy for support communications and are attracted to treatment procedure and surgical products videos. These findings provide insight into potential avenues of hydrocephalus outreach, support, or advocacy in social media.

  9. Nitrofurantoin and congenital abnormalities

    DEFF Research Database (Denmark)

    Czeizel, A.E.; Rockenbauer, M.; Sørensen, Henrik Toft

    2001-01-01

    or fetuses with Down’s syndrome (patient controls), 23 (2.8%) pregnant women were treated with nitrofurantoin. The above differences between population controls and cases may be connected with recall bias, because the case-control pair analysis did not indicate a teratogenic potential of nitrofurantoin use......Objective: To study human teratogenic potential of oral nitrofurantoin treatment during pregnancy. Materials and Methods: Pair analysis of cases with congenital abnormalities and matched population controls in the population-based dataset of the Hungarian Case-Control Surveillance of Congenital...... during the second and the third months of gestation, i.e. in the critical period for major congenital abnormalities. Conclusion: Treatment with nitrofurantoin during pregnancy does not present detectable teratogenic risk to the fetus....

  10. Congenital syphilis: literature review

    Directory of Open Access Journals (Sweden)

    Eduardo Chaida Sonda

    2013-01-01

    Full Text Available Syphilis is an infectious disease caused by Treponema pallidum and has high rates of vertical transmission, which can reach 100% depending on the maternal disease and stage of pregnancy. The diagnosis of gestational syphilis is simple and its screening is required during the prenatal period. However, this disease still has a high prevalence, affecting two million pregnant women worldwide. The procedures performed in newborns with congenital syphilis represent costs that are three-fold higher than the ones spent with a baby without this infection. The treatment is generally carried out with penicillin and must be extended to sexual partners. Inadequate or lack of treatment of congenital syphilis can result in miscarriage, premature birth, acute complications and other fetal sequelae. KEYWORDS: Congenital syphilis. Treponema pallidum. Vertical transmission.

  11. Congenital cataract screening

    Directory of Open Access Journals (Sweden)

    Zhale Rajavi

    2016-01-01

    Full Text Available Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (1 year is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender.

  12. Congenital toxoplasmosis presenting as central diabetes insipidus in an infant: a case report.

    Science.gov (United States)

    Mohamed, Sarar; Osman, Abdaldafae; Al Jurayyan, Nasir A; Al Nemri, Abdulrahman; Salih, Mustafa A M

    2014-03-28

    Congenital toxoplasmosis has a wide range of presentation at birth varying from severe neurological features such as hydrocephalus and chorioretinitis to a well appearing baby, who may develop complications late in infancy. While neuroendocrine abnormalities associated with congenital toxoplasmosis are uncommon, isolated central diabetes insipidus is extremely rare. Here, we report on a female infant who presented with fever, convulsions, and polyuria. Examination revealed weight and length below the 3rd centile along with signs of severe dehydration. Fundal examination showed bilateral chorioretinitis. This infant developed hypernatremia together with increased serum osmolality and decreased both urine osmolality and specific gravity consistent with central diabetes insipidus. Serology for toxoplasma specific immunoglobulin M was high for both the mother and the baby and polymerase chain reaction for toxoplasma deoxyribonucleic acid was positive in the infant confirming congenital toxoplasmosis. Brain computerized tomography scans demonstrated ventriculomegaly associated with cerebral and cortical calcifications. Fluid and electrolyte abnormalities responded to nasal vasopressin therapy. This report highlights central diabetes inspidus as a rare presentation of congenital toxoplasmosis.

  13. Alteration of brain viscoelasticity after shunt treatment in normal pressure hydrocephalus

    Energy Technology Data Exchange (ETDEWEB)

    Freimann, Florian Baptist; Sprung, Christian [Charite - University Medicine Berlin, Campus Virchow-Klinikum, Neurosurgical Department, Berlin (Germany); Streitberger, Kaspar-Josche; Klatt, Dieter; Sack, Ingolf [Charite - University Medicine Berlin, Campus Charite Mitte, Department of Radiology, Berlin (Germany); Lin, Kui; McLaughlin, Joyce [Rensselaer Polytechnic Institute, Mathematics Department, Troy, NY (United States); Braun, Juergen [Charite - University Medicine Campus Benjamin Franklin, Institute of Medical Informatics, Berlin (Germany)

    2012-03-15

    Normal pressure hydrocephalus (NPH) represents a chronic neurological disorder with increasing incidence. The symptoms of NPH may be relieved by surgically implanting a ventriculoperitoneal shunt to drain excess cerebrospinal fluid. However, the pathogenesis of NPH is not yet fully elucidated, and the clinical response of shunt treatment is hard to predict. According to current theories of NPH, altered mechanical properties of brain tissue seem to play an important role. Magnetic resonance elastography (MRE) is a unique method for measuring in vivo brain mechanics. In this study cerebral MRE was applied to test the viscoelastic properties of the brain in 20 patients with primary (N = 14) and secondary (N = 6) NPH prior and after (91 {+-} 16 days) shunt placement. Viscoelastic parameters were derived from the complex modulus according to the rheological springpot model. This model provided two independent parameters {mu} and {alpha}, related to the inherent rigidity and topology of the mechanical network of brain tissue. The viscoelastic parameters {mu} and {alpha} were found to be decreased with -25% and -10%, respectively, compared to age-matched controls (P < 0.001). Interestingly, {alpha} increased after shunt placement (P < 0.001) to almost normal values whereas {mu} remained symptomatically low. The results indicate the fundamental role of altered viscoelastic properties of brain tissue during disease progression and tissue repair in NPH. Clinical improvement in NPH is associated with an increasing complexity of the mechanical network whose inherent strength, however, remains degraded. (orig.)

  14. Alteration of brain viscoelasticity after shunt treatment in normal pressure hydrocephalus

    International Nuclear Information System (INIS)

    Freimann, Florian Baptist; Sprung, Christian; Streitberger, Kaspar-Josche; Klatt, Dieter; Sack, Ingolf; Lin, Kui; McLaughlin, Joyce; Braun, Juergen

    2012-01-01

    Normal pressure hydrocephalus (NPH) represents a chronic neurological disorder with increasing incidence. The symptoms of NPH may be relieved by surgically implanting a ventriculoperitoneal shunt to drain excess cerebrospinal fluid. However, the pathogenesis of NPH is not yet fully elucidated, and the clinical response of shunt treatment is hard to predict. According to current theories of NPH, altered mechanical properties of brain tissue seem to play an important role. Magnetic resonance elastography (MRE) is a unique method for measuring in vivo brain mechanics. In this study cerebral MRE was applied to test the viscoelastic properties of the brain in 20 patients with primary (N = 14) and secondary (N = 6) NPH prior and after (91 ± 16 days) shunt placement. Viscoelastic parameters were derived from the complex modulus according to the rheological springpot model. This model provided two independent parameters μ and α, related to the inherent rigidity and topology of the mechanical network of brain tissue. The viscoelastic parameters μ and α were found to be decreased with -25% and -10%, respectively, compared to age-matched controls (P < 0.001). Interestingly, α increased after shunt placement (P < 0.001) to almost normal values whereas μ remained symptomatically low. The results indicate the fundamental role of altered viscoelastic properties of brain tissue during disease progression and tissue repair in NPH. Clinical improvement in NPH is associated with an increasing complexity of the mechanical network whose inherent strength, however, remains degraded. (orig.)

  15. Attention lapses in children with spina bifida and hydrocephalus and children with attention-deficit/hyperactivity disorder.

    Science.gov (United States)

    De la Torre, Gabriel G; Martin, Alba; Cervantes, Elizabeth; Guil, Rocio; Mestre, Jose M

    2017-08-01

    Attentional lapses are usually defined as temporary and often brief shifts of attention away from some primary task to unrelated internal information processing. This study addressed the incidence of attention lapses and differences in attentional functioning in 30 children with attention-deficit/hyperactivity disorder (ADHD), 26 healthy children, and 29 children with spina bifida myelomeningocele and hydrocephalus (SBH). Assessments were conducted using computerized tonic and phasic attention tests, the Symbol Digit Modalities Test (SDMT), and the Trail Making Test Form B (TMT-B). The group with SBH differed from normal controls on cognitive measures of attention and executive functions. The ADHD group obtained lower scores than the SBH group and healthy children. ANOVA results showed that there was an effect of shunt revisions and shunt-related infections on neuropsychological performance. Lapses of attention together with reaction time may thus represent important factors for the understanding of cognitive deficits in SBH.

  16. Congenital maxillary double lip

    Directory of Open Access Journals (Sweden)

    Dinesh Singh Chauhan

    2012-01-01

    Full Text Available Double lip, also referred to as "macrocheilia," is a rare anomaly which affects the upper lip more commonly than the lower lip. It consists of a fold of excess or redundant hypertrophic tissue on the mucosal side of the lip. The congenital double lip is believed to be present at birth and becomes more prominent after eruption of teeth. It affects esthetics and also interferes with speech and mastication. Simple surgical excision produces good functional and cosmetic results. We report a case of a non-syndromic congenital maxillary double lip in a 21-year-old male patient.

  17. Congenital hearing impairment

    Energy Technology Data Exchange (ETDEWEB)

    Robson, Caroline D. [Children' s Hospital and Harvard Medical School, Division of Neuroradiology, Department of Radiology, Boston, MA (United States)

    2006-04-15

    Establishing the etiology of congenital hearing impairment can significantly improve treatment for certain causes of hearing loss and facilitates genetic counseling. High-resolution CT and MRI have contributed to the evaluation and management of hearing impairment. In addition, with the identification of innumerable genetic loci and genetic defects involved in hearing loss, genetic testing has emerged as an invaluable tool in the assessment of hearing impairment. Some of the common forms of congenital hearing loss are reviewed and their imaging features illustrated. (orig.)

  18. Congenital spinal malformations

    International Nuclear Information System (INIS)

    Ertl-Wagner, B.B.; Reiser, M.F.

    2001-01-01

    Congenital spinal malformations form a complex and heterogeneous group of disorders whose pathogenesis is best explained embryologically. Radiologically, it is important to formulate a diagnosis when the disorder first becomes symptomatic. However, it is also crucial to detect complications of the disorder or of the respective therapeutic interventions in the further course of the disease such as hydromyelia or re-tethering after repair of a meningomyelocele. Moreover, once a congenital spinal malformation is diagnosed, associated malformations should be sought after. A possible syndromal classification such as in OEIS- or VACTERL-syndromes should also be considered. (orig.) [de

  19. Congenital hearing impairment

    International Nuclear Information System (INIS)

    Robson, Caroline D.

    2006-01-01

    Establishing the etiology of congenital hearing impairment can significantly improve treatment for certain causes of hearing loss and facilitates genetic counseling. High-resolution CT and MRI have contributed to the evaluation and management of hearing impairment. In addition, with the identification of innumerable genetic loci and genetic defects involved in hearing loss, genetic testing has emerged as an invaluable tool in the assessment of hearing impairment. Some of the common forms of congenital hearing loss are reviewed and their imaging features illustrated. (orig.)

  20. Congenital laryngeal anomalies,

    Directory of Open Access Journals (Sweden)

    Michael J. Rutter

    2014-12-01

    Full Text Available Introduction: It is essential for clinicians to understand issues relevant to the airway management of infants and to be cognizant of the fact that infants with congenital laryngeal anomalies are at particular risk for an unstable airway. Objectives: To familiarize clinicians with issues relevant to the airway management of infants and to present a succinct description of the diagnosis and management of an array of congenital laryngeal anomalies. Methods: Revision article, in which the main aspects concerning airway management of infants will be analyzed. Conclusions: It is critical for clinicians to understand issues relevant to the airway management of infants.

  1. Congenital Heart Defects and CCHD

    Science.gov (United States)

    ... and more. Stony Point, NY 10980 Close X Home > Complications & Loss > Birth defects & other health conditions > Congenital heart defects and ... in congenital heart defects. You have a family history of congenital heart ... syndrome or VCF. After birth Your baby may be tested for CCHD as ...

  2. Recent Advances in Central Congenital Hypothyroidism

    OpenAIRE

    Schoenmakers, Nadia Adham; Alatzoglou, Kyriaki S; Chatterjee, Vengalil Krishna; Dattani, Mehul T

    2015-01-01

    Central Congenital Hypothyroidism (CCH) may occur in isolation, or more frequently in combination with additional pituitary hormone deficits with or without associated extrapituitary abnormalities. Although uncommon, it may be more prevalent than previously thought, affecting up to 1:16000 neonates in the Netherlands. Since TSH is not elevated, CCH will evade diagnosis in primary, TSH-based, CH screening programs and delayed detection may result in neurodevelopmental delay due to untreated ne...

  3. Recent advances in central congenital hypothyroidism

    OpenAIRE

    Schoenmakers, Nadia; Alatzoglou, Kyriaki S; Chatterjee, V Krishna; Dattani, Mehul T

    2015-01-01

    Central congenital hypothyroidism (CCH) may occur in isolation, or more frequently in combination with additional pituitary hormone deficits with or without associated extrapituitary abnormalities. Although uncommon, it may be more prevalent than previously thought, affecting up to 1:16?000 neonates in the Netherlands. Since TSH is not elevated, CCH will evade diagnosis in primary, TSH-based, CH screening programs and delayed detection may result in neurodevelopmental delay due to untreated n...

  4. Causes of congenital unilateral pulmonary hypoplasia

    International Nuclear Information System (INIS)

    Currarino, G.; Williams, B.; Children's Medical Center, Dallas, TX

    1985-01-01

    A review of the roentgenograms and clinical records of 33 children with primary congenital underdevelopment of one lung showed that 9 patients had simple pulmonary hypoplasia, 8 had anomalous venous return to the right atrium or the inferior vena cava (scimitar syndrome), 7 had an absence of ipsilateral pulmonary artery, 7 had an accessory diaphragm, and 2 had a pulmonary sequestration adjacent to a small diaphragmatic hernia. (orig.)

  5. Congenital Amegakaryocytic Thrombocytopenic Purpura (CAMT)

    International Nuclear Information System (INIS)

    Ghauri, R. I.; Naveed, M.; Mannan, J.

    2014-01-01

    Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare, autosomal recessive disorder induced by mutations of the gene coding for thrombopoietin (TPO) receptor (c-MPL) despite high levels of serum TPO. Patients initially present with isolated thrombocytopenia that subsequently progresses into pancytopenia. Although the mechanisms leading to aplasia are unknown, the age of onset has been reported to depend on the severity of the c-MPL functional defect. The primary treatment for CAMT is bone marrow transplantation. This report describes a newborn girl who presented to us with symptoms of sepsis but septic profile came negative except thrombocytopenia. Bone marrow biopsy was done for thrombocytopenia which revealed amegakaryocytic thrombocytopenia. She was given prednisolone. (author)

  6. Severe congenital neutropenia

    DEFF Research Database (Denmark)

    Borregaard, Niels

    2014-01-01

    In this issue of Blood, Tidwell et al1 demonstrate that mutations in the start codon (protein synthesis is initiated at the codon ATG) of neutrophil elastase (ELANE) result in the production of N-terminally truncated elastase, which mislocates to the nucleus and results in severe congenital neutr...... neutropenia (SCN)....

  7. Giant Congenital Melanocytic Nevus

    DEFF Research Database (Denmark)

    Rasmussen, Bo Sonnich; Henriksen, Trine Foged; Kølle, Stig-Frederik Trojahn

    2015-01-01

    Giant congenital melanocytic nevi (GCMN) occur in 1:20,000 livebirths and are associated with increased risk of malignant transformation. The treatment of GCMN from 1981 to 2010 in a tertiary referral center was reviewed evaluating the modalities used, cosmetic results, associated complications...

  8. Congenital neck masses.

    Science.gov (United States)

    Rosa, Peter A; Hirsch, David L; Dierks, Eric J

    2008-08-01

    Congenital neck lesions reflect abnormal embryogenesis in head and neck development. A thorough knowledge of embryology and anatomy is critical in the diagnosis and treatment of these lesions. The appropriate diagnosis of these lesions is necessary to provide appropriate treatment and long-term follow up, because some of these lesions may undergo malignant transformation or be harbingers of malignant disease.

  9. Congenital cystic eyeball

    Directory of Open Access Journals (Sweden)

    Gupta V

    1990-01-01

    Full Text Available A rare case of histopathologically proved case of congenital cystic eye in a one day old girl is described. It was an unusually large cystic mass bulging forwards stretching the upperlid. There was no rudimentary eyeball in the orbit. The cystic eye′s predilection for the left eye has been pointed out for the first time in this article.

  10. Congenital extracranial meningioma

    International Nuclear Information System (INIS)

    Wong, H.F.; Ng, S.H.; Wai, Y.Y.; Wan, Y.L.; Kong, M.S.

    1995-01-01

    The authors report a case of congenital meningioma in a newborn. This tumour is extremely rare and only six cases have been reported in the literature. Those reported cases were mainly intracranial. This is the first case of a neonatal extracranial meningioma that was evaluated preoperatively by computed tomography and magnetic resonance imaging. (orig.)

  11. Congenital cystic adenomatoid malformation

    International Nuclear Information System (INIS)

    Chaudhry, A.K.; Azam, M.; Maqsood, R.; Naz, B.; Salam, A.

