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Sample records for macrocephaly-capillary malformation m-cm

  1. Tetralogy of Fallot associated with macrocephaly-capillary malformation syndrome: a case report and review of the literature

    OpenAIRE

    2009-01-01

    Abstract Introduction Macrocephaly-capillary malformation syndrome is characterized by cutaneous vascular lesions, including cutis marmorata telangiectatica and hemangiomas, associated with congenital anomalies, including macrocephaly, macrosomia, asymmetry and mental retardation. In addition to these cardinal signs, several other clinical conditions have been reported in people with this condition. However, to the best of our knowledge, the presence of tetralogy of Fallot has not previously ...

  2. Brain Malformations

    Science.gov (United States)

    Most brain malformations begin long before a baby is born. Something damages the developing nervous system or causes it ... medicines, infections, or radiation during pregnancy interferes with brain development. Parts of the brain may be missing, ...

  3. Gastrointestinal malformations

    DEFF Research Database (Denmark)

    Garne, Ester; Loane, Maria; Dolk, Helen;

    2007-01-01

    of mortality for the prenatally diagnosed infants. Clinicians need to balance the risk of early delivery against the benefits of clinical convenience when making case management decisions after prenatal diagnosis. Very few studies have been able to show benefits of prenatal diagnosis of congenital...... malformations for liveborn infants. This may be because the benefits of prenatal diagnosis are outweighed by the problems arising from a lower GA at birth....

  4. Anorectal malformations

    Directory of Open Access Journals (Sweden)

    Peña Alberto

    2007-07-01

    Full Text Available Abstract Anorectal malformations comprise a wide spectrum of diseases, which can affect boys and girls, and involve the distal anus and rectum as well as the urinary and genital tracts. They occur in approximately 1 in 5000 live births. Defects range from the very minor and easily treated with an excellent functional prognosis, to those that are complex, difficult to manage, are often associated with other anomalies, and have a poor functional prognosis. The surgical approach to repairing these defects changed dramatically in 1980 with the introduction of the posterior sagittal approach, which allowed surgeons to view the anatomy of these defects clearly, to repair them under direct vision, and to learn about the complex anatomic arrangement of the junction of rectum and genitourinary tract. Better imaging techniques, and a better knowledge of the anatomy and physiology of the pelvic structures at birth have refined diagnosis and initial management, and the analysis of large series of patients allows better prediction of associated anomalies and functional prognosis. The main concerns for the surgeon in correcting these anomalies are bowel control, urinary control, and sexual function. With early diagnosis, management of associated anomalies and efficient meticulous surgical repair, patients have the best chance for a good functional outcome. Fecal and urinary incontinence can occur even with an excellent anatomic repair, due mainly to associated problems such as a poorly developed sacrum, deficient nerve supply, and spinal cord anomalies. For these patients, an effective bowel management program, including enema and dietary restrictions has been devised to improve their quality of life.

  5. Split Cord Malformations

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    Yurdal Gezercan

    2015-06-01

    Full Text Available Split cord malformations are rare form of occult spinal dysraphism in children. Split cord malformations are characterized by septum that cleaves the spinal canal in sagittal plane within the single or duplicated thecal sac. Although their precise incidence is unknown, split cord malformations are exceedingly rare and represent %3.8-5 of all congenital spinal anomalies. Characteristic neurological, urological, orthopedic clinical manifestations are variable and asymptomatic course is possible. Earlier diagnosis and surgical intervention for split cord malformations is associated with better long-term fuctional outcome. For this reason, diagnostic imaging is indicated for children with associated cutaneous and orthopedic signs. Additional congenital anomalies usually to accompany the split cord malformations. Earlier diagnosis, meticuolus surgical therapy and interdisciplinary careful evaluation and follow-up should be made for good prognosis. [Cukurova Med J 2015; 40(2.000: 199-207

  6. Cerebral palsy and congenital malformations

    DEFF Research Database (Denmark)

    Garne, Ester; Dolk, Helen; Krägeloh-Mann, Inge

    2007-01-01

    AIM: To determine the proportion of children with cerebral palsy (CP) who have cerebral and non-cerebral congenital malformations. METHODS: Data from 11 CP registries contributing to the European Cerebral Palsy Database (SCPE), for children born in the period 1976-1996. The malformations were...... classified as recognized syndromes, chromosomal anomalies, cerebral malformations or non-cerebral malformations. Prevalence of malformations was compared to published data on livebirths from a European database of congenital malformations (EUROCAT). RESULTS: Overall 547 out of 4584 children (11.9%) with CP...... were reported to have a congenital malformation. The majority (8.6% of all children) were diagnosed with a cerebral malformation. The most frequent types of cerebral malformations were microcephaly and hydrocephaly. Non-cerebral malformations were present in 97 CP children and in further 14 CP children...

  7. Congenital Vascular Malformation

    Science.gov (United States)

    ... also be effective for small, localized birthmarks (port wine stains). Patients with a rare venous malformation (Kleppel– ... 3) non-profit organization focused on providing public education and improving awareness about vascular diseases. For more ...

  8. Pulmonary Arteriovenous Malformations

    DEFF Research Database (Denmark)

    Kjeldsen, A D; Oxhøj, H; Andersen, P E

    1999-01-01

    Hereditary hemorrhagic telangiectasia (HHT) is a dominantly inherited disease with a high prevalence of pulmonary arteriovenous malformations (PAVMs). The first symptom of HHT may be stroke or fatal hemoptysis associated with the presence of PAVM....

  9. Rare malformation of glans penis: arteriovenous malformation.

    Science.gov (United States)

    Akin, Y; Sarac, M; Yucel, S

    2013-01-01

    Pediatric glans penis malformations, especially arteriovenous malformations (AVM), are very rare. Herein, we report two rare cases. A 14-year-old boy attended our outpatient clinic with chief complaints of purple swelling and rapidly growing lesion on the glans penis. The lesion was excised surgically after physical and radiological evaluations. Pathology reported AVM and the patient is being followed up. The second case is a 2-year-old boy who was admitted with a big lesion involving glans penis and genital area that has been present since birth. In physical and radiological evaluations, lesion on the glans penis was pulsatile. Parents of the patient did not want any surgery and patient has been in follow-up. Diagnosis of the vascular lesions on glans penis is very easy by physical and radiological examinations today. Long-term follow-up is very important for AVM. Clinicians must make a careful effort to document new glans lesions in the pediatric population and decrease anxiety in the parents of affected children.

  10. Familial Brain Arteriovenous Malformations

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2007-11-01

    Full Text Available Researchers at University Medical Centre Utrecht, the Netherlands, reviewed the literature on patients with familial brain arteriovenous malformations (BAVMs, and their age, sex, and clinical presentation were compared with those in population-based patients with sporadic BAVMs.

  11. Proteus Syndrome with Arteriovenous Malformation

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    Ali Asilian

    2017-01-01

    Full Text Available Proteus syndrome is a rare sporadic disorder that appears with localized macrosomia, congenital lipomatosis, and slow flow vascular malformations, connective tissue nevus, and epidermal nevus. There are usually some manifestations at birth. The vascular abnormalities that have been reported in Proteus syndrome are capillary and slow flow venous malformation. We report a case of a 10-year-old boy with confirmed Proteus syndrome characterized by high flow vascular malformation (arteriovenous [AV] malformation unlike the usual vascular malformations seen in this syndrome. This case adds a new perspective to the established clinical findings of the Proteus syndrome.

  12. Familial Chiari malformation: case series.

    Science.gov (United States)

    Schanker, Benjamin D; Walcott, Brian P; Nahed, Brian V; Kahle, Kristopher T; Li, Yan Michael; Coumans, Jean-Valery C E

    2011-09-01

    Chiari malformations (Types I-IV) are abnormalities of the posterior fossa that affect the cerebellum, brainstem, and the spinal cord with prevalence rates of 0.1%-0.5%. Case reports of familial aggregation of Chiari malformation, twin studies, cosegregation of Chiari malformation with known genetic conditions, and recent gene and genome-wide association studies provide strong evidence of the genetic underpinnings of familial Chiari malformation. The authors report on a series of 3 family pairs with Chiari malformation Type I: 2 mother-daughter pairs and 1 father-daughter pair. The specific genetic causes of familial Chiari malformation have yet to be fully elucidated. The authors review the literature and discuss several candidate genes. Recent advances in the understanding of the genetic influences and pathogenesis of familial Chiari malformation are expected to improve management of affected patients and monitoring of at-risk family members.

  13. Cerebral malformations without antenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Girard, Nadine J. [Diagnostic Neuroradiology, Hopital Timone, Marseille (France)

    2010-06-15

    Cerebral malformations are usually described following the different steps in development. Disorders of neurulation (dysraphisms), or diverticulation (holoprosencephalies and posterior fossa cysts), and total commissural agenesis are usually diagnosed in utero. In contrast, disorders of histogenesis (proliferation-differentiation, migration, organization) are usually discovered in infants and children. The principal clinical symptoms that may be a clue to cerebral malformation include congenital hemiparesis, epilepsy and mental or psychomotor retardation. MRI is the imaging method of choice to assess cerebral malformations. (orig.)

  14. Prevalence of Congenital Malformations

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    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. Classification and diagnosis of ear malformations

    OpenAIRE

    Bartel-Friedrich, Sylva; Wulke, Cornelia

    2008-01-01

    In the ENT region 50% of the malformations affect the ear. Malformations of the outer and middle ear are predominantly unilateral (ca. 70-90%) and mostly involve the right ear. Inner ear malformations can be unilateral or bilateral. The incidence of ear malformations is approximately 1 in 3800 newborns. Ear malformations may be genetic (associated with syndromes or not, with family history, spontaneous mutations) or acquired in nature. Malformations can affect the outer ear (pinna and externa...

  16. Anorectal malformations : A multidisciplinary approach

    NARCIS (Netherlands)

    D. van den Hondel (Desiree)

    2015-01-01

    markdownabstractAbstract The research described in this thesis was performed with the aim to evaluate and improve multidisciplinary treatment of anorectal malformation patients. An overview of current literature on treatment of anorectal malformations is given in the Preface section, which also inc

  17. Management of venous malformations.

    Science.gov (United States)

    Richter, Gresham T; Braswell, Leah

    2012-12-01

    Venous malformations (VMs) frequently occur in the head and neck with a predilection for the parotid gland, submandibular triangle, buccal space, muscles of mastication, lips, and upper aerodigestive tract. They are composed of congenitally disrupted ectatic veins with inappropriate connections and tubular channels. Because VMs have poorly defined boundaries and a tendency to infiltrate normal tissue, they require calculated treatment decisions in the effort to preserve surrounding architecture. Sclerotherapy, surgical excision, neodymium:yttrium aluminum garnet laser therapy, or a combination of these modalities is employed in the management of VMs. Although many small VMs can be cured, the objective is often to control the disease with periodic therapy. Location, size, and proximity to vital structures dictate the type of therapy chosen. Vigilance with long-term follow up is important. This review outlines current diagnostic and therapeutic approaches to simple and extensive cervicofacial VMs. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  18. Cerebellar Malformations and Cognitive Disdorders

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2007-10-01

    Full Text Available The behavioral developmental profile of 27 children and adults (17 males and 10 females with congenital cerebellar malformations was determined in a clinical, neuroradiological and neuropsychological study at the Scientific Institute 'E Medea', University of Milano, Italy.