    2003-01-01

    This case report presents the clinical picture, diagnostic methodology and surgical treatment of a female child who presented with chronic cough and dyspnoea due to congenital malformation of lung. A discussion of diagnosis and management is presented at the end. (author)

  12. Pseudoamblyopia in Congenital Cyclotropia

    Directory of Open Access Journals (Sweden)

    Antonio Frattolillo

    2017-01-01

    Full Text Available Purpose. To study the effect of surgery on amblyopia and suppression associated with congenital cyclovertical strabismus. Methods. The fixation pattern was investigated with microperimetry before and soon after surgery in ten consecutive children operated for congenital superior oblique palsy at the S. Martino Hospital, Belluno, Italy, between September 2014 and December 2015. Changes in visual performance in terms of best-corrected visual acuity (BCVA and stereopsis between the day before and one week after surgery were also evaluated. No other amblyopia treatment has been administered during the time study. Results. Surgical correction of the excyclodeviation in congenital SO palsy determined monocular and binocular sensory consequences: monocularly, in the cyclodeviated amblyopic eye, BCVA (0.46–0.03 LogMAR; p<0.0001 and the fixation pattern improved, as demonstrated by microperimetry examination. Binocularly, stereopsis improved or emerged while suppression at the Worth four-dot test disappeared. Conclusions. In the absence of further amblyopic factors such as coexisting constant vertical and/or horizontal deviation and anisometropia, the amblyopia encountered in congenital SO palsy may resolve soon after the surgical alignment. Therefore, it may be considered and defined “pseudoamblyopia.”

  13. Identification of congenital deafblindness

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2012-01-01

    . The study evaluated the assessment procedure of 190 children and adults found to be congenitally deafblind. Among the 190 individuals 76 percent were determined using functional assessment in addition to medical examination. A case example involving a 12-year-old child is also presented to illustrate...

  14. Hydrocephalus treatment in children: long-term outcome in 975 consecutive patients.

    Science.gov (United States)

    Beuriat, Pierre-Aurelien; Puget, Stephanie; Cinalli, Giuseppe; Blauwblomme, Thomas; Beccaria, Kevin; Zerah, Michel; Sainte-Rose, Christian

    2017-07-01

    OBJECTIVE Hydrocephalus remains one of the more common pathologies managed in pediatric neurosurgical units. Endoscopic third ventriculostomy (ETV) has an advantage over ventriculoperitoneal shunting as it enables patients to remain device free. Multiple shunt devices with various valve designs exist, with no one valve proven to be superior to another. The aim of this study was to describe the management of hydrocephalus and its long-term outcome. METHODS The authors retrospectively reviewed the medical records of all patients who had been treated for hydrocephalus at the Hôpital Necker-Enfants Malades in the period from 1985 to 1995. RESULTS Nine hundred seventy-five children had been treated for hydrocephalus. The mean follow-up was 11 ± 7.4 years (mean ± standard deviation). The most common cause of hydrocephalus was tumor related (32.3%), followed by malformative (24.5%) and inflammatory (20.9%) causes. Two hundred eighty patients underwent ETV as the first-line treatment. The procedure was effective in controlling hydrocephalus due to posterior fossa tumors and aqueductal stenosis. Six hundred ninety-five children had initial shunt insertion, with the majority receiving an Orbis-Sigma valve (OSV). The overall OSV shunt survival was 70% at 1 year, 58% at 10 years, and 49% at 20 years. The most common cause for mechanical shunt failure was obstruction (50.7%). Overall shunt survival was statistically different between the OSV and the differential-pressure valve (p = 0.009). CONCLUSIONS Endoscopic third ventriculostomy is effective in the management of childhood hydrocephalus. Its success is directly related to the underlying pathology. In the long term, the OSV has significantly higher event-free shunt survival than the classic differential-pressure valve systems.

  15. Epidemiology of Benign External Hydrocephalus in Norway-A Population-Based Study.

    Science.gov (United States)

    Wiig, Ulrikke S; Zahl, Sverre M; Egge, Arild; Helseth, Eirik; Wester, Knut

    2017-08-01

    Benign external hydrocephalus is defined as a rapidly increasing head circumference (occipitofrontal circumference) with characteristic radiological findings of increased subarachnoid cerebrospinal fluid spaces on neuroimaging. The incidence of benign external hydrocephalus has not been previously reported, and there is no available information on the ratio of benign external hydrocephalus in the population of hydrocephalic children. This study is retrospective and population-based study, geographically covering two health regions in the southern half of Norway with a total mean population of 3.34 million in the ten-year study period, constituting approximately 75% of the Norwegian population. Children with a head circumference crossing two percentiles, or greater than the 97.5th percentile, and with typical imaging findings of enlarged frontal subarachnoid spaces with or without enlarged ventricles were included. Children were excluded if they had a history of head trauma, intracranial hemorrhage, central nervous system infection, other known causes of hydrocephalus, or were born preterm defined as birth before 37 weeks of gestation. A total of 176 children fitting the criteria were identified, giving an incidence of 0.4 per 1000 live births. One hundred fifty-two (86.4%) of the patients were male, and mean age at referral was 7.3 months. Increasing head circumference was the main reason for referral in 158 (89.8%) patients and the only finding in 60 (34.1%) patients. Thirty-seven (21%) children had normal ventricles on imaging; the remainder had increased ventricular size. The incidence of pediatric hydrocephalus in Norway is reported to be 0.75 per 1000 live births, thus benign external hydrocephalus accounts for approximately 50% of hydrocephalic conditions in this population. The incidence of benign external hydrocephalus was found to be 0.4 per 1000 live births in this population. Copyright © 2017 The Authors. Published by Elsevier Inc. All rights

  16. Classification of cerebrospinal fluid dynamics in hydrocephalus by computed tomographic cisternography

    International Nuclear Information System (INIS)

    Tamaki, Norihiko; Kanazawa, Yasuhisa; Asada, Masahiro; Nogaki, Hidekazu; Kusunoki, Tadaki

    1980-01-01

    Nine patients with normal CSF circulation and 49 patients with hydrocephalus of various etiologies were used to analyse the CSF dynamics by metrizamide CT cisternography. This investigation resulted in a new classification of CSF dynamics in both normal and hydrocephalic patients. We classified the patterns of CSF dynamics into seven types. Types I and II showed normal CSF kinetics, the former having no ventricular reflux, but the latter showing a transient ventricular reflux by 6 hours. The CSF dynamics in cases with communicating hydrocephalus was divided into types III, IV and V, according to the extent of ventricular filling and the convexity flow of the metrizamide. These types seen in communicating hydrocephalus were characterized by the presence of ventricular dilatation and persistent ventricular filling on 24 hours after the intrathecal injection of metrizamide. Type III showed more prominent flow into the convexity subarachnoid space than into the ventricular system. In Type IV the ventricular filling was almost the same extent as the convexity flow. Type V demonstrated a more prominent ventricular filling than convexity flow. Type VI had no intracranial entry of the metrizamide. Type VII, which represents the CSF kinetics in obstructive hydrocephalus, showed either a normal or delayed convexity flow. However no ventricular filling was present in spite of the marked ventricular enlargement. There was a close correlation between this new system of classification and the pathogenesis of hydrocephalus, as well as the various factors associated with the pathology of hydrocephalus. Our CT cisternographic classification of CSF dynamics seems to be of use in evaluating the grade of CSF circulation disturbance and in deciding the method of treatment of hydrocephalus. (author)

  17. Fractionated Stereotactic Radiotherapy in the Treatment of Vestibular Schwannoma (Acoustic Neuroma): Predicting the Risk of Hydrocephalus

    International Nuclear Information System (INIS)

    Powell, Ceri; Micallef, Caroline; Gonsalves, Adam; Wharram, Bev; Ashley, Sue; Brada, Michael

    2011-01-01

    Purpose: To determine the incidence and predictive factors for the development of hydrocephalus in patients with acoustic neuromas (AN) treated with fractionated stereotactic radiotherapy. Patients and Methods: Seventy-two patients with AN were treated with fractionated stereotactic radiotherapy between 1998 and 2007 (45-50 Gy in 25-30 fractions over 5 to 6 weeks). The pretreatment MRI scan was assessed for tumor characteristics and anatomic distortion independently of subsequent outcome and correlated with the risk of hydrocephalus. Results: At a median follow-up of 49 months (range, 1-120 months), 5-year event-free survival was 95%. Eight patients (11%) developed hydrocephalus within 19 months of radiotherapy, which was successfully treated. On univariate analysis, pretreatment factors predictive of hydrocephalus were maximum diameter (p = 0.005), proximity to midline (p = 0.009), displacement of the fourth ventricle (p = 0.02), partial effacement of the fourth ventricle (p < 0.001), contact with the medulla (p = 0.005), and more brainstem structures (p = 0.004). On multivariate analysis, after adjusting for fourth ventricular effacement, no other variables remained independently associated with hydrocephalus formation. Conclusions: Fractionated stereotactic radiotherapy results in excellent tumor control of AN, albeit with a risk of developing hydrocephalus. Patients at high risk, identified as those with larger tumors with partial effacement of the fourth ventricle before treatment, should be monitored more closely during follow-up. It would also be preferable to offer treatment to patients with progressive AN while the risk of hydrocephalus is low, before the development of marked distortion of fourth ventricle before tumor diameter significantly exceeds 2 cm.

  18. Hydrocephalus research funding from the National Institutes of Health: a 10-year perspective.

    Science.gov (United States)

    Gross, Paul; Reed, Gavin T; Engelmann, Rachel; Kestle, John R W

    2014-02-01

    Funding of hydrocephalus research is important to the advancement of the field. The goal of this paper is to describe the funding of hydrocephalus research from the National Institutes of Health (NIH) over a recent 10-year period. The NIH online database RePORT (Research Portfolio Online Reporting Tools) was searched using the key word "hydrocephalus." Studies were sorted by relevance to hydrocephalus. The authors analyzed funding by institute, grant type, and scientific approach over time. Over $54 million was awarded to 59 grantees for 66 unique hydrocephalus proposals from 48 institutions from 2002 to 2011. The largest sources of funding were the National Institute of Neurological Disease and Stroke and the National Institute of Child Health and Human Development. Of the total, $22 million went to clinical trials, $15 million to basic science, and $10 million to joint ventures with small business (Small Business Innovation Research or Small Business Technology Transfer). Annual funding varied from $2.3 to $8.1 million and steadily increased in the second half of the observation period. The number of new grants also went from 15 in the first 5 years to 27 in the second 5 years. A large portion of the funding has been for clinical trials. Funding for shunt-device development grew substantially. Support for training of hydrocephalus investigators has been low. Hydrocephalus research funding is low compared with that for other conditions of similar health care burden. In addition to NIH applications, researchers should pursue other funding sources. Small business collaborations appear to present an opportunity for appropriate projects.

  19. A case of congenital dermal sinus of the occipital region detected by CT at the onset of meningitis

    International Nuclear Information System (INIS)

    Fujiwara, Katsuhiko; Esumi, Noriko; Nishimura, Osamu

    1985-01-01

    A 4-year-old girl who was found to have congenital dermal sinus of the occipital region by CT at the second onset of meningitis is reported. CT at the first onset of meningitis (at the age of 3 years and 9 months) revealed only small, oval low density areas in the posterior fossa of the occipital region. CT at the second onset showed an abscess in the posterior fossa and dissociation in the posterior part of the cranium. Skin examination in the occipital region disclosed induration of the median area. Thus, congenital dermal sinus was suspected. Further CT disclosed that the patient subsequently developed hydrocephalus despite the intravenous and intrameningeal administration of antibiotics. Therefore, she underwent excision of a cyst and was pathologically diagnosed as having dermoid associated with abscess in the tip of the dermal sinus, which was followed by induration of the occipital skin. (Namekawa, K.)

  20. Diffusion-weighted imaging in the diagnostic evaluation of the hydrocephalus in patients with acute or chronic increase in cerebral pressure; Diffusionsgewichtete Bildgebung in der Diagnostik des Hydrocephalus - Untersuchungen an Patienten mit akuter und ohne akute Hirndrucksymptomatik

    Energy Technology Data Exchange (ETDEWEB)

    Dorenbeck, U. [Abt. fuer Neuroradiologie, Universitaetskliniken des Saarlandes, Homburg/Saar (Germany); Inst. fuer Roentgendiagnostik, Universitaetsklinik Regensburg (Germany); Schlaier, J. [Klinik und Poliklinik fuer Neurochirurgie, Universitaetsklinik Regensburg (Germany); Feuerbach, S.; Seitz, J. [Inst. fuer Roentgendiagnostik, Universitaetsklinik Regensburg (Germany)

    2005-01-01

    Purpose: to investigate whether diffusion-weighted imaging (DWI) in magnetic resonance imaging (MRI) provides additional information about the periventricular white matter for the assessment of hydrocephalus. Materials and methods: sixteen MRI examinations (11 with acutely increased cerebral pressure, 5 without symptoms) on 15 patients with hydrocephalus (4 patients with communicating hydrocephalus and 11 patients with obstructive hydrocephalus) were analyzed. One symptomatic patient subsequently became asymptomatic. We investigated the ''apparent diffusion coefficient'' (ADC) in the subcortical and periventricular white matter. The ADCs of the study patients were compared with those of a healthy control group. Results: symptomatic patients with hydrocephalus, 6/11 showed periventricular edema and a significantly higher ADC values in the periventricular region than in the subcortical white matter. 5/11 symptomatic patients showed significantly higher ADC values even in the absence of periventricular interstitial edema (both groups contained patients with communicating and obstructive hydrocephalus). All 5 asymptomatic patients with hydrocephalus did not have a significantly higher ADC values in the periventricular region. Conclusion: in patients with hydrocephalus and acutely increased cerebral pressure, DWI showed a significantly higher ADC values in the periventricular region even without visible interstitial edema on conventional MRI sequences. (orig.)

  1. Congenital toxoplasmosis and prenatal care state programs

    Science.gov (United States)

    2014-01-01

    Background Control programs have been executed in an attempt to reduce vertical transmission and the severity of congenital infection in regions with a high incidence of toxoplasmosis in pregnant women. We aimed to evaluate whether treatment of pregnant women with spiramycin associated with a lack of monitoring for toxoplasmosis seroconversion affects the prognosis of patients. Methods We performed a prospective cohort study with 246 newborns (NB) at risk for congenital toxoplasmosis in Goiânia (Brazil) between October 2003 and October 2011. We analyzed the efficacy of maternal treatment with spiramycin. Results A total of 40.7% (66/162) of the neonates were born seriously infected. Vertical transmission associated with reactivation during pregnancy occurred in 5.5% (9/162) of the NB, with one showing severe infection (systemic). The presence of specific immunoglobulins (fetal IgM and NB IgA) suggested the worst prognosis. Treatment of pregnant women by spiramycin resulted in reduced vertical transmission. When infected pregnant women did not undergo proper treatment, the risk of severe infection (neural-optical) in NB was significantly increased. Fetal IgM was associated with ocular impairment in 48.0% (12/25) of the fetuses and neonatal IgA-specific was related to the neuro-ophthalmologic and systemic forms of the disease. When acute toxoplasmosis was identified in the postpartum period, a lack of monitoring of seronegative pregnant women resulted in a higher risk of severe congenital infection. Conclusion Treatment of pregnant women with spiramycin reduces the possibility of transmission of infection to the fetus. However, a lack of proper treatment is associated with the onset of the neural-optical form of congenital infection. Primary preventive measures should be increased for all pregnant women during the prenatal period and secondary prophylaxis through surveillance of seroconversion in seronegative pregnant woman should be introduced to reduce the

  2. Encephalocele in Uganda: ethnic distinctions in lesion location, endoscopic management of hydrocephalus, and survival in 110 consecutive children.

    Science.gov (United States)

    Warf, Benjamin C; Stagno, Vita; Mugamba, John

    2011-01-01

    This study characterizes the first clinical series of encephalocele (EC) from East or Central Africa, and is the largest reported from the African continent. The authors explored survival, the efficacy of primary endoscopic management of associated hydrocephalus, and ethnic differences in EC location. One hundred ten consecutive children presented to CURE Children's Hospital of Uganda for treatment of EC over a 9-year period. Clinical data, including patient demographic information, birth date, lesion type (sincipital, parietal, or occipital), operative data, and subsequent course had been entered prospectively into a clinical database. Home visits to update the status of those lost to follow-up were done when possible. With appropriate institutional approvals, the database was reviewed for this retrospective study. Two-tailed probability values calculated using the Fisher exact test were used to assess the significance of differences among groups, with p < 0.05 being considered significant. The Kaplan-Meier method was used for analysis of survival and treatment success probabilities. There were 53 (48%) occipital, 33 (30%) sincipital, and 24 (22%) parietal lesions. Occipital lesions were significantly more common among children of Bantu origin (p = 0.02). Nilotes demonstrated a roughly equal distribution among sincipital, parietal, and occipital locations. The female/male ratio was 1.2, with no difference between EC types (range 1.0-1.4, p = 0.6-0.8). Of 110 patients, 108 (98%) underwent surgical repair at a median age of 1 month (mean 15.7 months), whereas 2 had treatment for hydrocephalus only. Wound revision was required in 13% of cases. Surgery-related mortality was 3%. One-year and 5-year survival rates were 87% (95% CI 0.79-0.93) and 61% (95% CI 0.51-0.70), respectively. Hydrocephalus required treatment in 32%, and was equally common among the 3 EC types. Thirteen patients were treated with combined endoscopic third ventriculostomy/choroid plexus

  3. Concept and treatment of hydrocephalus in the Greco-Roman and early Arabic medicine.

    Science.gov (United States)

    Grunert, P; Charalampaki, P; Ayyad, A

    2007-10-01

    In the ancient medical literature hydrocephalus was not often described although its existence and symptomatology were well known. Most detailed descriptions of hydrocephalus including the surgical treatment are extant in the encyclopaedic works on medicine of the physicians Oreibasios and Aetios from Amida from the 4th and 6th centuries AD, respectively. Because of their broad scientific interests, this type of physicians, typical for the late Roman empire, were known as philosophy-physicians (iota alpha tau rho o sigma o phi iota sigma tau alpha iota). They defined hydrocephalus in contrast to our present understanding as a fluid collection excluding abscesses visible as a bulging tumour localised either outside or inside the skull of an infant. They classified the hydrocephalus similar as stated first by Galen in the 2nd century AD in four types corresponding to the assumed anatomic localisation of the fluid collection: 1st Type between the skin and the pericranium corresponding to the subgaleal haematoma or caput succedaneum of the newborn in our terminology, 2nd Type between the pericranium and the skull corresponding to the cephal haematoma after delivery, 3rd Type between skull and the meninges with increased head circumference, bone sutures being increasingly driven apart corresponding most likely to the hydrocephalus in our understanding, and 4th Type between the menings and the brain characterised by severe neurological deficit with lethal prognosis corresponding probably to all pathologies which were accompanied by an excessive increase of the intracranial pressure with a bulging fontanel. Due to the lack of autopsies in ancient times, the hydrocephalus was never linked to the pathology of the ventricles. All forms of hydrocephalus were believed to be caused by improper handling of the head by the midwife during delivery. Only the extracranial fluid collections, but not hydrocephalus in our sense, were considered to be suitable for surgical treatment

  4. A 2-D simulation of hydrocephalus in the Foramens of Monro of the human ventricular system

    Energy Technology Data Exchange (ETDEWEB)

    Ammourah, S.; Aroussi, A. [Univ. of Nottingham, School of Mechanical, Materials, Manufacturing and Management, University Park, Nottingham (United Kingdom)]. E-mail: eaxsaka@nottingham.ac.uk; Vloeberghs, M. [Queen' s Medical Centre, Dept. of Child Health, Nottingham (United Kingdom)

    2004-07-01

    This study investigates the Cerebrospinal fluid (CSF) flow behavior in a two-dimensional plane (2-D) of the human ventricular system when the hydrocephalus in the Foramens of Monro (F.O.M) occurs. In order to understand the CSF behaviour when the hydrocephalus occurs, it is essential to comprehend its normal flow dynamics i.e. the healthy case with no hydrocephalus. This had been done numerically by reconstructing the ventricular system geometry from the MRI scans and then made a 15{sup o} degree cut in the surgical line to obtain the outlines of the 2-D plane. The healthy cases were solved for the CSF actual flow rate, which is between 100-500 ml/day in 100 incremental steps. The unhealthy cases were studied for the average flow rate, which is 300 ml/day but for blockage ratios of the Foramen diameter of 20%, 50% and 75%. These obstructions are designed to simulate the hydrocephalus. The results show that as the flow rate increases the pressure and the velocity values increases, but no changes in the flow pattern occurs. The maximum pressure on the normal cases occurred in the lateral ventricles and the maximum velocity occurred in the aqueduct neck. The results of the hydrocephalus cases show that as the obstruction degree increases the pressure in the lateral ventricle increases accompanied with a velocity increase in the obstructed Foramen, which may cause unwanted stress on the neighboring tissues. (author)

  5. Contemporary management and surveillance strategy after shunt or endoscopic third ventriculostomy procedures for hydrocephalus.

    Science.gov (United States)

    Janjua, M Burhan; Hoffman, Caitlin E; Souweidane, Mark M

    2017-11-01

    The management of hydrocephalus can be challenging even in expert hands. Due to acute presentation, recurrence, accompanying complications, the need for urgent diagnosis; a robust management plan is an absolute necessity. We devised a novel time efficient surveillance strategy during emergency, and clinic follow up settings which has never been described in the literature. We searched all articles embracing management/surveillance protocol on pediatric hydrocephalus utilizing the terms "hydrocephalus follow up" or "surveillance protocol after hydrocephalus treatment". The authors present their own strategy based on vast experience in the hydrocephalus management at a single institution. The need for the diagnostic laboratory testing, age and presentation based radiological imaging, significance of neuro-opthalmological exam, and when to consider the emergent exploration have been discussed in detail. Moreover, a definitive triaging strategy has been described with the help of flow chart diagrams for clinicians, and the neurosurgeons in practice. The triage starts from detail history, physical exam, necessary labs, radiological imaging depending on the presentation, and the age of the child. A quick head CT scan helps after shunt surgery while, a FAST sequence MRI scan (fsMRI) is important in post ETV patients. The need for neuro-opthalmological exam, and the shunt series stays vital in asymptomatic patients during regular follow up. Copyright © 2017 Elsevier Ltd. All rights reserved.

  6. Surgical management of arrested hydrocephalus: Case report, literature review, and 18-month follow-up.

    Science.gov (United States)

    Hong, Jennifer; Barrena, Benjamin G; Lollis, S Scott; Bauer, David F

    2016-12-01

    Arrested hydrocephalus is stable ventriculomegaly without evidence of neurologic deterioration or symptoms. Management of arrested hydrocephalus in asymptomatic adults is controversial, with little clinical data. This case highlights the potential for decompensation in adults with arrested hydrocephalus and reviews the literature regarding pathophysiology and management of this clinical entity. A 39 year-old gentleman with arrested hydrocephalus incidentally found during work-up for new-onset seizure and managed conservatively for ten years presented with increasing headache, memory loss, gait instability and urinary and fecal incontinence. Stable massive triventriculomegaly was documented on serial brain imaging, and ophthalmologic exam revealed no papilledema. The patient underwent endoscopic third ventriculostomy with immediate post-operative improvement of headache, resolution of incontinence, and cessation of seizures. At 15 months after surgery, neuropsychiatric testing demonstrated improvement in visuomotor skills, problem solving, verbal fluency and cognitive flexibility compared to his pre-operative baseline. At 18 months after surgery he remained seizure free with full continence and significant improvement in headaches. Early recognition of arrested hydrocephalus and its potential for decompensation may prompt surgical treatment and prevent neurologic deterioration. Copyright © 2016 Elsevier B.V. All rights reserved.

  7. Changes in Rat Brain Tissue Microstructure and Stiffness during the Development of Experimental Obstructive Hydrocephalus

    Science.gov (United States)

    Jugé, Lauriane; Pong, Alice C.; Bongers, Andre; Sinkus, Ralph; Bilston, Lynne E.; Cheng, Shaokoon

    2016-01-01

    Understanding neural injury in hydrocephalus and how the brain changes during the course of the disease in-vivo remain unclear. This study describes brain deformation, microstructural and mechanical properties changes during obstructive hydrocephalus development in a rat model using multimodal magnetic resonance (MR) imaging. Hydrocephalus was induced in eight Sprague-Dawley rats (4 weeks old) by injecting a kaolin suspension into the cisterna magna. Six sham-injected rats were used as controls. MR imaging (9.4T, Bruker) was performed 1 day before, and at 3, 7 and 16 days post injection. T2-weighted MR images were collected to quantify brain deformation. MR elastography was used to measure brain stiffness, and diffusion tensor imaging (DTI) was conducted to observe brain tissue microstructure. Results showed that the enlargement of the ventricular system was associated with a decrease in the cortical gray matter thickness and caudate-putamen cross-sectional area (P hydrocephalus development, increased space between the white matter tracts was observed in the CC+PVWM (P hydrocephalus development. PMID:26848844

  8. High signal intensity of the septum pellucidum at MR imaging; Significance in hydrocephalus

    International Nuclear Information System (INIS)

    Yoon, Jeong Hee; Kim, Eun Ha; Chung, Chun Phil; Kim, Chang Soo

    1994-01-01

    To evaluate the significance of high signal intensity of the septum pellucidum in hydrocephalus on proton density-weighted brain MR images. Authors reviewed the MR images of 418 cases of patients with normal (175 case), hydrocephalic(35 cases), atrophic(58 cases), and other groups(150 cases) retrospectively. We analyzed the signal intensity of the septum pellucidum in the normal group and the incidences of high signal intensities of periventricular area of frontal horn of lateral ventricle(area 1), periventricular area except area 1 (area 2), callososeptal area(area 3), and septum pellucidum(area 4) in the normal and abnormal groups. In the normal group, the septum pellucidum was isointense to the head of caudate nucleus on proton density-weighted image. High signal intensity of the septum pellucidum was seen in 31 cases (22 cases of hydrocephalus, 5 cases of brain atrophy, and 4 cases of others), and showed high specificity(91.4%) for hydrocephalus in spite of low sensitivity(62.9%), as compared with periventricular hyperintensities of other areas. High signal intensity of the septum pellucidum on proton density- weighted image may be caused by transependymal CSF migration in the patients with hydrocephalus, and considered as an additional finding of hydrocephalus in the cases of ventriculomegaly

  9. A proposed role for efflux transporters in the pathogenesis of hydrocephalus

    Science.gov (United States)

    Krishnamurthy, Satish; Tichenor, Michael D.; Satish, Akhila G.; Lehmann, David B.

    2014-01-01

    Hydrocephalus is a common brain disorder that is treated only with surgery. The basis for surgical treatment rests on the circulation theory. However, clinical and experimental data to substantiate circulation theory have remained inconclusive. In brain tissue and in the ventricles, we see that osmotic gradients drive water diffusion in water-permeable tissue. As the osmolarity of ventricular CSF increases within the cerebral ventricles, water movement into the ventricles increases and causes hydrocephalus. Macromolecular clearance from the ventricles is a mechanism to establish the normal CSF osmolarity, and therefore ventricular volume. Efflux transporters, (p-glycoprotein), are located along the blood brain barrier and play an important role in the clearance of macromolecules (endobiotics and xenobiotics) from the brain to the blood. There is clinical and experimental data to show that macromolecules are cleared out of the brain in normal and hydrocephalic brains. This article summarizes the existing evidence to support the role of efflux transporters in the pathogenesis of hydrocephalus. The location of p-gp along the pathways of macromolecular clearance and the broad substrate specificity of this abundant transporter to a variety of different macromolecules are reviewed. Involvement of p-gp in the transport of amyloid beta in Alzheimer disease and its relation to normal pressure hydrocephalus is reviewed. Finally, individual variability of p-gp expression might explain the variability in the development of hydrocephalus following intraventricular hemorrhage. PMID:25165050

  10. Surgical management of hydrocephalus secondary to intraventricular hemorrhage in the preterm infant.

    Science.gov (United States)

    Christian, Eisha A; Melamed, Edward F; Peck, Edwin; Krieger, Mark D; McComb, J Gordon

    2016-03-01

    OBJECT Posthemorrhagic hydrocephalus (PHH) in the preterm infant remains a major neurological complication of prematurity. The authors first described insertion of a specially designed low-profile subcutaneous ventricular catheter reservoir for temporary management of hydrocephalus in 1983. This report presents the follow-up experience with the surgical management of PHH in this population and describes outcomes both in infants who were stable for permanent shunt insertion and those initially temporized with a ventricular reservoir (VR) prior to permanent ventriculoperitoneal (VP)/ventriculoatrial (VA) shunt placement. METHODS A retrospective review was undertaken of the medical records of all premature infants surgically treated for posthemorrhagic hydrocephalus (PHH) between 1997 and 2012 at Children's Hospital Los Angeles. RESULTS Over 14 years, 91 preterm infants with PHH were identified. Fifty neonates received temporizing measures via a VR that was serially tapped for varying time periods. For the remaining 41 premature infants, VP/VA shunt placement was the first procedure. Patients with a temporizing measure as their initial procedure had undergone CSF diversion significantly earlier in life than those who had permanent shunting as the initial procedure (29 vs 56 days after birth, p hydrocephalus and shunt infection did not statistically differ between the 2 groups. CONCLUSIONS Patients with initial VR insertion as a temporizing measure received a CSF diversion procedure significantly earlier than those who received a permanent shunt as their initial procedure. Otherwise, the outcomes with regard to shunt revisions, loculated hydrocephalus, and shunt infection were not different for the 2 groups.

  11. A characteristic ventricular shape in myelomeningocele-associated hydrocephalus? A CT stereology study

    International Nuclear Information System (INIS)

    Roost, D. van; Solymosi, L.; Funke, K.

    1995-01-01

    We measured the volume of the supratentorial ventricles in 39 consecutive children with myelomeningocele (MMC) and associated hydrocephalus, using a stereological method based on the Cavalieri theorem of systematic sampling. We distinguished the following groups: newborns before and after cerebrospinal fluid shunting (14), a somewhat larger group of newborns with an untreated MMC-associated hydrocephalus (25) and a group of shunted children at a mean age of 1.5 years (28). We paid special attention to the shape of the lateral ventricles, looking separately at the anterior and posterior halves. The measurements were compared with a healthy control group (10) and with children with hydrocephalus unrelated to MMC (15). The average volume ratio of the posterior to the anterior half of the lateral ventricles was 1.05 ± 0.39 in non-hydrocephalic children, 1.11 ± 0.55 in untreated hydrocephalic children without MMC, and 2.15 ± 0.65 in MMC-associated hydrocephalus prior to shunting. These ratios did not change significantly after shunting. This confirms our impression that MMC-associated hydrocephalus shows a characteristic shape, with a disproportionate enlargement of the posterior part of the lateral ventricles, in clear contrast to the normal-width frontal horns. This shape is reminiscent of the fetal ventricular shape. It reveals disturbance of brain development in children with MMC, which goes beyond the classic description of the Chiari malformation. (orig.)

  12. Spontaneous third ventriculostomy 8 years after diagnosis of obstructive hydrocephalus.

    Science.gov (United States)

    Öğrenci, Ahmet; Ekşi, Murat Şakir; Koban, Orkun

    2016-09-01

    Spontaneous ventriculostomy is spontaneous rupture of membranes separating the ventricular system from the subarachnoid space in patients with chronic obstructive hydrocephalus that ends with resolution of symptoms. We present a case of spontaneous third ventriculostomy occurred in a 19-year-old girl 8 years after the initial diagnosis of hydrocephalus. An 11-year-old girl applied to the clinic with intermittent headaches. She was neurologically stable with no visual problems. On her brain MRI, obstructive hydrocephalus was observed. Cerebrospinal fluid diversion procedures were recommended, yet the family denied any interventional procedure. She had routine follow-ups with occasional clinical admissions because of ongoing intermittent headaches. On her last clinical visit, 8 years after the first one, she was in well condition with improvement in her headache in the last 4 months. Her new brain MRI showed an active CSF flow between the basal cistern and the third ventricle. In patients with aqueductal stenosis and without any other mass lesion, wait and see protocol might be conveyed in case of mild symptoms of hydrocephalus. However, there is need for large-scaled studies to make a more comprehensive statement for benign obstructive hydrocephalus cases.

  13. A 2-D simulation of hydrocephalus in the Foramens of Monro of the human ventricular system

    International Nuclear Information System (INIS)

    Ammourah, S.; Aroussi, A.; Vloeberghs, M.

    2004-01-01

    This study investigates the Cerebrospinal fluid (CSF) flow behavior in a two-dimensional plane (2-D) of the human ventricular system when the hydrocephalus in the Foramens of Monro (F.O.M) occurs. In order to understand the CSF behaviour when the hydrocephalus occurs, it is essential to comprehend its normal flow dynamics i.e. the healthy case with no hydrocephalus. This had been done numerically by reconstructing the ventricular system geometry from the MRI scans and then made a 15 o degree cut in the surgical line to obtain the outlines of the 2-D plane. The healthy cases were solved for the CSF actual flow rate, which is between 100-500 ml/day in 100 incremental steps. The unhealthy cases were studied for the average flow rate, which is 300 ml/day but for blockage ratios of the Foramen diameter of 20%, 50% and 75%. These obstructions are designed to simulate the hydrocephalus. The results show that as the flow rate increases the pressure and the velocity values increases, but no changes in the flow pattern occurs. The maximum pressure on the normal cases occurred in the lateral ventricles and the maximum velocity occurred in the aqueduct neck. The results of the hydrocephalus cases show that as the obstruction degree increases the pressure in the lateral ventricle increases accompanied with a velocity increase in the obstructed Foramen, which may cause unwanted stress on the neighboring tissues. (author)

  14. Account of Haly Abbas regarding the management of hydrocephalus in children: a text from medieval times.

    Science.gov (United States)

    Aciduman, Ahmet; Arda, Berna; Aşkit, Cağatay; Belen, Deniz; Tuzcu, Kemal

    2014-12-01

    To present the text on hydrocephalus from Haly Abbas's book Kitāb al-Malikī / Liber Regius (The Royal Book), which was accepted as a classical textbook in the Eastern and Western worlds for a long time. The Arabic (Süleymaniye Manuscript Library, Murad Molla Collection, Nr: 1482 and Būlāḳ, 1294 /1877) and the Latin (Venice, 1492) versions of the related chapter was translated and compared to create an English text. Additionally, relevant literature was reviewed in detail. The text on hydrocephalus in Haly Abbas's The Royal Book virtually resembles Paul of Aegina's work. For hydrocephalic cases where the fluid collects between skin and pericranium, and pericranium and bone, Haly Abbas had made little change in surgical intervention; for the third type, skin incision, he preferred a T-type incision instead of an H-type. Like Paul of Aegina, Haly Abbas also did not advise any surgical intervention for the cases of hydrocephalus, where fluid accumulation is between bone and the dura mater. Haly Abbas's approach to hydrocephalus was as brave as that of his predecessors Antyllus, Oribasius, and Paulus, although the cases they dealt with were almost all cephalic hematomas. Although his chapter on the treatment of water accumulation in the head contains surgical interventions in extracranial hydrocephalic conditions, his account on hydrocephalus is extremely precise and gives adequate detail as in other chapters in his book. Copyright © 2014 Elsevier Inc. All rights reserved.