  19. Anorectal malformations in neonates

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    Bilal Mirza

    2011-01-01

    Full Text Available Background : Anorectal malformations (ARM are associated with congenital anomalies and other risk factors, yielding a poor prognosis, especially in neonatal life. Objectives: This study was performed to identify the congenital anomalies as a factor of poor prognosis (mortality in such patients. Settings: Department of Pediatric surgery, The Children′s Hospital and The Institute of Child Health, Lahore. Design: Prospective observational study, with statistical support. Materials and Methods: The information on the demography, clinical features, investigations, management performed, and outcome was entered in the designed proforma and analysed with the help of statistical software EpiInfo version 3.5.1. Statistical test: Chi-square test was used to determine statistical significance of the results. Results : Of 100 neonates with ARM, 77 were male and 23, female (3.4:1. The mean age at presentation was 3.4 days (range, 12 hrs to 28 days. In 60 patients (60%, the presentation was imperforate anus without a clinically identified fistula. In 28 patients (28%, associated anomalies were present. The common associated anomalies were urogenital (10%, cardiovascular (8%, and gastrointestinal (6%. Down′s syndrome was present in 8 (8% patients. A total of 15 (15% deaths occurred in this study. In patients having associated congenital anomalies, 11 deaths occurred, whereas, 4 deaths were in patients without associated anomalies (P < 0.5. Conclusion : The mortality is higher in neonates with ARM having associated congenital anomalies.

  20. Arteriovenous Malformation of the Pancreas

    Directory of Open Access Journals (Sweden)

    Alexandros Charalabopoulos

    2011-01-01

    Full Text Available Pancreatic arteriovenous malformation (PAVM is a very rare and mostly congenital lesion, with less than 80 cases described in the English-published literature. It is defined as a tumorous vascular abnormality that is constructed between an anomalous bypass anastomosis of the arterial and venous networks within the pancreas. It represents about 5% of all arteriovenous malformations found in the gastrointestinal tract. Herein, we present a 64-year-old patient with symptomatic PAVM involving the body and tail of the organ, which was successfully treated by transcatheter arterial embolization. The disease spectrum and review of the literature are also presented.

  1. Pediatric central nervous system vascular malformations

    Energy Technology Data Exchange (ETDEWEB)

    Burch, Ezra A. [Brigham and Women' s Hospital, Department of Radiology, Boston, MA (United States); Orbach, Darren B. [Boston Children' s Hospital, Neurointerventional Radiology, Boston, MA (United States)

    2015-09-15

    Pediatric central nervous system (CNS) vascular anomalies include lesions found only in the pediatric population and also the full gamut of vascular lesions found in adults. Pediatric-specific lesions discussed here include infantile hemangioma, vein of Galen malformation and dural sinus malformation. Some CNS vascular lesions that occur in adults, such as arteriovenous malformation, have somewhat distinct manifestations in children, and those are also discussed. Additionally, children with CNS vascular malformations often have associated broader vascular conditions, e.g., PHACES (posterior fossa anomalies, hemangioma, arterial anomalies, cardiac anomalies, eye anomalies and sternal anomalies), hereditary hemorrhagic telangiectasia, and capillary malformation-arteriovenous malformation syndrome (related to the RASA1 mutation). The treatment of pediatric CNS vascular malformations has greatly benefited from advances in endovascular therapy, including technical advances in adult interventional neuroradiology. Dramatic advances in therapy are expected to stem from increased understanding of the genetics and vascular biology that underlie pediatric CNS vascular malformations. (orig.)

  2. Contemporary diagnosis of venous malformation

    Directory of Open Access Journals (Sweden)

    Lee BB

    2013-11-01

    Full Text Available BB Lee,1 I Baumgartner21Department of Surgery, George Washington University, Washington, DC, USA; 2Swiss Cardiovascular Center, University Hospital Bern, Bern, SwitzerlandAbstract: Venous malformation is a congenital vascular malformation resulting from defective development during various stages of embryogenesis and selectively affecting the venous system. Depending on the embryologic stage when the developmental arrest occurred, the clinical presentation of venous malformation is extremely variable in location, extent, severity, natural progression, and hemodynamic impact. Extratruncular lesions occur in the earlier stages of embryonic life, and retain characteristics unique to mesenchymal cells (angioblasts, growing and proliferating when stimulated internally (eg, by menarche, pregnancy, and hormones or externally (eg, by trauma or surgery. These lesions also have a significant hemodynamic impact on the venous system involved, in addition to the risk of localized intravascular coagulopathy. However, truncal lesions, as defective developments along the late stage, no longer carry the risk of proliferation and recurrence due to lack of mesenchymal characteristics. Although, they often have serious hemodynamic consequences due to direct involvement of the main vein trunk. Therefore, a thorough clinical history and careful physical examination should be followed by an appropriate combination of noninvasive and less invasive tests (eg, Doppler ultrasonography, magnetic resonance imaging, computed tomography to confirm the clinical impression as well as to define the extent and severity of the venous malformation. Invasive tests, eg, phlebography or angiography, are seldom needed for the diagnosis per se. Additional evaluation for coagulation abnormalities, eg, D-dimer and fibrinogen levels, is generally recommended, especially for the treatment of surgery and endovascular candidates with extensive lesions to assess the localized intravascular