  15. Hydrocephalus in a yellow-headed Amazon parrot (Amazona ochrocephala oratrix).

    Science.gov (United States)

    Keller, Krista A; Guzman, David Sanchez-Migallon; Muthuswamy, Anantharaman; Forrest, Lisa J; Steinberg, Howard; Sladky, Kurt; Petersen, Sophie

    2011-09-01

    A 37-year-old female yellow-headed Amazon parrot (Amazona ochrocephala oratrix) was presented after a 4-month-period behavior change and intermittent episodes of obtunded mentation. Clinical findings on physical examination included ataxia, a weak grasp, and reluctance to move. Results of magnetic resonance imaging were consistent with severe hydrocephalus without evidence of cerebrospinal fluid obstruction. The bird was treated with tapering dosages of prednisolone over a 4-month period, during which time the episodes did not occur. Discontinuation of treatment was attempted several times but resulted in relapse. After 3.5 years of maintenance treatment with prednisolone, the bird was presented subsequent to a 5-hour episode of obtunded mentation and worsening neurologic signs. Despite increasing the dose of prednisolone and providing additional supportive care, the bird's condition worsened, and euthanasia was elected. Necropsy findings included severe hydrocephalus with significant loss of right cerebral parenchyma and no evidence of cerebrospinal fluid obstruction. Histologic examination of the remaining cerebral parenchyma revealed a moderate, multifocal, cellular infiltrate; encephalomalacia; fibrosis; and hemosiderosis in tissue adjacent to the distended ventricles. Other findings included hepatic vacuolar degeneration. Diagnostic imaging and postmortem findings were consistent with a diagnosis of hydrocephalus ex vacuo. To our knowledge, this is the first report of hydrocephalus in an Amazon parrot as well as the first report of hydrocephalus in any avian species associated with long-term follow-up and prolonged corticosteroid treatment.

  16. Frequency of Congenital Anomalies in Newborns and Its Relation to Maternal Health in a Tertiary Care Hospital in Peshawar, Pakistan

    Directory of Open Access Journals (Sweden)

    Adnan Khan

    2015-03-01

    Full Text Available Background: Congenital anomalies are a major cause of perinatal and neonatal deaths, both in low- and high-income countries. They are relatively common worldwide, affecting 3% to 5% of live births. Methods: A cross-sectional study was conducted from January 2014 to June 2014 at the Khyber teaching hospital in Peshawar. Specific patient information was obtained from patient records at the beginning of the study. Those individuals found to have at least one birth defect were approached and their attendants (mothers were interviewed. Information regarding various risk factors was collected. Descriptive analyses were carried out. Results: Out of 1062 deliveries, 2.9% (31 of newborns had various congenital anomalies. Hydrocephalus (22.6%, anencephaly (12.9%, and spina bifida (9.7% were major anomalies. The maternal age ranged from 18 years to 46 years (mean: 30 ± 8. Most of the anomalies (35.5% were present in the 26-30 years age group. Out of 31 babies, 6.4% had multiple anomalies. The preponderance of various congenital anomalies was seen in parity 1 (35.4%; parities 2 to 4 had lower incidences (35.4%. The consanguinity rate was 67.7%; only 32.3% of patients were using folic acid. History of passive smoking was positive in 16.1% of cases. Conclusion: Anencephaly and hydrocephalus were the most prominent anomaly detected; early prenatal diagnosis may be helpful in decreasing mortality by offering early termination. Low intake of folic acid and a high consanguinity rate were the most common associated risk factors for congenital anomalies. These risk factors may be reduced by creating awareness regarding the avoidance of consanguineous marriage and promoting the use of folic acid during pregnancy.

  17. Spinal meningeal melanocytoma and hydrocephalus and intracranial superficial siderosis

    International Nuclear Information System (INIS)

    Das, A.; Ratnagopal, P.; Puvanendran, K.; Teo, J.G.C.

    2001-01-01

    Meningeal melanocytomas are uncommon tumours of the central nervous system; fewer than 50 cases have been reported in the English literature. We review the unique clinical presentation, radiological appearance and histological features of a rare case of meningeal melanocytoma. The patient was a 50-year-old man with a history of hypertension who presented with complaints of severe headache, nausea, vomiting and blurry vision for 2 days. Clinical examination revealed no hyperpigmentation marks and he had no history of regressed skin melanocytic lesions. Apart from mild terminal neck stiffness, his general medical examination was unremarkable. On funduscopic examination he had marked bilateral papilloedema and the blind spots were enlarged bilaterally. His neurological examination was otherwise unremarkable. A magnetic resonance imaging scan (MRI) of the brain showed hydrocephalus. On the precontrast T 2 -weighted images, there was hyperintensity of the meninges with little change after administration of gadolinium, which was suggestive of blood. On the T 2 -weighted sequences, there was evidence of hypo-i intensity on the surface of the pons and medulla, which was indicative of superficial siderosis

  18. Passive flow regulators for drug delivery and hydrocephalus treatment

    Science.gov (United States)

    Chappel, E.; Dumont-Fillon, D.; Mefti, S.

    2014-03-01

    Passive flow regulators are usually intended to deliver or drain a fluid at a constant rate independently from pressure variations. New designs of passive flow regulators made of a stack of a silicon membrane anodically bonded to a Pyrex substrate are proposed. A first design has been built for the derivation of cerebrospinal fluid (CSF) towards peritoneum for hydrocephalus treatment. The device allows draining CSF at the patient production rate independently from postural changes. The flow rate is regulated at 20 ml/h in the range 10 to 40 mbar. Specific features to adjust in vivo the nominal flow rate are shown. A second design including high pressure shut-off feature has been made. The intended use is drug delivery with pressurized reservoir of typically 100 to 300 mbar. In both cases, the membrane comprises several holes facing pillars in the Pyrex substrate. These pillars are machined in a cavity which ensures a gap between the membrane and the pillars at rest. The fluid in the pressurized reservoir is directly in contact with the top surface of the membrane, inducing its deflection towards Pyrex substrate and closing progressively the fluidic pathway through each hole of the membrane. Since the membrane deflection is highly non-linear, FEM simulations have been performed to determine both radial position and diameter of the membrane holes that ensure a constant flow rate for a given range of pressure.

  19. The APOE Genotype in Idiopathic Normal Pressure Hydrocephalus.

    Directory of Open Access Journals (Sweden)

    Yi Yang

    Full Text Available Amyloid plaque has been reported in brain biopsies from patients with idiopathic normal-pressure hydrocephalus (iNPH and proposed as a significant feature of the pathophysiology. Presence of the apolipoprotein E ε4 (APOE ε4 allele is associated with increased risk of Alzheimer's disease (AD.To compare the distribution of APOE genotype in iNPH patients with an age-matched population-based control group and with Alzheimer's disease (AD patients.APOE genotype frequencies were determined in 77 iNPH patients (50 men and 27 women, mean age 71.7 years diagnosed with iNPH, a sample of 691 AD patients and 638 age-matched population controls (299 men and 339 women from the INTERGENE cohort.The APOE distribution did not differ significantly between the iNPH patients and the control population. The per e4-allele odds-ratio (OR of iNPH was given by OR = 0.90, 95% confidence interval (CI = (0.50, 1.60 that was considerably smaller than the per-allele OR of AD, OR = 5.34 (4.10, 7.00.The results suggest that the APOE-related risk of AD in patients with iNPH is not higher than in the general population.

  20. Cerebrospinal fluid biomarkers profile of idiopathic normal pressure hydrocephalus.

    Science.gov (United States)

    Schirinzi, Tommaso; Sancesario, Giulia Maria; Di Lazzaro, Giulia; D'Elia, Alessio; Imbriani, Paola; Scalise, Simona; Pisani, Antonio

    2018-04-01

    Idiopathic normal pressure hydrocephalus (iNPH) is a disabling neurological disorder whose potential treatability is significantly limited by diagnostic uncertainty. In fact, typical clinical presentation occurs at late phases of disease, when CSF shunting could be ineffective. In recent years, measurement of different CSF proteins, whose concentration directly reflects neuropathological changes of CNS, has significantly improved both diagnostic timing and accuracy of neurodegenerative disease. Unfortunately iNPH lacks neuropathological hallmarks allowing the identification of specific disease biomarkers. However, neuropathology of iNPH is so rich and heterogeneous that many processes can be tracked in CSF, including Alzheimer's disease core pathology, subcortical degeneration, neuroinflammation and vascular dysfunction. Indeed, a huge number of CSF biomarkers have been analyzed in iNPH patients, but a unifying profile has not been provided yet. In this brief survey, we thus attempted to summarize the main findings in the field of iNPH CSF biomarkers, aimed at outlining a synthetic model. Although defined cut-off values for biomarkers are not available, a better knowledge of CSF characteristics may definitely assist in diagnosing the disease.

  1. Flow-regulated versus differential pressure-regulated shunt valves for adult patients with normal pressure hydrocephalus

    DEFF Research Database (Denmark)

    Ziebell, Morten; Wetterslev, Jørn; Tisell, Magnus

    2013-01-01

    Since 1965 many ventriculo-peritoneal shunt systems have been inserted worldwide to treat hydrocephalus. The most frequent indication in adults is normal pressure hydrocephalus (NPH), a condition that can be difficult to diagnose precisely. Surgical intervention with flow-regulated and differential...

  2. Congenital imprinting disorders

    DEFF Research Database (Denmark)

    Eggermann, Thomas; Netchine, Irène; Temple, I Karen

    2015-01-01

    Imprinting disorders (IDs) are a group of eight rare but probably underdiagnosed congenital diseases affecting growth, development and metabolism. They are caused by similar molecular changes affecting regulation, dosage or the genomic sequence of imprinted genes. Each ID is characterised...... by specific clinical features, and, as each appeared to be associated with specific imprinting defects, they have been widely regarded as separate entities. However, they share clinical characteristics and can show overlapping molecular alterations. Nevertheless, IDs are usually studied separately despite...... EUCID.net (European network of congenital imprinting disorders) now aims to promote better clinical care and scientific investigation of imprinting disorders by establishing a concerted multidisciplinary alliance of clinicians, researchers, patients and families. By encompassing all IDs and establishing...

  3. Congenital intestinal lymphangiectasia

    Directory of Open Access Journals (Sweden)

    Popović Dušan Đ.

    2011-01-01

    Full Text Available Background. Congenital intestinal lymphangiectasia is a disease which leads to protein losing enteropathy. Tortous, dilated lymphatic vessels in the intestinal wall and mesenterium are typical features of the disease. Clinical manifestations include malabsorption, diarrhea, steatorrhea, edema and effusions. Specific diet and medication are required for disease control. Case report. A 19-year old male patient was hospitalized due to diarrhea, abdominal swelling, weariness and fatigue. Physical examination revealed growth impairment, ascites, and lymphedema of the right hand and forearm. Laboratory assessment indicated iron deficiency anaemia, lymphopenia, malabsorption, inflammatory syndrome, and urinary infection. Enteroscopy and video capsule endoscopy demonstrated dilated lymphatic vessels in the small intestine. The diagnosis was confirmed by intestinal biopsy. The patient was put on high-protein diet containing medium-chain fatty acids, somatotropin and suportive therapy. Conclusion. Congenital intestinal lymphangiectasia is a rare disease, usually diagnosed in childhood. Early recognition of the disease and adequate treatment can prevent development of various complications.

  4. [Congenital intestinal lymphangiectasia].

    Science.gov (United States)

    Popović, Dugan D j; Spuran, Milan; Alempijević, Tamara; Krstić, Miodrag; Djuranović, Srdjan; Kovacević, Nada; Damnjanović, Svetozar; Micev, Marjan

    2011-03-01

    Congenital intestinal lymphangiectasia is a disease which leads to protein losing enteropathy. Tortuous, dilated lymphatic vessels in the intestinal wall and mesenterium are typical features of the disease. Clinical manifestations include malabsorption, diarrhea, steatorrhea, edema and effusions. Specific diet and medication are required for disease control. A 19-year old male patient was hospitalized due to diarrhea, abdominal swelling, weariness and fatigue. Physical examination revealed growth impairment, ascites, and lymphedema of the right hand and forearm. Laboratory assessment indicated iron deficiency anaemia, lymphopenia, malabsorption, inflammatory syndrome, and urinary infection. Enteroscopy and video capsule endoscopy demonstrated dilated lymphatic vessels in the small intestine. The diagnosis was confirmed by intestinal biopsy. The patient was put on high-protein diet containing medium-chain fatty acids, somatotropin and supportive therapy. Congenital intestinal lymphangiectasia is a rare disease, usually diagnosed in childhood. Early recognition of the disease and adequate treatment can prevent development of various complications.

  5. Congenital diaphramatic hernia

    Energy Technology Data Exchange (ETDEWEB)

    Kline-Fath, Beth M. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Fetal Care Center of Cincinnati, Cincinnati, OH (United States); Cincinnati Children' s Hospital Medical Center, Department of Radiology, MLC 5031, Cincinnati, OH (United States)

    2012-01-15

    Congenital diaphragmatic hernia, despite advances in therapy, remains a complex condition with significant morbidity and mortality. The etiology of the disorder is still incompletely understood, though the pulmonary hypoplasia and pulmonary hypertension that develop secondarily must be overcome to improve survival. Prenatal US and fetal MRI have helped in the development of a greater understanding of this disease. Also with these modalities, measurement techniques have been developed in an attempt to provide prognosticators for the development of pulmonary hypoplasia and pulmonary hypertension. There is a broad range of approaches for performing these measurements, and variability among imaging centers is noted. Despite inconsistent approaches, these techniques have become the foundation for counseling and prenatal and postnatal therapy. It is hoped that with further research with prenatal US and fetal MRI and the development of innovative medical and surgical therapies that the morbidity and mortality of children with congenital diaphragmatic hernias can be significantly reduced. (orig.)

  6. Congenital Hepatic Cyst

    Directory of Open Access Journals (Sweden)

    Aldo Recinos

    2017-04-01

    Full Text Available Congenital hepatic cyst is a rare and nonsymptomatic condition in infants and children. Its incidence is 2.5% in the postnatal life with a much lower incidence in the prenatal period. Incidental finding on antenatal imaging is the most common presentation. We present a case of a newborn in whom fetal ultrasound detected a cyst within the fetal liver. Postnatal imaging revealed a liver cyst in the right lobe of the liver, with no other intrahepatic structure affected. Liver function tests were abnormal, but the patient was asymptomatic. Posterior follow-up imaging showed a minor decrease in size. Management of congenital hepatic cyst is usually conservative, done with periodic ultrasound monitoring. However, surgical treatment is the mainstay of treatment when hydrops, progressive enlargement, hemorrhage, torsion, or compression of adjacent structures occurs. Malignant transformation can occur, but it is extremely rare. Partial or total removal of the cyst is the preferred treatment in neonates with a large lesion.

  7. Congenital diaphramatic hernia

    International Nuclear Information System (INIS)

    Kline-Fath, Beth M.

    2012-01-01

    Congenital diaphragmatic hernia, despite advances in therapy, remains a complex condition with significant morbidity and mortality. The etiology of the disorder is still incompletely understood, though the pulmonary hypoplasia and pulmonary hypertension that develop secondarily must be overcome to improve survival. Prenatal US and fetal MRI have helped in the development of a greater understanding of this disease. Also with these modalities, measurement techniques have been developed in an attempt to provide prognosticators for the development of pulmonary hypoplasia and pulmonary hypertension. There is a broad range of approaches for performing these measurements, and variability among imaging centers is noted. Despite inconsistent approaches, these techniques have become the foundation for counseling and prenatal and postnatal therapy. It is hoped that with further research with prenatal US and fetal MRI and the development of innovative medical and surgical therapies that the morbidity and mortality of children with congenital diaphragmatic hernias can be significantly reduced. (orig.)

  8. Congenital abnormalities of the posterior fossa.

    Science.gov (United States)

    Bosemani, Thangamadhan; Orman, Gunes; Boltshauser, Eugen; Tekes, Aylin; Huisman, Thierry A G M; Poretti, Andrea

    2015-01-01

    The frequency and importance of the evaluation of the posterior fossa have increased significantly over the past 20 years owing to advances in neuroimaging. Nowadays, conventional and advanced neuroimaging techniques allow detailed evaluation of the complex anatomic structures within the posterior fossa. A wide spectrum of congenital abnormalities has been demonstrated, including malformations (anomalies due to an alteration of the primary developmental program caused by a genetic defect) and disruptions (anomalies due to the breakdown of a structure that had a normal developmental potential). Familiarity with the spectrum of congenital posterior fossa anomalies and their well-defined diagnostic criteria is crucial for optimal therapy, an accurate prognosis, and correct genetic counseling. The authors discuss the spectrum of posterior fossa malformations and disruptions, with emphasis on neuroimaging findings (including diagnostic criteria), neurologic presentation, systemic involvement, prognosis, and risk of recurrence. RSNA, 2015

  9. Characterizing Congenital Amusia

    OpenAIRE

    Stewart, Lauren

    2011-01-01

    The ability to make sense of the music in our environment involves sophisticated cognitive mechanisms that, for most people, are acquired effortlessly and in early life. A special population of individuals, with a disorder termed congenital amusia, report lifelong difficulties in this regard. Exploring the nature of this developmental disorder provides a window onto the cognitive architecture of typical musical processing, as well as allowing a study of the relationship between processing of ...

  10. The heart: Congenital disease

    International Nuclear Information System (INIS)

    Higgins, C.B.

    1987-01-01

    The most important diagnostic requirement in congenital heart disease (CHD) is definition of cardiovascular pathoanatomy. The considerable success in operative correction of even the most complex anomalies in recent years compels ever increasing precision in preoperative demonstration of these anomalies. Early experience with magnetic resonance imaging (MRI) at several institutions indicated that this modality is an effective noninvasive technique for evaluation of CHD. Indeed, MRI seems to have some advantage over other techniques, including angiography, for definitive diagnosis of congenital anomalies of the heart and great arteries and veins. The absence of ionizing radiation and contrast medium in MRI is an additional advantage; the former is particularly important for children, who, up to this time, have frequently been subjected to enormous radiation burdens from multiple cineangiograms during initial diagnosis and follow-up. This chapter describes the MRI appearance of cardiovascular anatomy im the segmental fashion proposed for analysis of complex CHD. Likewise, MRI demonstration of congenital cardiovascular lesions is organized into abnormalities situated at the four segmental cardiovascular levels: great vessels, atria, ventricles, and visceroatrial relationship. The role of MRI in evaluation of complex ventricular anomalies such as single ventricle and thoracic aortic abnormalities is specifically described

  11. NMR images of non-communicating hydrocephalus associated with Dandy-Walker variant and achondroplasia

    International Nuclear Information System (INIS)

    Sato, Masaharu; Kuroda, Ryotaro; Watanabe, Masaru; Nakatani, Jiro; Ioku, Masahiko; Irisawa, Minoru; Hamada, Tatsumi; Ishida, Osamu

    1988-01-01

    Two cases of non-communicating hydrocephalus caused by a relatively rare etiology were reported. They were both diagnosed by means of nuclear magnetic resonance (NMR). The first patient, a 4-month-old boy, had Dandy-Walker variant, showing hypoplasia of the corpus callosum and the inferior vermis, and a large cyst behind the vermis, communicating with the subarachnoid space, as well as hydrocephalus; the fourth ventricle was partially reserved. The second patient, also a 4-month-old boy, had achondroplasia, resulting in a narrow foramen magnum; the disturbance of the outflow of the cerebro-spinal fluid around the cisterna magna was thought to be the cause of hydrocephalus in his case. The validity of NMR was demonstrated in the diagnoses of these conditions, for a high resolution was needed in examining the complicated structure of the posterior fossa. (author)

  12. NMR images of non-communicating hydrocephalus associated with Dandy-Walker variant and achondroplasia

    Energy Technology Data Exchange (ETDEWEB)

    Sato, Masaharu; Kuroda, Ryotaro; Watanabe, Masaru; Nakatani, Jiro; Ioku, Masahiko; Irisawa, Minoru; Hamada, Tatsumi; Ishida, Osamu

    1988-06-01

    Two cases of non-communicating hydrocephalus caused by a relatively rare etiology were reported. They were both diagnosed by means of nuclear magnetic resonance (NMR). The first patient, a 4-month-old boy, had Dandy-Walker variant, showing hypoplasia of the corpus callosum and the inferior vermis, and a large cyst behind the vermis, communicating with the subarachnoid space, as well as hydrocephalus; the fourth ventricle was partially reserved. The second patient, also a 4-month-old boy, had achondroplasia, resulting in a narrow foramen magnum; the disturbance of the outflow of the cerebro-spinal fluid around the cisterna magna was thought to be the cause of hydrocephalus in his case. The validity of NMR was demonstrated in the diagnoses of these conditions, for a high resolution was needed in examining the complicated structure of the posterior fossa.

  13. Obstructive hydrocephalus secondary to odontoid pannus: case report and review of literature.

    Science.gov (United States)

    Soon, Wai Cheong; Thanabalasundaram, Gopiga; Thant, Kyaw Zayar; Ogbonnaya, Ebere Sunny; Harrisson, Stuart Edward

    2018-04-01

    Odontoid pannus or periodontoid pseudotumour is associated with a variety of rheumatological conditions. We report a case of an 80-year old man who presented with acute hydrocephalus following an emergency operation to amputate his infected left big toe. Imaging revealed a large tissue mass causing severe compression at the cervico-medullary junction and obstruction of CSF flow. The acute hydrocephalus was presumed to be related to neck manoeuvring during general anaesthesia. Following an initial emergency CSF diversion through external ventricular drainage catheter insertion, the patient subsequently underwent ventriculo-peritoneal insertion and posterior spinal decompression and fixation. To our knowledge, there have been no reported cases of tophaceous gout of the odontoid pannus causing acute hydrocephalus.

  14. Megadolichobasilarartery as a rare cause of a hydrocephalus internus -synopsis of modern imaging techniques

    International Nuclear Information System (INIS)

    Lemke, A.J.; Sander, B.; Benndorf, G.; Balzer, J.; Boerschel, M.F.; Hosten, N.; Sprung, C.; Ricke, J.; Felix, R.; Lanksch, W.R.

    1995-01-01

    Megadolichobasilarartery (MDB), i.e. the widened, elongated and tortuous course of the basilar artery, has been the topic of numerous publications; about 350 cases have been reported world-wide. It can cause many symptoms; isolated or combined cranial nerve lesions and ischemic or hemorrhagic changes are the most frequent. A hydrocephalus internus is a rare occurrence and many patients do not exhibit any symptoms. To date, angiography, computed tomography, and to an increasing extent magnetic resonance imaging (MRI) are the principal methods for diagnosis of MDB. Angiographic-like representations with CT and MRI are further developments which represent an alternative to angiography. With the help of special MRI sequences, furthermore, non-invasive CSF flow measurements for the etiologic evaluation of a hydrocephalus can be performed. For the example of a patient with MDB and hydrocephalus internus, the possibilities of modern imaging techniques are presented and discussed. (orig.) [de

  15. Subdural haematoma complicating shunting for normal pressure hydrocephalus in the setting of concomitant antiplatelet medication

    DEFF Research Database (Denmark)

    Birkeland, Peter; Lauritsen, Jens; Poulsen, Frantz Rom

    2016-01-01

    OBJECTIVE: To report on the occurrence and management of subdural haematoma after shunt implantation for normal pressure hydrocephalus and to determine the risk of recurrence in the setting of antiplatelet medication. METHODS: From a consecutive series of 80 patients implanted with a cerebrospinal...... fluid shunt for normal pressure hydrocephalus, records from 11 patients taking antiplatelet drugs, who subsequently had surgery for subdural haematoma were extracted and retrospectively reviewed. RESULTS: Patients were followed up for a mean of 1819 days after shunt implantation. Subdural haematomas...... reoperations done before the subdural collection disappeared. Only one patient had a late recurrence almost 11 years after shunt implantation. CONCLUSIONS: Subdural haematoma in the setting of a ventriculoperitoneal implantation for normal pressure hydrocephalus and concomitant antiplatelet medication can...

  16. The significance of periventricular lucency on computed tomography: experimental study with canine hydrocephalus

    International Nuclear Information System (INIS)

    Murata, T.; Handa, H.; Mori, K.; Nakano, Y.

    1981-01-01

    In order to investigate the pathogenesis of periventricular lucency (PVL) in hydrocephalus, CT scans were performed with monitoring of the epidural pressure in a series of dogs with hydrocephalus induced with kaolin. PVL of various degrees was detected in the experimental animals, which disappeared immediately after a shunting operation. Correlations have been attempted between PVL on CT scans and histological examinations, contrast enhancement studies, metrizamide ventriculography, and measurement of regional cerebral blood flow in the periventricular white matter. PVL in hydrocephalus is considered to represent acute edema or chronic CSF retention in the periventricular white matter caused by an increase of water content. In other words, it is regarded as a sign of existing or preceding intraventricular hypertension on CT scan, and seems to be a reversible phenomenon to some extent. PVL may therefore become an indication for a shunt. (orig.)

  17. Endoscopic Removal of a Bullet That Migrated to the Third Ventricle Causing Hydrocephalus.

    Science.gov (United States)

    Aydoseli, Aydın; Unal, Tugrul Cem; Aras, Yavuz; Sabanci, Pulat Akın; Altunrende, Emre; Izgi, Nail

    2017-09-01

    Hydrocephalus caused by an intraventricular bullet is a rare event. We report a case of endoscopic removal of an intraventricular bullet. A 66-year-old man was admitted with a gunshot wound to the head after a suicide attempt. The bullet migrated from the frontal parenchyma to the third ventricle day 4 of admission. On day 21 of admission, the patient developed hydrocephalus with obstruction of the cerebral aqueduct. The bullet was accessed through an endoscopic third ventriculostomy and removed using an endoscope. Hydrocephalus may develop in patients with intraventricular foreign objects. When such objects must be removed, the endoscopic approach is a safe, efficient, and minimally invasive procedure. To our knowledge, this is the first case in the literature of foreign object removal from the ventricle via a transcortical endoscopic approach. Copyright © 2017 Elsevier Inc. All rights reserved.

  18. Type III occipital condylar fracture presenting with hydrocephalus, vertebral artery injury and vasospasm: case report

    International Nuclear Information System (INIS)

    Menendez, J.A.; Baskaya, M.K.; Day, M.A.; Nanda, A.

    2001-01-01

    Occipital condylar fractures (OCF) are rare and have a high mortality rate. We report a patient with OCF who presented with acute hydrocephalus and died from diffuse vasospasm secondary to vertebral artery injury. A 45-year-old man fell 20 feet from a deer stand and landed on his head. CT showed a type III OCF continuing to the anterior rim of the foramen magnum on the left, with a bone fragment pushing into the medulla, causing hydrocephalus. The patient was stabilized, and a four-vessel arteriogram showed diffuse vasospasm with complete occlusion of the left vertebral artery at the level of the OCF. To our knowledge, this is the first documented case of the conjunction of OCF, hydrocephalus, and vasospasm. (orig.)

  19. Radiology of congenital heart disease

    International Nuclear Information System (INIS)

    Amplatz, K.

    1986-01-01

    This is a text on the radiologic diagnosis of congenital heart disease and its clinical manifestations. The main thrust of the book is the logical approach which allows an understanding of the complex theory of congenital heart disease. The atlas gives a concise overview of the entire field of congenital heart disease. Emphasis is placed on the understanding of the pathophysiology and its clinical and radiological consequences. Surgical treatment is included since it provides a different viewpoint of the anatomy

  20. Radioisotope cisternographic evaluation of hydrocephalus: Comparison with CT, MRI, and clinical findings

    International Nuclear Information System (INIS)

    Kwon, Soon Tae; Park, Cheong Hee; Kim, Hyeong Yeol; Kim, Dae Hong; Shin, Kyung Suk; Cho, June Sik; Lee, Kang Wook; Kim, Jae Moon

    1993-01-01

    To evaluate the clinical usefulness of radionuclide(RI) cisternography in patients with hydrocephalus, we retrospectively analyzed RI cisternographic findings of 47 patients by using our classification which was modified from Baum's and correlated them with CT(n=37) or MRI(n=10) findings and clinical outcome in selected patients with hydrocephalus(n=37). Modified RI cisternography patterns of 37 patients were type I in three case(8%), type II in seven(18%), type III-A in six(16%), no case of type III-B, type IV-A in 12(32%), and type IV-B in nine(24%). Ri cisternography enabled to differentiate communicating hydrocephalus(27 cases, 73%) from noncommunicating hydrocephalus(10 case, 27%). There was marked clinical improvement in 17 patients(46%), slight improvement in 11 patients(30%), and no improvement in nine patients(24%). The clinical outcome of patients with RI cisternographic type IV-B was worse than that of other types. CT and MRI could neither predict the clinical outcome nor differentiate type IV-B from type IV-A(P>0.05). Ventricular size index(VSI)was significantly higher in patients with type IV than that with other type(p<0.001). RI cisternographic patterns of communicating hydrocephalous were relatively correlated with clinical outcome(r=-0.53, p=.0010 . VIS(r=0.59, p=.001), and dilation of fourth ventricle(r=0.41, p<0.05). We suggest that our modified classification of RI cisternographic patterns can provide more strict physiological assessment of the CFS dynamics and RI cisternography may be still useful to differentiate communicating hydrocephalus from noncommunicating hydrocephalus and to predict the clinical outcome in conjunction with CT/ MR findings and clinical presentation

  1. CSF Flow in the Brain in the Context of Normal Pressure Hydrocephalus.

    Science.gov (United States)

    Bradley, W G

    2015-05-01

    CSF normally flows back and forth through the aqueduct during the cardiac cycle. During systole, the brain and intracranial vasculature expand and compress the lateral and third ventricles, forcing CSF craniocaudad. During diastole, they contract and flow through the aqueduct reverses. Hyperdynamic CSF flow through the aqueduct is seen when there is ventricular enlargement without cerebral atrophy. Therefore, patients presenting with clinical normal pressure hydrocephalus who have hyperdynamic CSF flow have been found to respond better to ventriculoperitoneal shunting than those with normal or decreased CSF flow. Patients with normal pressure hydrocephalus have also been found to have larger intracranial volumes than sex-matched controls, suggesting that they may have had benign external hydrocephalus as infants. While their arachnoidal granulations clearly have decreased CSF resorptive capacity, it now appears that this is fixed and that the arachnoidal granulations are not merely immature. Such patients appear to develop a parallel pathway for CSF to exit the ventricles through the extracellular space of the brain and the venous side of the glymphatic system. This pathway remains functional until late adulthood when the patient develops deep white matter ischemia, which is characterized histologically by myelin pallor (ie, loss of lipid). The attraction between the bare myelin protein and the CSF increases resistance to the extracellular outflow of CSF, causing it to back up, resulting in hydrocephalus. Thus idiopathic normal pressure hydrocephalus appears to be a "2 hit" disease: benign external hydrocephalus in infancy followed by deep white matter ischemia in late adulthood. © 2015 by American Journal of Neuroradiology.

  2. Hydrocephalus induces dynamic spatiotemporal regulation of aquaporin-4 expression in the rat brain

    Directory of Open Access Journals (Sweden)

    Praetorius Jeppe

    2010-11-01

    Full Text Available Abstract Background The water channel protein aquaporin-4 (AQP4 is reported to be of possible major importance for accessory cerebrospinal fluid (CSF circulation pathways. We hypothesized that changes in AQP4 expression in specific brain regions correspond to the severity and duration of hydrocephalus. Methods Hydrocephalus was induced in adult rats (~8 weeks by intracisternal kaolin injection and evaluated after two days, one week and two weeks. Using magnetic resonance imaging (MRI we quantified lateral ventricular volume, water diffusion and blood-brain barrier properties in hydrocephalic and control animals. The brains were analysed for AQP4 density by western blotting and localisation by immunohistochemistry. Double fluorescence labelling was used to study cell specific origin of AQP4. Results Lateral ventricular volume was significantly increased over control at all time points after induction and the periventricular apparent diffusion coefficient (ADC value significantly increased after one and two weeks of hydrocephalus. Relative AQP4 density was significantly decreased in both cortex and periventricular region after two days and normalized after one week. After two weeks, periventricular AQP4 expression was significantly increased. Relative periventricular AQP4 density was significantly correlated to lateral ventricular volume. AQP4 immunohistochemical analysis demonstrated the morphological expression pattern of AQP4 in hydrocephalus in astrocytes and ventricular ependyma. AQP4 co-localized with astrocytic glial fibrillary acidic protein (GFAP in glia limitans. In vascular structures, AQP4 co-localized to astroglia but not to microglia or endothelial cells. Conclusions AQP4 levels are significantly altered in a time and region dependent manner in kaolin-induced hydrocephalus. The presented data suggest that AQP4 could play an important neurodefensive role, and may be a promising future pharmaceutical target in hydrocephalus and CSF

  3. Early detection of congenital syphilis

    Directory of Open Access Journals (Sweden)

    Nagalakshmi Chowdhary

    2014-01-01

    Full Text Available Late congenital syphilis is a very rare clinical entity, and its early diagnosis and treatment is essential. Dental findings often provide valuable evidence for the diagnosis of late congenital syphilis. It occurs due to the transmission of the disease from an infected mother to her fetus through placenta. This long forgotten disease continues to effect pregnant women resulting in perinatal morbidity and mortality. Congenital syphilis is a preventable disease, and its presence reflects a failure of prenatal care delivery system, as well as syphilis control programs. We are reporting a case of late congenital syphilis with only Hutchinson′s teeth.

  4. Genetics Home Reference: congenital mirror movement disorder

    Science.gov (United States)

    ... Health Conditions Congenital mirror movement disorder Congenital mirror movement disorder Printable PDF Open All Close All Enable ... view the expand/collapse boxes. Description Congenital mirror movement disorder is a condition in which intentional movements ...

  5. Neonate with VACTERL Association and a Branchial Arch Anomaly without Hydrocephalus.

    Science.gov (United States)

    Velazquez, Danitza; Pereira, Elaine; Havranek, Thomas

    2016-03-01

    VACTERL (vertebral anomalies, anal atresia, cardiac defect, tracheoesophageal fistula, renal anomaly, limb anomalies) is an association of anomalies with a wide spectrum of phenotypic expression. While the majority of cases are sporadic, there is evidence of an inherited component in a small number of patients as well as the potential influence of nongenetic risk factors (maternal diabetes mellitus). Presence of hydrocephalus has been reported in VACTERL patients (VACTERL-H) in the past, with some displaying branchial arch anomalies. We report the unique case of an infant of diabetic mother with VACTERL association and a branchial arch anomaly-in the absence of hydrocephalus.

  6. Infantile holocord cellular ependymoma with communicating hydrocephalus: unusual presentation of a rare case.

    Science.gov (United States)

    Aryan, Saritha; Ghosal, Nandita; Aziz, Zarina A; Hegde, A S; Dadlani, Ravi

    2014-01-01

    We present a case of infantile holocord ependymoma in a 4-month-old boy who presented with infection of ventriculoperitoneal shunt done elsewhere for a communicating hydrocephalus. On magnetic resonance imaging, a diffuse holocord T2-hyperintense, T1-hypointense intramedullary bulky lesion with syringomyelia in the cervical level was seen. To the best of our knowledge, this is the first case of infantile holocord ependymoma. As the extent of morbidity associated with a spinal cord tumor is high, an increased level of suspicion and the need for a complete spinal cord screening in a case of infantile hydrocephalus without obvious clinical and radiological evidence of intracranial abnormality is emphasized.

  7. Diffusion tensor imaging with direct cytopathological validation: characterisation of decorin treatment in experimental juvenile communicating hydrocephalus.