  3. Classification and diagnosis of ear malformations

    Directory of Open Access Journals (Sweden)

    Bartel-Friedrich, Sylva

    2007-01-01

    Full Text Available In the ENT region 50% of the malformations affect the ear. Malformations of the outer and middle ear are predominantly unilateral (ca. 70-90% and mostly involve the right ear. Inner ear malformations can be unilateral or bilateral. The incidence of ear malformations is approximately 1 in 3800 newborns. Ear malformations may be genetic (associated with syndromes or not, with family history, spontaneous mutations or acquired in nature. Malformations can affect the outer ear (pinna and external auditory canal, EAC, middle ear and inner ear, not infrequently in combination. Formal classification is advisable in order to be able to predict the prognosis and compare treatment schedules. Various classifications have been proposed: pinna and EAC malformations according to Weerda [1], middle ear malformations according to Kösling [2], and inner ear malformations according to Jackler [3], [4], to Marangos [5] and to Sennaroglu [6]. Additionally, we describe Altmann’s classification of atresia auris congenita [7] and the Siegert-Mayer-Weerda score [8] for EAC and middle ear malformations, systems of great practicability that are in widespread clinical use. The diagnostic steps include clinical examination, audiological testing, genetic analysis and, especially, CT and MRI. These imaging methods are most usefully employed in combination. Precise description of the malformations by means of CT and MRI is indispensable for the planning and successful outcome of operative ear reconstruction and rehabilitation procedures, including cochlear implantation.

  4. Prenatal diagnosis of cloacal malformation.

    Science.gov (United States)

    Peiro, Jose L; Scorletti, Federico; Sbragia, Lourenco

    2016-04-01

    Persistent cloaca malformation is the most severe type of anorectal and urogenital malformation. Decisions concerning the surgical treatment for this condition are taken during the first hours of life and may determine the quality of life of these patients. Thus, prenatal diagnosis becomes important for a prompt and efficient management of the fetus and newborn, and accurate counseling of the parents regarding its consequences and the future of the baby. Careful evaluation by ultrasonography, and further in-depth analysis with MRI, allow prenatal detection of characteristic findings, which can lead to diagnose or at least suspect this condition. We reviewed our experience and the literature in order to highlight the most important clues that can guide the physician in the differential diagnosis. Copyright © 2016 Elsevier Inc. All rights reserved.

  5. CLINICAL STUDY OF ANORECTAL MALFORMATIONS

    Directory of Open Access Journals (Sweden)

    Umesh

    2015-01-01

    Full Text Available BACKGROUND: A norectal malformations are relatively encountered anomalies. Presentations may vary from mild to severe and bowel control is t he main concern. AIM: To study the modes of presentation , types of anomalies , associated anomalies , reliability of clinical signs and radiological investigations in the diagnosis and the prognosis and continence in the post - operative in relation to type of anomaly and associated anomaly (s. MATERIAL AND METHODS: 50 cases of anorectal malformations admit ted to Department of Paediatric Surgery , in Medical Coll ege and Research Institute , were included in the study. Data related to the objectives of the study were collected. RESULTS: Commonest mode of presentation was failure to pass meconium 50%. 59% of mal es had high anomalies , while 53% females had intermediate anomalies. The diagnosis of low anomaly was made clinically , while high and intermediate anomalies needed further investigations. Associated anomalies were noted in 46.6% of the cases. 71.42% of the se patients had either a high or intermediate ARM. All patients with high anomalies underwent a 3 stage procedure , while low anomalies underwent a single stage procedure followed by anal dilatations. Rectal mucosal prolapse (2 cases , wound infection (4 ca ses , stenosis (3 cases , retraction of neo anus (1 case was seen. All the patients with low anomalies had a good functional result post operatively , while 57% and 28% of patients with intermediate and high anomalies had good results. CONCLUSION : Anorectal malformations are common congenital anomalies. Males are more commonly affected (1.3:1. Low anomalies are the commonest lesions noted in both the sexes (36.67%. High anomalies are more frequent in males. Invertogram offer an accurate diagnosis for planning management in patients with anorectal malformations. Low anomalies have a better outcome following surgery. For intermediate and high anomalies a staged repair offers better results

  6. [Congenital malformations: care or predict?].