    Science.gov (United States)

    Aojula, Anuriti; Botfield, Hannah; McAllister, James Patterson; Gonzalez, Ana Maria; Abdullah, Osama; Logan, Ann; Sinclair, Alexandra

    2016-05-31

    In an effort to develop novel treatments for communicating hydrocephalus, we have shown previously that the transforming growth factor-β antagonist, decorin, inhibits subarachnoid fibrosis mediated ventriculomegaly; however decorin's ability to prevent cerebral cytopathology in communicating hydrocephalus has not been fully examined. Furthermore, the capacity for diffusion tensor imaging to act as a proxy measure of cerebral pathology in multiple sclerosis and spinal cord injury has recently been demonstrated. However, the use of diffusion tensor imaging to investigate cytopathological changes in communicating hydrocephalus is yet to occur. Hence, this study aimed to determine whether decorin treatment influences alterations in diffusion tensor imaging parameters and cytopathology in experimental communicating hydrocephalus. Moreover, the study also explored whether diffusion tensor imaging parameters correlate with cellular pathology in communicating hydrocephalus. Accordingly, communicating hydrocephalus was induced by injecting kaolin into the basal cisterns in 3-week old rats followed immediately by 14 days of continuous intraventricular delivery of either human recombinant decorin (n = 5) or vehicle (n = 6). Four rats remained as intact controls and a further four rats served as kaolin only controls. At 14-days post-kaolin, just prior to sacrifice, routine magnetic resonance imaging and magnetic resonance diffusion tensor imaging was conducted and the mean diffusivity, fractional anisotropy, radial and axial diffusivity of seven cerebral regions were assessed by voxel-based analysis in the corpus callosum, periventricular white matter, caudal internal capsule, CA1 hippocampus, and outer and inner parietal cortex. Myelin integrity, gliosis and aquaporin-4 levels were evaluated by post-mortem immunohistochemistry in the CA3 hippocampus and in the caudal brain of the same cerebral structures analysed by diffusion tensor imaging. Decorin significantly

  8. Hydrocephalus during rehabilitation following severe TBI. Relation to recovery, outcome, and length of stay

    DEFF Research Database (Denmark)

    Linnemann, Mia; Tibæk, Maiken; Kammersgaard, Lars Peter

    2014-01-01

    BACKGROUND: Post traumatic hydrocephalus (PTH) is a frequent complication during rehabilitation following severe TBI. However, the diagnosis of PTH is not straightforward and despite shunting recovery may be delayed. OBJECTIVE: To study the influence of PTH on recovery and outcome during rehabili......BACKGROUND: Post traumatic hydrocephalus (PTH) is a frequent complication during rehabilitation following severe TBI. However, the diagnosis of PTH is not straightforward and despite shunting recovery may be delayed. OBJECTIVE: To study the influence of PTH on recovery and outcome during...

  9. Numerical simulation of cerebrospinal fluid hydrodynamics in the healing process of hydrocephalus patients

    Science.gov (United States)

    Gholampour, S.; Fatouraee, N.; Seddighi, A. S.; Seddighi, A.

    2017-05-01

    Three-dimensional computational models of the cerebrospinal fluid (CSF) flow and brain tissue are presented for evaluation of their hydrodynamic conditions before and after shunting for seven patients with non-communicating hydrocephalus. One healthy subject is also modeled to compare deviated patients data to normal conditions. The fluid-solid interaction simulation shows the CSF mean pressure and pressure amplitude (the superior index for evaluation of non-communicating hydrocephalus) in patients at a greater point than those in the healthy subject by 5.3 and 2 times, respectively.

  10. A Case of Fatal Pulmonary Hypoplasia with Congenital Diaphragmatic Hernia, Thoracic Myelomeningocele, and Thoracic Dysplasia.

    Science.gov (United States)

    Ito, Ai; Fujinaga, Hideshi; Matsui, Sachiko; Tago, Kumiko; Iwasaki, Yuka; Fujino, Shuhei; Nagasawa, Junko; Amari, Shoichiro; Kaneshige, Masao; Wada, Yuka; Takahashi, Shigehiro; Tsukamoto, Keiko; Miyazaki, Osamu; Yoshioka, Takako; Ishiguro, Akira; Ito, Yushi

    2017-10-01

    Background  Congenital diaphragmatic hernia (CDH) is fatal in severe cases of pulmonary hypoplasia. We experienced a fatal case of pulmonary hypoplasia due to CDH, thoracic myelomeningocele (MMC), and thoracic dysplasia. This constellation of anomalies has not been previously reported. Case Report  A male infant with a prenatal diagnosis of thoracic MMC with severe hydrocephalus and scoliosis was born at 36 weeks of gestation. CDH was found after birth and the patient died of respiratory failure due to pulmonary hypoplasia and persistent pulmonary hypertension of the newborn at 30 hours of age despite neonatal intensive care. An autopsy revealed a left CDH without herniation of the liver or stomach into the thoracic cavity, severe hydrocephalus, Chiari malformation type II, MMC with spina bifida from Th4 to Th12, hemivertebrae, fused ribs, deformities of the thoracic cage and legs, short trunk, and agenesis of the left kidney. Conclusion  We speculate that two factors may be associated with the severe pulmonary hypoplasia: decreased thoracic space due to the herniation of visceral organs caused by CDH and thoracic dysplasia due to skeletal deformity and severe scoliosis.

  11. Parylene MEMS patency sensor for assessment of hydrocephalus shunt obstruction.

    Science.gov (United States)

    Kim, Brian J; Jin, Willa; Baldwin, Alexander; Yu, Lawrence; Christian, Eisha; Krieger, Mark D; McComb, J Gordon; Meng, Ellis

    2016-10-01

    Neurosurgical ventricular shunts inserted to treat hydrocephalus experience a cumulative failure rate of 80 % over 12 years; obstruction is responsible for most failures with a majority occurring at the proximal catheter. Current diagnosis of shunt malfunction is imprecise and involves neuroimaging studies and shunt tapping, an invasive measurement of intracranial pressure and shunt patency. These patients often present emergently and a delay in care has dire consequences. A microelectromechanical systems (MEMS) patency sensor was developed to enable direct and quantitative tracking of shunt patency in order to detect proximal shunt occlusion prior to the development of clinical symptoms thereby avoiding delays in treatment. The sensor was fabricated on a flexible polymer substrate to eventually allow integration into a shunt. In this study, the sensor was packaged for use with external ventricular drainage systems for clinical validation. Insights into the transduction mechanism of the sensor were obtained. The impact of electrode size, clinically relevant temperatures and flows, and hydrogen peroxide (H2O2) plasma sterilization on sensor function were evaluated. Sensor performance in the presence of static and dynamic obstruction was demonstrated using 3 different models of obstruction. Electrode size was found to have a minimal effect on sensor performance and increased temperature and flow resulted in a slight decrease in the baseline impedance due to an increase in ionic mobility. However, sensor response did not vary within clinically relevant temperature and flow ranges. H2O2 plasma sterilization also had no effect on sensor performance. This low power and simple format sensor was developed with the intention of future integration into shunts for wireless monitoring of shunt state and more importantly, a more accurate and timely diagnosis of shunt failure.

  12. Molecular and Genetic Studies of Congenital Myopathies

    Science.gov (United States)

    2018-03-21

    Central Core Disease; Centronuclear Myopathy; Congenital Fiber Type Disproportion; Multiminicore Disease; Myotubular Myopathy; Nemaline Myopathy; Rigid Spine Muscular Dystrophy; Undefined Congenital Myopathy

  13. Genetics Home Reference: Fukuyama congenital muscular dystrophy

    Science.gov (United States)

    ... with mental retardation Muscular dystrophy, congenital, Fukuyama type Muscular dystrophy, congenital, with central nervous system involvement Polymicrogyria with muscular dystrophy Related Information How ...

  14. Prevalence of Congenital Malformations

    Directory of Open Access Journals (Sweden)

    Akhavan Karbasi Sedighah

    2009-05-01

    Full Text Available Congenital malformation (CM will begin to emerge as one of the major childhood health problems .Treatment and rehabilitation of children with congenital malformations are costly and complete recovery is usually impossible. The aim of this study was to determine frequency of CM in Yazd central city of the Islamic Republic of Iran to find out if there has been any difference in the rate and types of CM in this area. This descriptive-observational study carried on 4800 births delivered at all maternity hospitals in Yazd from October 2003 to June 2004. Prevalence of CM was 2.83% (2.86 % in male and 2.68 % in female out of the 136 cases 69(51.88% were males and 64 (48.12% were females and 3 with ambiguous genitalia. Positive family history of CM in sibling was in only 6 cases (4.41%.Overall, musculoskeletal (0.83%, central nerv-ous system (0.47% and genital system (0.37% were accounted as the most common. Frequency of CM was more seen in still birth (12.5% as in comparison to live birth (2.71%. There was not statistical difference be-tween prevalence of CM and neonatal's gender, gestational age, birth order and mother's age, drug ingestion, illness and parental consanguinity. In this study the overall prevalence of congenital malformation among the newborn was higher than those previous reported in Iran and determining the causes of this difference needs more extensive studies.

  15. Congenital Midureteric Stricture

    Directory of Open Access Journals (Sweden)

    Singh Shalinder

    2001-01-01

    Full Text Available Congenital midureteric obstruction is a rare entity which can be caused by either ureteric valves or strictures. We report our experience with four patients with midureteric obstruction due to stricture over a six-year period. The condition needs to be differentiated from obstruction of the pelviureteric and vesicoureteric junctions. Obstruction can be initially screened by ultrasound and confirmed by a radionuclide scan with furosemide challenge. Retrograde ureteropyelography and/or intravenous urography may be required to define the level of the stricture.

  16. Nonclassic Congenital Adrenal Hyperplasia

    Directory of Open Access Journals (Sweden)

    Selma Feldman Witchel

    2010-01-01

    Full Text Available Nonclassic congenital adrenal hyperplasia (NCAH due to P450c21 (21-hydroxylase deficiency is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features predominantly reflect androgen excess rather than adrenal insufficiency leading to an ascertainment bias favoring diagnosis in females. Treatment goals include normal linear growth velocity and “on-time” puberty in affected children. For adolescent and adult women, treatment goals include regularization of menses, prevention of progression of hirsutism, and fertility. This paper will review key aspects regarding pathophysiology, diagnosis, and treatment of NCAH.

  17. Congenital Syphilis Masquerading as Leukemia

    OpenAIRE

    Lee, Tiffany; Bell, Stephanie; Scimeme, Jason; Maraqa, Nizar

    2017-01-01

    As of late, the incidence of congenital syphilis in the United States is increasing. Each new case represents a failure of preventing, diagnosing, and treating syphilis in pregnant women. Pediatricians should confirm that all women have received adequate screening for and management of syphilis during pregnancy. Congenital syphilis is easily treatable but may be a diagnostic challenge with high morbidity and mortality.

  18. What Are Congenital Heart Defects?

    Science.gov (United States)

    ... a baby with a congenital heart defect. Family history and genetics Congenital heart disease is not usually passed along ... you or your child to a specialist in genetic testing. Cardiac MRI to diagnose a ... Factors to review family history, smoking, and medicines that increase your risk of ...

  19. [Neonatal tumours and congenital malformations].

    Science.gov (United States)

    Berbel Tornero, O; Ortega García, J A; Ferrís i Tortajada, J; García Castell, J; Donat i Colomer, J; Soldin, O P; Fuster Soler, J L

    2008-06-01

    The association between pediatric cancer and congenital abnormalities is well known but, there is no exclusive data on the neonatal period and the underlying etiopathogenic mechanisms are unknown. First, to analyze the frequency of neonatal tumours associated with congenital abnormalities; and second, to comment on the likely etiopathogenic hypotheses of a relationship between neonatal tumours and congenital abnormalities. Historical series of neonatal tumours from La Fe University Children's Hospital in Valencia (Spain), from January 1990 to December 1999. Histological varieties of neonatal tumours and associated congenital abnormalities were described. A systematic review of the last 25 years was carried out using Medline, Cancerlit, Index Citation Science and Embase. The search profile used was the combination of "neonatal/congenital-tumors/cancer/neoplasms" and "congenital malformations/birth defects". 72 neonatal tumours were identified (2.8% of all pediatric cancers diagnosed in our hospital) and in 15 cases (20.8%) there was some associated malformation, disease or syndrome. The association between congenital abnormalities and neonatal tumours were: a) angiomas in three patients: two patients with congenital heart disease with a choanal stenosis, laryngomalacia; b) neuroblastomas in two patients: horseshoe kidney with vertebral anomalies and other with congenital heart disease; c) teratomas in two patients: one with cleft palate with vertebral anomalies and other with metatarsal varus; d) one tumour of the central nervous system with Bochdaleck hernia; e) heart tumours in four patients with tuberous sclerosis; f) acute leukaemia in one patient with Down syndrome and congenital heart disease; g) kidney tumour in one case with triventricular hydrocephaly, and h) adrenocortical tumour: hemihypertrophy. The publications included the tumours diagnosed in different pediatric periods and without unified criteria to classify the congenital abnormalities. Little data

  20. Congenital nystagmus and negative electroretinography

    Directory of Open Access Journals (Sweden)

    Roussi M

    2011-04-01

    Full Text Available Mirella Roussi, Hélène Dalens, Jean Jacques Marcellier, Franck BacinDepartment of Ophthalmology, Clermont-Ferrand University, Clermont-Ferrand, FranceAbstract: Congenital nystagmus is a pathologic oculomotor state appearing at about three to four months of age. The precise diagnosis requires detailed clinical examination and electrophysiological findings. This case report presents two male patients with congenital nystagmus examined longitudinally from the age of six months until 17-18 years of age. Clinical and electrophysiological protocols were detailed. The first results showed electronegative electroretinography in the two cases and examination combined with electroretinographic findings helped us to make the diagnosis of Congenital Night Stationary Blindness (CSNB. This diagnosis was confirmed by genetic studies. CSNB is interesting to study because through electrophysiological findings, it enables a better understanding of the physiology of neural transmission in the outer part of the retina.Keywords: Congenital nystagmus, negative electroretinography, congenital night stationary blindness

  1. Congenital Leukemia in Down's syndrome

    International Nuclear Information System (INIS)

    Iqbal, W.; Khan, F.; Muzaffar, M.; Khan, U. A.; Rehman, M. U.; Khan, M. A.; Bari, A.

    2006-01-01

    Congenital Leukemia is a condition and often associated with fatal outcome/sup 1/. Most of the neonatal cases reported have acute non-lymphoblastic leukemia, in contrast to the predominance of acute lymphoblastic leukemia found in later childhood. congenital leukemia is occasionally associated with number of congenital anomalies and with chromosomal disorders such as Down's syndrome. Subtle cytogenetic abnormalities may occur more commonly in the affected infants and their parents, when studied with newer cytogenetic techniques/sup 2/. Inherent unstable hematopoieses resulting from chromosomal aberration in children with Downs's syndrome can present with transient myeloproliferative disorder, mimicking leukemia which undergoes spontaneous recovery/sup 3/. Only few cases of congenital leukemia with Downs syndrome, presented as congenital leukemia. (author)

  2. Global surgery for pediatric hydrocephalus in the developing world: a review of the history, challenges, and future directions.

    Science.gov (United States)

    Muir, Ryan T; Wang, Shelly; Warf, Benjamin C

    2016-11-01

    OBJECTIVE Pediatric hydrocephalus is one of the most common neurosurgical conditions and is a major contributor to the global burden of surgically treatable diseases. Significant health disparities exist for the treatment of hydrocephalus in developing nations due to a combination of medical, environmental, and socioeconomic factors. This review aims to provide the international neurosurgery community with an overview of the current challenges and future directions of neurosurgical care for children with hydrocephalus in low-income countries. METHODS The authors conducted a literature review around the topic of pediatric hydrocephalus in the context of global surgery, the unique challenges to creating access to care in low-income countries, and current international efforts to address the problem. RESULTS Developing countries face the greatest burden of pediatric hydrocephalus due to high birth rates and greater risk of neonatal infections. This burden is related to more general global health challenges, including malnutrition, infectious diseases, maternal and perinatal risk factors, and education gaps. Unique challenges pertaining to the treatment of hydrocephalus in the developing world include a preponderance of postinfectious hydrocephalus, limited resources, and restricted access to neurosurgical care. In the 21st century, several organizations have established programs that provide hydrocephalus treatment and neurosurgical training in Africa, Central and South America, Haiti, and Southeast Asia. These international efforts have employed various models to achieve the goals of providing safe, sustainable, and cost-effective treatment. CONCLUSIONS Broader commitment from the pediatric neurosurgery community, increased funding, public education, surgeon training, and ongoing surgical innovation will be needed to meaningfully address the global burden of untreated hydrocephalus.

  3. Congenital extrahepatic portosystemic shunts

    Energy Technology Data Exchange (ETDEWEB)

    Murray, Conor P.; Yoo, Shi-Joon; Babyn, Paul S. [Department of Diagnostic Imaging, Hospital for Sick Children, 555 University Avenue, M5G 1X8, Toronto, Ontario (Canada)

    2003-09-01

    A congenital extrahepatic portosystemic shunt (CEPS) is uncommon. A type 1 CEPS exists where there is absence of intrahepatic portal venous supply and a type 2 CEPS where this supply is preserved. The diagnosis of congenital portosystemic shunt is important because it may cause hepatic encephalopathy. To describe the clinical and imaging features of three children with CEPS and to review the cases in the published literature. The diagnostic imaging and medical records for three children with CEPS were retrieved and evaluated. An extensive literature search was performed. Including our cases, there are 61 reported cases of CEPS, 39 type 1 and 22 type 2. Type 1 occurs predominantly in females, while type 2 shows no significant sexual preponderance. The age at diagnosis ranges from 31 weeks of intrauterine life to 76 years. Both types of CEPS have a number of associations, the most common being nodular lesions of the liver (n=25), cardiac anomalies (n=19), portosystemic encephalopathy (n=10), polysplenia (n=9), biliary atresia (n=7), skeletal anomalies (n=5), and renal tract anomalies (n=4). MRI is recommended as an important means of diagnosing and classifying cases of CEPS and examining the associated cardiovascular and hepatic abnormalities. Screening for CEPS in patients born with polysplenia is suggested. (orig.)

  4. Congenital extrahepatic portosystemic shunts

    International Nuclear Information System (INIS)

    Murray, Conor P.; Yoo, Shi-Joon; Babyn, Paul S.

    2003-01-01

    A congenital extrahepatic portosystemic shunt (CEPS) is uncommon. A type 1 CEPS exists where there is absence of intrahepatic portal venous supply and a type 2 CEPS where this supply is preserved. The diagnosis of congenital portosystemic shunt is important because it may cause hepatic encephalopathy. To describe the clinical and imaging features of three children with CEPS and to review the cases in the published literature. The diagnostic imaging and medical records for three children with CEPS were retrieved and evaluated. An extensive literature search was performed. Including our cases, there are 61 reported cases of CEPS, 39 type 1 and 22 type 2. Type 1 occurs predominantly in females, while type 2 shows no significant sexual preponderance. The age at diagnosis ranges from 31 weeks of intrauterine life to 76 years. Both types of CEPS have a number of associations, the most common being nodular lesions of the liver (n=25), cardiac anomalies (n=19), portosystemic encephalopathy (n=10), polysplenia (n=9), biliary atresia (n=7), skeletal anomalies (n=5), and renal tract anomalies (n=4). MRI is recommended as an important means of diagnosing and classifying cases of CEPS and examining the associated cardiovascular and hepatic abnormalities. Screening for CEPS in patients born with polysplenia is suggested. (orig.)

  5. Edaravone reduces astrogliosis and apoptosis in young rats with kaolin-induced hydrocephalus.

    Science.gov (United States)

    Garcia, Camila Araújo Bernardino; Catalão, Carlos Henrique Rocha; Machado, Hélio Rubens; Júnior, Ivair Matias; Romeiro, Thais Helena; Peixoto-Santos, José Eduardo; Santos, Marcelo Volpon; da Silva Lopes, Luiza

    2017-03-01

    We investigated the possible neuroprotective effects of the free radical scavenger edaravone in experimental hydrocephalus. Seven-day-old Wistar rats were divided into three groups: control group (C), untreated hydrocephalic (H), and hydrocephalic treated with edaravone (EH). The H and EH groups were subjected to hydrocephalus induction by 20% kaolin intracisternal injection. The edaravone (20 mg/kg) was administered daily for 14 days from the induction of hydrocephalus. All animals were daily weighed and submitted to behavioral test and assessment by magnetic resonance imaging. After 14 days, the animals were sacrificed and the brain was removed for histological, immunohistochemical, and biochemical studies. The gain weight was similar between groups from the ninth post-induction day. The open field test performance of EH group was better (p  0.01), germinal matrix (p > 0.05), and cerebral cortex (p > 0.05), as compared to H group. We have demonstrated that administration of edaravone for 14 consecutive days after induction of hydrocephalus reduced astrocyte activity and that it has some beneficial effects over apoptotic cell death.

  6. The Language of Children with Spina Bifida and Hydrocephalus: Meeting Task Demands and Mastering Syntax.

    Science.gov (United States)

    Byrne, Karen; And Others

    1990-01-01

    Linguistic performance of 7 children (mean age=68 months) with spina bifida, hydrocephalus, and average intelligence was evaluated. Subjects dealt with the semantic-pragmatic requirements of linguistically posed problems in an age-appropriate manner. Performance declined as task demands increased but no more than performance of nondisabled…

  7. Hydrocephalus secondary to obstruction of the lateral apertures in two dogs.

    Science.gov (United States)

    Kent, M; Glass, E N; Haley, A C; Shaikh, L S; Sequel, M; Blas-Machado, U; Bishop, T M; Holmes, S P; Platt, S R

    2016-11-01

    Traditionally, hydrocephalus is divided into communicating or non-communicating (obstructive) based on the identification of a blockage of cerebrospinal fluid (CSF) flow through the ventricular system. Hydrocephalus ex vacuo refers to ventricular enlargement as a consequence of neuroparenchymal loss. Hydrocephalus related to obstruction of the lateral apertures of the fourth ventricles has rarely been described. The clinicopathologic findings in two dogs with hydrocephalus secondary to obstruction of the lateral apertures of the fourth ventricle are reported. Signs were associated with a caudal cervical spinal cord lesion in one dog and a caudal brain stem lesion in the other dog. Magnetic resonance imaging (MRI) disclosed dilation of the ventricular system, including the lateral recesses of the fourth ventricle. In one dog, postmortem ventriculography confirmed obstruction of the lateral apertures. Microscopic changes were identified in the choroid plexus in both dogs, yet a definitive cause of the obstructions was not identified. The MRI findings in both dogs are similar to membranous occlusion of the lateral and median apertures in human patients. MRI detection of dilation of the entire ventricular system in the absence of an identifiable cause should prompt consideration of an obstruction of the lateral apertures. In future cases, therapeutic interventions aimed at re-establishing CSF flow or ventriculoperitoneal catheterisation should be considered. © 2016 Australian Veterinary Association.

  8. Treatment and clinical outcome in patients with idiopathic normal pressure hydrocephalus - a systematic review

    DEFF Research Database (Denmark)

    Torsnes, Linnea; Blåfjelldal, Vibeke; Poulsen, Frantz Rom

    2014-01-01

    INTRODUCTION: Treatment of idiopathic normal pressure hydrocephalus (iNPH) is challenging. It is well known that patients with iNPH experience short-term symptom relief after shunt implantation, but the long-term effect of shunting has yielded diverging results. The objective of the present study...

  9. Effects of Aerobic Capacity on Thrombin-Induced Hydrocephalus and White Matter Injury.

    Science.gov (United States)

    Ni, Wei; Gao, Feng; Zheng, Mingzhe; Koch, Lauren G; Britton, Steven L; Keep, Richard F; Xi, Guohua; Hua, Ya

    2016-01-01

    We have previously shown that intracerebral hemorrhage-induced brain injury is less in rats bred for high aerobic capacity (high capacity runners; HCR) compared with those bred for low aerobic capacity (low capacity runners; LCRs). Thrombin, an essential component in the coagulation cascade, is produced after cerebral hemorrhage. Intraventricular injection of thrombin causes significant hydrocephalus and white matter damage. In the present study, we examined the effect of exercise capacity on thrombin-induced hydrocephalus and white matter damage. Mid-aged (13-month-old) female LCRs (n = 13) and HCRs (n = 12) rats were used in this study. Rats received an intraventricular injection of thrombin (3 U, 50 μl). All rats underwent magnetic resonance imaging (MRI) at 24 h and were then euthanized for brain histology and Western blot. The mortalities were 20 % in LCRs and 33 % in HCRs after thrombin injection (p > 0.05). No rats died after saline injection. Intraventricular thrombin injection resulted in hydrocephalus and periventricular white matter damage as determined on MRI. In LCR rats, thrombin induced significant ventricle enlargement (23.0 ± 2.3 vs12.8 ± 1.9 mm(3) in LCR saline group; p hydrocephalus in rats with low aerobic capacity. A differential effect of thrombin may contribute to differences in the effects of cerebral hemorrhage with aerobic capacity.

  10. Improvement after treatment of hydrocephalus in aneurysmal subarachnoid haemorrhage : implications for grading and prognosis

    NARCIS (Netherlands)

    ter Laan, M; Mooij, JJA

    Two patients with aneurysmal subarachnoid haemorrhage and hydrocephalus are presented. On admission they scored E1M4V1 and E1M3Vtube on the Glasgow Coma Scale. The first patient recovered to E3M5Vtube after treatment of hydrocpehalus by extraventricular drainage. The second recovered to E2M5Vtube

  11. Medication overuse as a cause of chronic headache in shunted hydrocephalus patients

    DEFF Research Database (Denmark)

    Willer, Lasse; Jensen, R H; Juhler, M

    2010-01-01

    To highlight the group of hydrocephalus patients known to have a long history of shunt revisions and refractory chronic headache. When a shunt in perfect working order has no effect on headache, other causes of headache should be investigated. In this paper, patients with medication overuse...

  12. Initial experience with the Codman Certas adjustable valve in the management of patients with hydrocephalus

    DEFF Research Database (Denmark)

    Watt, Sara; Agerlin, Niels; Romner, Bertil

    2012-01-01

    A new adjustable valve, the Codman CertasTM valve for treatment of hydrocephalus was introduced into clinical practice in January 2011. It has 8 different settings with an opening pressure varying from 36 to over 400 mm H2O at a flow rate of 20 mL/h. The 8th setting is designed to provide...

  13. Increased self-diffusion of brain water in hydrocephalus measured by MR imaging

    International Nuclear Information System (INIS)

    Gideon, P.; Thomsen, C.; Gjerris, F.; Soerensen, P.S.; Henriksen, O.

    1994-01-01

    We used MR imaging to measure the apparent brain water self-diffusion in 5 patients with normal pressure hydrocephalus (NPH), in 2 patients with high pressure hydrocephalus (HPH), and in 8 agematched controls. In all patients with NPH significant elevations of the apparent diffusion coefficients (ADC) of brain water were found within periventricular white matter, in the corpus callosum, in the internal capsule, within cortical gray matter, and in cerebrospinal fluid, whereas normal ADCs were found within the basal ganglia. In 2 patients with HPH elevated ADCs were found most prominently within white matter and in one patient reexamined one year after surgery. ADCs were unchanged in nearly all brain regions. The increased ADC values in hydrocephalus patients may be caused by factors such as changes in myelin-associated bound water, increased Virchow-Robin spaces, and increased extracellular brain water fraction. For further studies of brain water diffusion in hydrocephalus patients, echo-planar imaging techniques with imaging times of a few seconds may be valuable. (orig.)

  14. Hydrocephalus is a rare outcome in community-acquired bacterial meningitis in adults

    DEFF Research Database (Denmark)

    Bodilsen, Jacob; Schønheyder, Henrik Carl; Nielsen, Henrik I

    2013-01-01

    BACKGROUND: Community-acquired bacterial meningitis (CABM) continues to have a high mortality rate and often results in severe sequelae among survivors. Lately, an increased effort has been focused on describing the neurological complications of meningitis including hydrocephalus. To aid in this ......BACKGROUND: Community-acquired bacterial meningitis (CABM) continues to have a high mortality rate and often results in severe sequelae among survivors. Lately, an increased effort has been focused on describing the neurological complications of meningitis including hydrocephalus. To aid...... in this field of research we set out to ascertain the risk and outcome of hydrocephalus in patients with community-acquired bacterial meningitis (CABM) in North Denmark Region. METHODS: We conducted a retrospective population-based cohort study of CABM cases above 14 years of age. Cases diagnosed during a 13......-year period, 1998 through 2010, were identified in a laboratory register and data were acquired through patient records. Cases not confirmed by culture met other strict inclusion criteria. The diagnosis of hydrocephalus relied upon the radiologists' reports on cranial imaging. Outcome was graded...

  15. Repeated peritoneal catheter blockage caused by neurocysticercosis following ventriculoperitoneal shunt placement for hydrocephalus

    Directory of Open Access Journals (Sweden)

    Zhi Hua Li

    2018-01-01

    Full Text Available Cerebral cysticercosis is common, but the possibility for repeated occurrence of peritoneal catheter blockage caused by neurocysticercosis (NCC after two revisions following ventriculoperitoneal shunt placement for hydrocephalus is unusual. Herein, we describe one rare case in which peritoneal catheter revision was performed two times unsuccessfully. Endoscopic cysternostomy rather than peritoneal catheter adjustment was performed successfully, and histopathological examination of excised cystic samples confirmed NCC in our hospital. The present case highlights the need for awareness of NCC as a possible etiology of hydrocephalus, especially in developing countries. Uncommon findings in both lateral ventricles following low-field magnetic resonance imaging scans as well as the rarity of this infection involved in unusual location play important roles in misdiagnosis and incorrect treatment for hydrocephalus; thus, endoscopic cysternostomy, rather than multiple shunt adjustment of the peritoneal end, is recommended in the selected patient. To the best of our knowledge, this is the first report describing the misdiagnosis and inappropriate treatment of hydrocephalus caused by cerebral cysticercosis in China.

  16. [Economic hardship and fallout on households of the management of hydrocephalus in Benin].

    Science.gov (United States)

    Gandaho, Hugues Jean-Thierry; Hounton, Sennen Houesse; Kelani, Amina; Darga, Christian; Hoinsou-Hans, Isaac; Agbani, Florence; Lalya, Francis; Koumakpayi, Sikiratou; Ayivi, Blaise

    2017-04-27

    Objectives: The socioeconomic profile of households and families of children attending hospital for hydrocephalus were documented and analysed. Main costs related to diagnosis and care were reviewed. The emotional fallout and social well-being of families were also analysed. Methods: This retrospective cross-sectional study (January 2006 to January 2015) was based on costs borne by households and families for neurosurgical care of children with hydrocephalus. Results: Sixty children (1 day to 12 years old) had been hospitalized for hydrocephalus in Cotonou-Benin. In 19 cases, the families were single-parent families. In 44 cases, the parents were self-employed workers or private company employees. Public servants, eligible for national health system assistance, accounted for a mere 16 cases. Twenty six children did not receive any financial support, whereas the total average care-related out-of-pocket expenditure for families during the hospital stay was approximately €1,777 (1,117,500 FCFA), i.e. almost 14 times the average monthly income reported by the parents (82,600 FCFA – approximately €120). After hospitalization, 31 mothers had lost their jobs and 21 couples experienced marital issues and their plans to have children. Twelve recent separations were recorded, as well as one indirect maternal death related to depression. Conclusion: In Benin Republic, surgical care for paediatric hydrocephalus represents catastrophic out-of-pocket expenditures for households and families and other living expenses. Families experience significant emotional fallout with effects on couple relationships and survival.

  17. Neurodevelopmental long-term outcome in children with hydrocephalus requiring neonatal surgical treatment.

    Science.gov (United States)

    Melot, A; Labarre, A; Vanhulle, C; Rondeau, S; Brasseur, M; Gilard, V; Castel, H; Marret, S; Proust, F

    2016-04-01

    To assess long-term neurodevelopmental outcome in children with hydrocephalus requiring neurosurgical treatment during the neonatal period. This prospective longitudinal population-based study included 43 children with neonatal shunted hydrocephalus. The 43 children were prospectively reviewed in the presence of their parents at the outpatient clinic. Cognitive and motor outcomes were assessed respectively using different Wechsler scales according to age and Gross Motor Function Classification System (GMFCS). Postoperative MRI was routinely performed. The mean gestational age at birth of the 43 consecutive children with neonatal hydrocephalus (sex ratio M/F: 1.39) was 34.5±5.4 weeks of gestation. At mean follow-up of 10.4±4 years, mean total IQ was 73±27.7, with equivalent results in mean verbal and mean performance IQ. Of the 33 children with IQ evaluation, 18 presented an IQ≥85 (41.9%). Efficiency in walking without a mobility device (GMFCS≤2) was obtained in 37 children (86%). Only severity of postoperative ventricular dilation was significantly associated with unfavorable outcome (Evans index>0.37; odds ratio: 0.16, P=0.03). This information could be provided to those families concerned who often experience anxiety when multi-disciplinary management of neonatal hydrocephalus is required. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  18. Left hemisphere structural connectivity abnormality in pediatric hydrocephalus patients following surgery.

    Science.gov (United States)

    Yuan, Weihong; Meller, Artur; Shimony, Joshua S; Nash, Tiffany; Jones, Blaise V; Holland, Scott K; Altaye, Mekibib; Barnard, Holly; Phillips, Jannel; Powell, Stephanie; McKinstry, Robert C; Limbrick, David D; Rajagopal, Akila; Mangano, Francesco T

    2016-01-01

    Neuroimaging research in surgically treated pediatric hydrocephalus patients remains challenging due to the artifact caused by programmable shunt. Our previous study has demonstrated significant alterations in the whole brain white matter structural connectivity based on diffusion tensor imaging (DTI) and graph theoretical analysis in children with hydrocephalus prior to surgery or in surgically treated children without programmable shunts. This study seeks to investigate the impact of brain injury on the topological features in the left hemisphere, contratelateral to the shunt placement, which will avoid the influence of shunt artifacts and makes further group comparisons feasible for children with programmable shunt valves. Three groups of children (34 in the control group, 12 in the 3-month post-surgery group, and 24 in the 12-month post-surgery group, age between 1 and 18 years) were included in the study. The structural connectivity data processing and analysis were performed based on DTI and graph theoretical analysis. Specific procedures were revised to include only left brain imaging data in normalization, parcellation, and fiber counting from DTI tractography. Our results showed that, when compared to controls, children with hydrocephalus in both the 3-month and 12-month post-surgery groups had significantly lower normalized clustering coefficient, lower small-worldness, and higher global efficiency (all p  hydrocephalus surgically treated with programmable shunts.

  19. Adjustable valves in normal-pressure hydrocephalus: a retrospective study of 218 patients

    DEFF Research Database (Denmark)

    Zemack, G.; Rommer, Bertil Roland

    2008-01-01

    OBJECTIVE: We sought to assess the value of adjusting shunt valve opening pressure, complications, and outcomes with the use of an adjustable shunt valve in the treatment of patients with normal-pressure hydrocephalus (NPH). METHODS: In a single-center retrospective study, 231 adjustable valves...

  20. Risk of rebleeding after treatment of acute hydrocephalus in patients with aneurysmal subarachnoid hemorrhage

    NARCIS (Netherlands)

    Hellingman, Catharine A.; van den Bergh, Walter M.; Beijer, Inge S.; van Dijk, Gert W.; Algra, Ale; van Gijn, Jan; Rinkel, Gabriël J. E.

    2007-01-01

    BACKGROUND AND PURPOSE: Cerebrospinal fluid drainage is often indicated in patients with acute hydrocephalus after aneurysmal subarachnoid hemorrhage but is believed to increase the risk of rebleeding. We studied the risk of rebleeding in patients with subarachnoid hemorrhage during treatment for

  1. Cerebrospinal fluid flow and production in patients with normal pressure hydrocephalus studied by MRI

    DEFF Research Database (Denmark)

    Gideon, P; Ståhlberg, F; Thomsen, C

    1994-01-01

    An interleaved velocity-sensitised fast low-angle shot pulse sequence was used to study cerebrospinal fluid (CSF) flow in the cerebral aqueduct, and supratentorial CSF production in 9 patients with normal pressure hydrocephalus (NPH) and 9 healthy volunteers. The peak aqueduct CSF flow, both caudal...