    Science.gov (United States)

    Pellerin, D

    1993-02-01

    Spectacular scientific and technological advances made in the last decade have had such a profound impact on biological and medical science that they have dramatically modified the citizen's behaviour concerning life events, especially congenital malformation. Prenatal diagnosis (PND) leads to do the diagnosis of almost all fetal internal and external malformations. The matter is, not only to care, but, first to know. The positive efficiency of PND is sometimes preparing the best cares and, of course, to recognize many severe anomalies postnatally diagnosed before PND time, and carrying wellknown 50% rate mortality by neo-natal surgery. Congenital diaphragmatic hernia is pointed out as a good example of it, and of hopes and disappointing in utero foetal surgery. New protocol of assessment of fetal renal function is an appreciated method to do prognosis of some fetal uropathies before late in utero drainage, for a short time waiting for necessary maturation of lungs allowing premature delivery. The possibility to do PND of small and benign malformation leads to ask for the question of utility of to know. In spite of the respect of quality of life, can we really allow this type of human selection to be made? The next knowledges of the human genoma map bring us into the predictive medicine. Using "compulsory" PND is a real risk to practice dangerously, a soft eugenism. PND must be, and remain an outstanding advance to provide better treatment.

  7. Congenital Chiari malformations: A review

    Directory of Open Access Journals (Sweden)

    Vannemreddy Prasad

    2010-01-01

    Full Text Available Chiari malformation is the commonest anomaly of the craniovertebral junction involving both the skeletal as well as the neural structures. This entity has rapidly evolved over the past decade with newer visualization techniques, thus posing new challenges to diagnosis and management. This review includes the developmental theories, the latest nomenclature and existing treatment modalities of this interesting anomaly. Five theories tried to explain the malformation of the hindbrain and the neuraxis but no single theory completes the development of embryonic defects. Several atypical presentations have been reported with either incidental/asymptomatic features resulting in further classifications. The new magnetic resonance imaging flow techniques attempt to substantiate the clinical presentations and correlate with the abnormality which can be subtle in correlation. Surgical correction to improve the cranial volume, decrease the hydrocephalus and improve flow across the foramen magnum is the mainstay but needs to be tailored to a given type of malformation. Further clinical and imageological studies, especially longitudinal natural history, might improve our understanding of the atypical/asymptomatic presentations and the management that is currently available.

  8. Headache in children with Chiari I malformation.

    Science.gov (United States)

    Toldo, Irene; Tangari, Marta; Mardari, Rodica; Perissinotto, Egle; Sartori, Stefano; Gatta, Michela; Calderone, Milena; Battistella, Pier Antonio

    2014-05-01

    Headache is the most common symptom of Chiari 1 malformation, a condition characterized by the herniation of cerebellar tonsils through the foramen magnum. However, the headache pattern of cases with Chiari 1 malformations is not well defined in the literature, especially in children. The aim of this retrospective chart review was to evaluate the frequency and the characteristics of headache in children with Chiari 1 malformation at initial evaluation and during follow up. Forty-five cases with tonsillar ectopia were selected among 9947 cases under 18 years of age who underwent neuroimaging between 2002 and 2010. A semistructured clinical interview (mean follow-up: 5.2 years) was conducted. Headache was classified according to the second edition of the International Classification of Headache Disorders. Possible associations between clinical picture, in particular headache pattern, but also other signs and symptoms attributable to Chiari 1 malformation, and the extent of tonsillar ectopia were found for 3 different groups: those with borderline (headache, and 9/33 (27%) of those patients (5 with mild and 4 with severe tonsillar ectopia) reported headache attributed to Chiari 1 malformation. In our studied pediatric population, the most common symptom for cases diagnosed with Chiari 1 malformation was headache, and headache attributed to Chiari 1 malformation was the most common headache pattern in patients with Chiari 1 malformation. The presence of headache attributed to Chiari 1 malformation along with 3 other signs or symptoms of Chiari 1 malformation were highly predictive of severe tonsillar ectopia. © 2014 American Headache Society.

  9. Spontaneous ileal perforation complicating low anorectal malformation

    Directory of Open Access Journals (Sweden)

    TiJesuni Olatunji

    2015-01-01

    Full Text Available Anorectal malformation is a common anomaly in neonates. Although colorectal perforations have been reported as a complication, ileal perforation is rarely encountered. This is a report of a 2-day-old boy presenting with a low anorectal malformation, complicated with ileal perforation, necessitating laparotomy and ileal repair. Anoplasty was done for the low anomaly. Early presentation and prompt treatment of anorectal malformations is important to prevent such potential life threatening complication.

  10. Congenital malformations of the skull and meninges.

    Science.gov (United States)

    Kanev, Paul M

    2007-02-01

    The surgery and management of children who have congenital malformations of the skull and meninges require multidisciplinary care and long-term follow-up by multiple specialists in birth defects. The high definition of three-dimensional CT and MRI allows precise surgery planning of reconstruction and management of associated malformations. The reconstruction of meningoencephaloceles and craniosynostosis are challenging procedures that transform the child's appearance. The embryology, clinical presentation, and surgical management of these malformations are reviewed.

  11. Magnetic resonance imaging features of complex Chiari malformation variant of Chiari 1 malformation

    Energy Technology Data Exchange (ETDEWEB)

    Moore, Hannah E. [Primary Children' s Medical Center, Department of Medical Imaging, Salt Lake City, UT (United States); Moore, Kevin R. [University of Utah School of Medicine, Department of Radiology, Salt Lake City, UT (United States); Primary Children' s Medical Center, Department of Medical Imaging, Salt Lake City, UT (United States)

    2014-11-15

    Complex Chiari malformation is a subgroup of Chiari 1 malformation with distinct imaging features. Children with complex Chiari malformation are reported to have a more severe clinical phenotype and sometimes require more extensive surgical treatment than those with uncomplicated Chiari 1 malformation. We describe reported MR imaging features of complex Chiari malformation and evaluate the utility of craniometric parameters and qualitative anatomical observations for distinguishing complex Chiari malformation from uncomplicated Chiari 1 malformation. We conducted a retrospective search of the institutional imaging database using the keywords ''Chiari'' and ''Chiari 1'' to identify children imaged during the 2006-2011 time period. Children with Chiari 2 malformation were excluded after imaging review. We used the first available diagnostic brain or cervical spine MR study for data measurement. Standard measurements and observations were made of obex level (mm), cerebellar tonsillar descent (mm), perpendicular distance to basion-C2 line (pB-C2, mm), craniocervical angle (degrees), clivus length, and presence or absence of syringohydromyelia, basilar invagination and congenital craniovertebral junction osseous anomalies. After imaging review, we accessed the institutional health care clinical database to determine whether each subject clinically met criteria for Chiari 1 malformation or complex Chiari malformation. Obex level and craniocervical angle measurements showed statistically significant differences between the populations with complex Chiari malformation and uncomplicated Chiari 1 malformation. Cerebellar tonsillar descent and perpendicular distance to basion-C2 line measurements trended toward but did not meet statistical significance. Odontoid retroflexion, craniovertebral junction osseous anomalies, and syringohydromyelia were all observed proportionally more often in children with complex Chiari malformation than in

  12. Skeletal malformations in fetuses with Meckel syndrome

    DEFF Research Database (Denmark)

    Kjaer, K W; Fischer Hansen, B; Keeling, J W;

    1999-01-01

    four types, based on the number and morphology of metacarpals and metatarsals. In the individual fetus there was more often similarity in the pattern of malformation in the two hands or in the two feet than there was between the pattern of malformation seen in the hands and that seen in the feet. Only...... one foot was normal. Malformations of the cranial base (the basilar part of the occipital bone or the postsphenoid bone) occurred in five cases, and the vertebral bodies in the lumbar region of the spine were malformed (cleft) in three cases. It is proposed that a skeletal analysis be included...

  13. Acquired Chiari malformation type I associated with a supratentorial fistulous arteriovenous malformation: a case report.

    Science.gov (United States)

    Chen, Kuo-Wei; Kuo, Meng-Fai; Lee, Chung-Wei; Tu, Yong-Kwang

    2015-03-01

    A case of acquired Chiari malformation type I with frontal fistulous arteriovenous malformation (AVM) is presented, and the pathophysiology is discussed. The tonsillar herniation and hydrocephalus both resolved after AVM was excised. This case provides some insight into the complex hemodynamic change exerted by the fistulous AVM and the mechanism of the development of acquired Chiari malformation type I.

  14. Chiari II malformation. Pt. 4

    Energy Technology Data Exchange (ETDEWEB)

    Naidich, T.P.; McLone, D.G.; Fulling, K.H.

    1983-08-01

    Computed tomography successfully delineates the multiple components of the Chiari II malformation at the craniocervical junction, the hindbrain, and the cervical spinal cord. These include wide foramen magnum and upper cervical spinal canal; incomplete fusions of the posterior arches of C1 and lower cervical vertebrae; cascading protrusions of vermis, fourth ventricle, medulla, and cervical cord into the spinal canal; cervicomedullary ''kinking''; anterior displacement and sequential sagittal compression of each protrusion by the protrusions posterior to it; compression of all protrusions by the posterior lip of foramen magnum and the posterior arch of C1; and associated cervical hydromyelia, cervical diastematomyelia, and cervical arachnoid cysts.

  15. Four cases of trisomy 18 syndrome with limb reduction malformations.

    OpenAIRE

    Christianson, A L; Nelson, M. M.

    1984-01-01

    Limb reduction malformations of the arms are well documented in the trisomy 18 syndrome. Four cases of trisomy 18 syndrome with limb reduction malformations of the legs are described and compared with the upper limb malformations.

  16. Cerebellar arteriovenous malformations in children

    Energy Technology Data Exchange (ETDEWEB)

    Griffiths, P.D. [Sheffield Univ. (United Kingdom). Acad. Dept. of Radiol.; Blaser, S.; Armstrong, D.; Chuang, S.; Harwood-Nash, D. [Division of Neuroradiology, The Hospital for Sick Children and University of Toronto, Toronto (Canada); Humphreys, R.P. [Division of Neurosurgery, The Hospital for Sick Children and University of Toronto, Toronto (Canada)

    1998-05-01

    We review the presentation, imaging findings and outcome in 18 children with cerebellar arteriovenous malformations (AVM). This group is of particular interest because of the reported poor outcome despite modern imaging and neurosurgical techniques. All children had CT and 15 underwent catheter angiography at presentation. Several of the children in the latter part of the study had MRI. Of the 18 children, 17 presented with a ruptured AVM producing intracranial haemorrhage. The remaining child presented with temporal lobe epilepsy and was shown to have temporal, vermian and cerebellar hemisphere AVM. This child had other stigmata of Osler-Weber-Rendu syndrome. Three other children had pre-existing abnormalities of possible relevance. One had a vascular malformation of the cheek and mandible, one a documented chromosomal abnormality and another a midline cleft upper lip and palate. Six of the 17 children with a ruptured cerebellar AVM died within 7 days of the ictus. Vascular pathology other than an AVM was found in 10 of the 14 children with a ruptured cerebellar AVM who had angiography: 4 intranidal aneurysms, 5 venous aneurysms and 2 cases of venous outflow obstruction (one child having both an aneurysm and obstruction). The severity of clinical presentation was directly related to the size of the acute haematoma, which was a reasonable predictor of outcome. (orig.) With 4 figs., 4 tabs., 23 refs.