  2. Parvovirus associated cerebellar hypoplasia and hydrocephalus in day-old broiler chickens

    Science.gov (United States)

    Cerebellar hypoplasia and hydrocephalus were detected in day-old broiler chickens. Brains of chickens evaluated at necropsy appeared to be abnormal; some were disfigured and cerebellae appeared to be smaller than normal. Histopathologic examination of brains revealed cerebellar folia that were sho...

  3. The Management and Education of Children with Spina Bifida and Hydrocephalus.

    Science.gov (United States)

    Andrews, Robert J.; Elkins, John

    The report describes the population of children in Australia with spina bifida and/or hydrocephalus, notes their needs and characteristics, reviews their school placement and social circumstances, and considers future educational services for them. Initial chapters review the literature on medical, psychoeducational, and social-family aspects of…

  4. Posthemorrhagic Hydrocephalus in Newborns: Clinical Characteristics and Role of Ventriculoperitoneal Shunts

    Directory of Open Access Journals (Sweden)

    Inn-Chi Lee

    2009-02-01

    Conclusion: Patients who were shunt-dependent had worse neurodevelopmental outcomes and greater mortality than those without shunts. The results appeared to depend on how far the hydrocephalus had progressed and on the degree of IVH, but the necessity of VP shunts requires reevaluation before they are implanted.

  5. Medication overuse as a cause of chronic headache in shunted hydrocephalus patients

    DEFF Research Database (Denmark)

    Willer, Lasse; Jensen, R H; Juhler, M

    2010-01-01

    To highlight the group of hydrocephalus patients known to have a long history of shunt revisions and refractory chronic headache. When a shunt in perfect working order has no effect on headache, other causes of headache should be investigated. In this paper, patients with medication overuse...... headache are identified and the positive effect of medication withdrawal are described....

  6. Excess HB-EGF, which promotes VEGF signaling, leads to hydrocephalus

    Science.gov (United States)

    Shim, Joon W.; Sandlund, Johanna; Hameed, Mustafa Q.; Blazer-Yost, Bonnie; Zhou, Feng C.; Klagsbrun, Michael; Madsen, Joseph R.

    2016-01-01

    Heparin binding epidermal growth factor-like growth factor (HB-EGF) is an angiogenic factor mediating radial migration of the developing forebrain, while vascular endothelial growth factor (VEGF) is known to influence rostral migratory stream in rodents. Cell migratory defects have been identified in animal models of hydrocephalus; however, the relationship between HB-EGF and hydrocephalus is unclear. We show that mice overexpressing human HB-EGF with β-galactosidase reporter exhibit an elevated VEGF, localization of β-galactosidase outside the subventricular zone (SVZ), subarachnoid hemorrhage, and ventriculomegaly. In Wistar polycystic kidney rats with hydrocephalus, alteration of migratory trajectory is detected. Furthermore, VEGF infusions into the rats result in ventriculomegaly with an increase of SVZ neuroblast in rostral migratory stream, whereas VEGF ligand inhibition prevents it. Our results support the idea that excess HB-EGF leads to a significant elevation of VEGF and ventricular dilatation. These data suggest a potential pathophysiological mechanism that elevated HB-EGF can elicit VEGF induction and hydrocephalus. PMID:27243144

  7. Craniocervical Junction Meningiomas without Hydrocephalus Presenting Solely with Syncope: Report of 2 Cases.

    Science.gov (United States)

    Champagne, Pierre-Olivier; Bojanowski, Michel W

    2018-06-01

    To our knowledge, there have not been any reported cases of a meningioma of the craniocervical region presenting solely with syncope as its initial symptom. Only 1 case of meningioma presenting with syncope has been published, but it was associated with hydrocephalus. We report 2 cases of syncope caused by a craniocervical junction meningioma, with syncope being the sole presenting symptom and without hydrocephalus. We discuss the possible pathophysiology, as well as the clinical relevance of this type of presentation. We reviewed the charts, operative details, and imagery of 2 cases of meningioma in the region of the craniocervical junction, with syncope as their sole presenting feature. We also reviewed the literature. In 1 case the syncope occurred spontaneously. In the other, it occurred during a Valsalva maneuver. Both meningiomas were surgically removed via a retromastoid approach. There was no recurrence of syncope following surgery. Following a literature review, we found 1 case of posterior fossa meningioma presenting with syncope, but hydrocephalus was also present. Syncope can be the sole manifestation of a meningioma of the craniocervical junction. Such syncopes are a consequence of transient dysfunction of the autonomous pathways in the medulla and/or of the medulla's output. In the absence of other causes of syncope, a meningioma in this region, even in the absence of hydrocephalus, should not be considered as fortuitous, but rather as the actual cause of syncope. Recognizing this possibility offers the potential for proper diagnosis and appropriate treatment of the syncope. Copyright © 2018 Elsevier Inc. All rights reserved.

  8. Bilateral oblique facial clefts, rudimentary eyes and hydrocephalus in an aborted equine foetus

    DEFF Research Database (Denmark)

    Agerholm, Jørgen Steen; Pedersen, Hanne Gervi; McEvoy, Fintan

    2017-01-01

    and hydrocephalus is reported in an equine foetus spontaneously aborted at gestation day 224. The cause of abortion was considered to be intrauterine death caused by umbilical cord torsions and subsequent compromised blood flow, but the aetiology of the malformation could not be determined. A detailed history...

  9. [Genetic aspects in congenital hypothyrodism].

    Science.gov (United States)

    Perone, Denise; Teixeira, Silvânia S; Clara, Sueli A; Santos, Daniela C dos; Nogueira, Célia R

    2004-02-01

    Congenital hypothyroidism (CH) affects between 1:3,000 and 1:4,000 newborns. Many genes are essential for normal development of the hypothalamus-pituitary-thyroid axis and hormone production, and are associated with CH. About 85% of primary hypothyroidism is called thyroid digenesis and evidence suggests that mutations in transcription factors (TTF2, TTF1, and PAX-8) and TSH receptor gene could be responsible for the disease. Genetic defects of hormone synthesis could be caused by mutations in the following genes: NIS (natrium-iodide symporter), pendrine, thyreoglobulin (TG), peroxidase (TPO). Recently, mutations in the THOX-2 gene have also been related to organification defects. Central hypothyroidism affects about 1:20,000 newborns and has been associated with mutations in pituitary transcriptional factors (POUIF1, PROP1, LHX3, and HESX1). The syndrome of resistance to thyroid hormone is rare, implies a hypothyroidism state for some tissues and is frequently associated with dominant autosomal mutations in the beta-receptor (TRss).

  10. Cine MR CSF flow study in hydrocephalus: What are the valuable parmeters?

    International Nuclear Information System (INIS)

    Choi, Hye Young; Kim, Myung Hyun

    1997-01-01

    To evaluate the changes in diagnosis of intracranial cerebrospinal fluid (CSF) dynamics in the hydrocephalus, we studied the various parameters of cine phase contrast (PC) magnetic resonance (MR) CSF flow images in cases of acutely progressive hydrocephalus, comparing them with those in normal CSF circulation. The MR images were obtained with a 1.5T (GE Signa, GE Medical Systems, Milwaukee, USA) unit using the 2 dimensional cine PC sequence with peripheral gating and gradient recalled echo imaging in ten cases of non-obstructive hydrocephalus(NOH), three of obstructive hydrocephalus(OH), and ten controls. The time-echo time-flip angle employed were 50 to 80 msec-11 to 15 msec-12 to 15 degrees. Temporal velocity information relating to cervical pericord CSF spaces, third and fourth ventricles, and the aqueduct were plotted as wave forms which were then analyzed for configuration, amplitude parameters(Vmax, Vmin, Vdif), and temporal parameters(R-S, R-SMV, R-D, R-DMV). The statistical significance of each parameter was examined using the paired t-test. All patients with OH underwent endoscopic third ventriculostomy, whereas all with NOH underwent shunting procedures. In five ROIs, distinct reproducible configuration features were obtained at aqueduct and cervical pericord spaces, but not at ventricular levels. We determined the statistically significant differences between controls and hydrocephalus patients using temporal, rather than amplitude parameters. In NOH, the graph showed R-DMV shortening (p<0.01) at the anterior cervical pericord space. In OH, there were R-DMV shortening (p<0.05) was seen at the anterior cervical pericord space, and R-DMV shortening (p<0.02) at the posterior cervical pericord space. In one case of OH, a typical change of configuration, mirror image, was obtained at aqueduct level, and in all OH cases, the level of obstruction could be determined. The results of cine PC MR CSF flow study may be valuable for points for determining the level

  11. Congenital Cytomegalovirus Infection After Recurrent Maternal Infection: Report of a Case

    Directory of Open Access Journals (Sweden)

    Özgür Olukman

    2005-06-01

    Full Text Available Cytomegalovirus (CMV is a double- stranded DNA virus in the Herpesvirus family, and it is a common cause of congenital viral infections. Congenital CMV infection is transmitted from the mother with viremia to the fetus via the placenta. Disease may result from a primary or recurrent maternal infection but the former is a common cause of severe disease. The risk for fetal infection is grater in primary maternal infection. We report a newborn infant with symptomatic congenital CMV infection associated with\trecurrent maternal infection.

  12. Neonatal posthemorrhagic hydrocephalus from prematurity: pathophysiology and current treatment concepts

    Science.gov (United States)

    Robinson, Shenandoah

    2013-01-01

    Object Preterm infants are at risk for perinatal complications, including germinal matrix–intraventricular hemorrhage (IVH) and subsequent posthemorrhagic hydrocephalus (PHH). This review summarizes the current understanding of the epidemiology, pathophysiology, management, and outcomes of IVH and PHH in preterm infants. Methods The MEDLINE database was systematically searched using terms related to IVH, PHH, and relevant neurosurgical procedures to identify publications in the English medical literature. To complement information from the systematic search, pertinent articles were selected from the references of articles identifed in the initial search. Results This review summarizes the current knowledge regarding the epidemiology and pathophysiology of IVH and PHH, primarily using evidence-based studies. Advances in obstetrics and neonatology over the past few decades have contributed to a marked improvement in the survival of preterm infants, and neurological morbidity is also starting to decrease. The incidence of IVH is declining, and the incidence of PHH will likely follow. Currently, approximately 15% of preterm infants who suffer severe IVH will require permanent CSF diversion. The clinical presentation and surgical management of symptomatic PHH with temporary ventricular reservoirs (ventricular access devices) and ventriculosubgaleal shunts and permanent ventriculoperitoneal shunts are discussed. Preterm infants who develop PHH that requires surgical treatment remain at high risk for other related neurological problems, including cerebral palsy, epilepsy, and cognitive and behavioral delay. This review highlights numerous opportunities for further study to improve the care of these children. Conclusions A better grasp of the pathophysiology of IVH is beginning to impact the incidence of IVH and PHH. Neonatologists conduct rigorous Class I and II studies to advance the outcomes of preterm infants. The need for well-designed multicenter trials is

  13. Endoscopic Third Ventriculostomy for the Treatment of Hydrocephalus in a Pediatric Population with Myelomeningocele.

    Science.gov (United States)

    Rei, Joana; Pereira, Josué; Reis, Carina; Salvador, Sérgio; Vaz, Rui

    2017-09-01

    Hydrocephalus develops in up to 90% of patients born with myelomeningocele. Although endoscopic third ventriculostomy (ETV) is currently considered the preferred treatment for obstructive hydrocephalus, its results have been inconsistent in patients with myelomeningocele. This study focuses on clinical and radiologic outcomes of ETV in children with hydrocephalus related to myelomeningocele. Medical records of 18 pediatric patients with myelomeningocele treated with ETV from 1998 to 2015 at the Centro Hospitalar São João (Porto, Portugal) were reviewed retrospectively. Patients' caregivers were contacted to evaluate their clinical manifestations before and after surgery regarding signs and symptoms of hydrocephalus and Chiari malformation. Control neuroradiologic imaging of 9 patients was obtained and analyzed. Success of ETV was defined by clinical resolution and radiologic confirmation. ETV was successful in 8 of 18 cases (44.4%). Groups of patients were compared according to age at the time of surgery, with a 40% (2/5) success rate in newborns and a 50% success rate (3/6) in children older than 1 year. Eight patients underwent ETV as a first option, with a 37.5% success rate. Ten patients underwent the procedure after previous ventriculoperitoneal shunt (VPS), 5 for malfunction and 5 for VPS infection with 60% and 40% success rates, respectively. Early postoperative complications occurred in 2 patients. ETV can be performed in patients with myelomeningocele and hydrocephalus with success rates of almost 50%. Prior VPS or VPS malfunction or infection do not contraindicate ETV. If possible, the procedure should be delayed until the patient is at least 1 month old. Copyright © 2017 Elsevier Inc. All rights reserved.

  14. Congenital absence of the portal vein presenting as pulmonary hypertension

    International Nuclear Information System (INIS)

    Jun, Sur Young; Lee, Whal; Cheon, Jung Eun; Kim, Woo Sun; Kim, In One; Yeon, Kyung Mo

    2007-01-01

    Congenital absence of the portal vein (CAPV) is a rare malformation in which intestinal and splenic venous flow bypasses the liver and drains directly into the systemic circulation via a congenital portosystemic shunt. We describe two cases of CAPV presenting as pulmonary hypertension that were initially suspected as primary pulmonary hypertension. However, subsequent ultrasonography and CT detected the absence of a portal vein and the presence of a portosystemic shunt. Pulmonary hypertension is a recognized complication of liver disease and portal hypertension. However, these two cases illustrate that CAPV may result in pulmonary hypertension without liver disease or portal hypertension

  15. Congenital hypothyroidism and concurrent renal insufficiency in a kitten

    Directory of Open Access Journals (Sweden)

    Chee Kin Lim

    2014-11-01

    Full Text Available A 3-month-old male domestic short-hair kitten was presented with chronic constipation and disproportionate dwarfism. Radiographs of the long bones and spine revealed delayed epiphyseal ossification and epiphyseal dysgenesis. Diagnosis of congenital primary hypothyroidism was confirmed by low serum total thyroxine and high thyroid stimulating hormone concentrations. Appropriate supplementation of levothyroxine was instituted. The kitten subsequently developed mild renal azotaemia and renal proteinuria, possibly as a consequence of treatment or an unmasked congenital renal developmental abnormality. Early recognition, diagnosis and treatment are vital as alleviation of clinical signs may depend on the cat’s age at the time of diagnosis.

  16. Congenital hypothyroidism and concurrent renal insufficiency in a kitten.

    Science.gov (United States)

    Lim, Chee Kin; Rosa, Chantal T; de Witt, Yolanda; Schoeman, Johan P

    2014-11-14

    A 3-month-old male domestic short-hair kitten was presented with chronic constipation and disproportionate dwarfism. Radiographs of the long bones and spine revealed delayed epiphyseal ossification and epiphyseal dysgenesis. Diagnosis of congenital primary hypothyroidism was confirmed by low serum total thyroxine and high thyroid stimulating hormone concentrations. Appropriate supplementation of levothyroxine was instituted. The kitten subsequently developed mild renal azotaemia and renal proteinuria, possibly as a consequence of treatment or an unmasked congenital renal developmental abnormality. Early recognition, diagnosis and treatment are vital as alleviation of clinical signs may depend on the cat's age at the time of diagnosis.

  17. Congenital absence of the portal vein presenting as pulmonary hypertension

    Energy Technology Data Exchange (ETDEWEB)

    Jun, Sur Young; Lee, Whal; Cheon, Jung Eun; Kim, Woo Sun; Kim, In One; Yeon, Kyung Mo [Seoul National University Hospital, Seoul (Korea, Republic of)

    2007-11-15

    Congenital absence of the portal vein (CAPV) is a rare malformation in which intestinal and splenic venous flow bypasses the liver and drains directly into the systemic circulation via a congenital portosystemic shunt. We describe two cases of CAPV presenting as pulmonary hypertension that were initially suspected as primary pulmonary hypertension. However, subsequent ultrasonography and CT detected the absence of a portal vein and the presence of a portosystemic shunt. Pulmonary hypertension is a recognized complication of liver disease and portal hypertension. However, these two cases illustrate that CAPV may result in pulmonary hypertension without liver disease or portal hypertension.

  18. Fetal chromosome abnormalities and congenital malformations: an ...

    African Journals Online (AJOL)

    The results also showed that Multiple congenital anomalies (MCA) represented among 42.2%, congenital malformation of CNS represents 26.6%, congenital malformation of the skeletal system 20%, congenital polycystic kidney 8.8% and pyloric stenosis in 2.2%. Among the 21 women with abnormal karyotype of amniotic ...

  19. Genetics Home Reference: critical congenital heart disease

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Critical congenital heart disease Critical congenital heart disease Printable PDF Open All Close All ... for Disease Control and Prevention: Congenital Heart Defects Disease InfoSearch: Congenital Heart Defects KidsHealth from Nemours Lucile Packard Children's ...

  20. General Concepts in Adult Congenital Heart Disease.

    Science.gov (United States)

    Mutluer, Ferit Onur; Çeliker, Alpay

    2018-01-20

    Congenital heart disease in adults (adult congenital heart disease) is a growing burden for healthcare systems. While infant mortality due to congenital heart disease in the last four decades decreased by almost 3-fold, adult congenital heart disease prevalence increased by more than 2-fold in United States. Adult congenital heart disease prevalence is expected to increase steadily until 2050 in projections. Adult congenital heart disease is a multifaceted problem with many dimensions. This manuscript aims to provide an overview of the common adult congenital heart diseases and summarize important points in management of these diseases with possible problems and complications that the patients and the physicians face.