  17. Subfascial involvement in glomuvenous malformation

    Energy Technology Data Exchange (ETDEWEB)

    Shaikh, Raja; Alomari, Ahmad I.; Chaudry, Gulraiz [Boston Children' s Hospital, Division of Interventional Radiology, Boston, MA (United States); Mulliken, John B. [Boston Children' s Hospital, Division of Plastic Surgery, Boston, MA (United States); Fishman, Steven J. [Boston Children' s Hospital, Department of Surgery, Boston, MA (United States); Kozakewich, Harry P.W. [Boston Children' s Hospital, Department of Pathology, Boston, MA (United States)

    2014-07-15

    Glomuvenous malformation (GVM) is an inherited autosomal dominant trait. The lesions, which appear as bluish nodules or plaque-like cutaneous elevations, are usually tender and more firm than sporadic venous malformations. Conventionally, the lesions are thought to be limited to the cutaneous and subcutaneous tissue planes. The objective was to characterize the depth of involvement of GVM lesions. Magnetic resonance imaging (MRI) findings in GVM were retrospectively evaluated by two radiologists. The signal characteristics, tissue distribution, pattern of contrast enhancement of the lesions in GVM were documented. Thirty patients (19 female) aged 1-35 years (mean 18 years) were diagnosed with GVM based on clinical features (n = 20) and/or histopathological findings (n = 10). The lesions were present in the lower extremity (n = 15), upper extremity (n = 6), cervico-facial region (n = 6), pelvis (n = 2), and chest wall (n = 1). All patients had skin and subcutaneous lesions. Fifty percent of the patients (n = 15) demonstrated subfascial intramuscular (n = 15), intra-osseous (n = 1), and intra-articular involvement (n = 1). Contrary to the conventional belief that GVMs are generally limited to the skin and subcutaneous tissue, deep subfascial extension of the lesions is common. (orig.)

  18. Vascular tumors and malformations of the colon

    Institute of Scientific and Technical Information of China (English)

    Israel Fernandez-Pineda

    2009-01-01

    The term "hemangioma" refers to the common tumor of infancy that exhibits rapid postnatal growth and slow regression during childhood. It may cause confusion with venous malformations that are often incorrectly called "cavernous hemangioma". Venous malformations comprise abnormally formed channels that are lined by quiescent endothelium. Accurate diagnosis is required for selecting the appropriate treatment.

  19. Cerebral malformations in Carpenter syndrome.

    Science.gov (United States)

    Taravath, S; Tonsgard, J H

    1993-01-01

    The inherited forms of craniosynostosis can be divided into 4 groups: isolated craniosynostosis, craniosynostosis with syndactyly, craniosynostosis with polydactyly and syndactyly, and craniosynostosis with other somatic abnormalities. Acrocephalopolysyndactyly or Carpenter syndrome consists of craniosynostosis, short fingers, soft tissue syndactyly, preaxial polydactyly, congenital heart disease, hypogenitalism, obesity, and umbilical hernia. As many as three-fourths of the patients have some degree of intellectual impairment. The etiology of mental retardation in this syndrome has not been explored. A patient is reported with the features of Carpenter syndrome who has profound developmental delay and cerebral malformations demonstrated by magnetic resonance imaging and computed tomography. Because mental retardation is not an invariable feature of this syndrome or other craniosynostosis syndromes, neuroradiologic examination may help in predicting the intellectual outcome in these patients.

  20. Genetic Basis of Brain Malformations

    Science.gov (United States)

    Parrini, Elena; Conti, Valerio; Dobyns, William B.; Guerrini, Renzo

    2016-01-01

    Malformations of cortical development (MCD) represent a major cause of developmental disabilities, severe epilepsy, and reproductive disadvantage. Genes that have been associated to MCD are mainly involved in cell proliferation and specification, neuronal migration, and late cortical organization. Lissencephaly-pachygyria-severe band heterotopia are diffuse neuronal migration disorders causing severe global neurological impairment. Abnormalities of the LIS1, DCX, ARX, RELN, VLDLR, ACTB, ACTG1, TUBG1, KIF5C, KIF2A, and CDK5 genes have been associated with these malformations. More recent studies have also established a relationship between lissencephaly, with or without associated microcephaly, corpus callosum dysgenesis as well as cerebellar hypoplasia, and at times, a morphological pattern consistent with polymicrogyria with mutations of several genes (TUBA1A, TUBA8, TUBB, TUBB2B, TUBB3, and DYNC1H1), regulating the synthesis and function of microtubule and centrosome key components and hence defined as tubulinopathies. MCD only affecting subsets of neurons, such as mild subcortical band heterotopia and periventricular heterotopia, have been associated with abnormalities of the DCX, FLN1A, and ARFGEF2 genes and cause neurological and cognitive impairment that vary from severe to mild deficits. Polymicrogyria results from abnormal late cortical organization and is inconstantly associated with abnormal neuronal migration. Localized polymicrogyria has been associated with anatomo-specific deficits, including disorders of language and higher cognition. Polymicrogyria is genetically heterogeneous, and only in a small minority of patients, a definite genetic cause has been identified. Megalencephaly with normal cortex or polymicrogyria by MRI imaging, hemimegalencephaly and focal cortical dysplasia can all result from mutations in genes of the PI3K-AKT-mTOR pathway. Postzygotic mutations have been described for most MCD and can be limited to the dysplastic tissue in the

  1. Characterization of Live Birth with Congenital Malformations

    Directory of Open Access Journals (Sweden)

    Carlos Acosta Batista

    2015-06-01

    Full Text Available Background: the congenital malformations constitute the first cause of infantile death in developed countries, as well as the second cause of death in Cuba, in younger children of an elderly year. Objective: characterizing the live birth newborns with congenital malformations at Marianao municipality during the year 2011. Methods: descriptive, cross-section study of 30- live birth with congenital malformations at Marianao municipality in Havana, during the year 2011. Some of analyzed variables were: sex, affected system, congenital malformation, type of malformation, severity, birth weight, gestational age, prenatal diagnosis, family history of congenital malformation, maternal age, among others. Results: the masculine sex was the more affected, with 18 cases that represented the 60 %. The Polydactyl was the malformation further frequent, with 23.3 %, followed by the pre-aural appendix, with 10 %. The 20 % was born pre-term and only in the 10 % of the cases was obtained a positive result in the tests of prenatal diagnosis. Conclusions: the live birth with MC were characterized to be males with isolated MC and less severe, full term, normopeso, without family history of the aforementioned affection and with a negative prenatal diagnosis. The majority of mothers belonged to 20-35's age group years, they suffered from hypertension and during pregnancy, the principal diseases that they presented were the sepsis and anemia.

  2. Computed tomography of congenital brain malformations

    Energy Technology Data Exchange (ETDEWEB)

    Sarwar, M.

    1984-01-01

    This book is illustrated showing each condition. This book is designed to correlate the pathology of CNS malformations with their CT scan appearance, mainly on the axial images. The author has drawn upon his personal experience and the information gleaned from the literature dealing with the description of the CT scan findings of these malformations. The emphasis is on simplicity of description. Since a large degree of morphological variation exists in each entity, numerous illustrations (wherever applicable) are shown to depict those variations. When appropriate, deficiency of the CT scan in the evaluation of these CNS malformations also is indicated. A description of CNS embryology is included as well.

  3. Anterior commissure absence without callosal agenesis: a new brain malformation.

    Science.gov (United States)

    Mitchell, T N; Stevens, J M; Free, S L; Sander, J W; Shorvon, S D; Sisodiya, S M

    2002-04-23

    The authors report a novel human brain malformation characterized by the absence of the anterior commissure without callosal agenesis, but associated with gross unilateral panhemispheric malformation incorporating subependymal heterotopia, subcortical heterotopia, and gyral abnormalities including temporal malformation and polymicrogyria. In contrast, a normal anterior commissure was found in 125 control subjects and in 113 other subjects with a range of brain malformations.

  4. Presenting Symptoms of Chiari Type I Malformation

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2009-06-01

    Full Text Available Clinical and radiographic predictors of neurologic symptoms were investigated in a population-based retrospective study of 51 children identified with Chiari I malformation at the University of California, and Kaiser Department of Radiology, San Francisco.

  5. What Is an Arteriovenous Malformation (AVM)?

    Science.gov (United States)

    ... T. Quiz 5 Things to Know About Stroke What Is an Arteriovenous Malformation (AVM)? Updated:Nov 21, ... About AVMs Symptoms and Bleeding Diagnosis and Treatment What is a brain AVM? Normally, arteries carry blood ...

  6. Vascular Malformations of the Orofacial Region

    Directory of Open Access Journals (Sweden)

    Daya K Jangam

    2010-01-01

    Full Text Available Vascular malformations are the benign lesion of the blood vessels or vascular elements and are considered errors of vascular morphogenesis, displaying abnormal dilatations, and channels but no increased cell turnover. Vascular malformations are always present at birth and enlarge in proportion to the growth of the child- They do not involute and remain throughout the patient′s life. 1 These lesions occur with equal sex predilection and do not favor any races. Vascular lesions of the face are not very common Most of the oral and oropharyngeal lesions tend to occur in the tongue and the floor of the mouth. 2 In most cases, the diagnosis of vascular malformations is based on clinical evaluation Here a case report is presented of 16-year-old male patient with vascular malformation of the orofacial region. The clinical presentation, radiological finding are discussed with emphasis on recent advances for diagnosis of the same.

  7. [Central nervous system malformations: neurosurgery correlates].

    Science.gov (United States)

    Jiménez-León, Juan C; Betancourt-Fursow, Yaline M; Jiménez-Betancourt, Cristina S

    2013-09-06

    Congenital malformations of the central nervous system are related to alterations in neural tube formation, including most of the neurosurgical management entities, dysraphism and craniosynostosis; alterations of neuronal proliferation; megalencefaly and microcephaly; abnormal neuronal migration, lissencephaly, pachygyria, schizencephaly, agenesis of the corpus callosum, heterotopia and cortical dysplasia, spinal malformations and spinal dysraphism. We expose the classification of different central nervous system malformations that can be corrected by surgery in the shortest possible time and involving genesis mechanisms of these injuries getting better studied from neurogenic and neuroembryological fields, this involves connecting innovative knowledge areas where alteration mechanisms in dorsal induction (neural tube) and ventral induction (telencephalization) with the current way of correction, as well as the anomalies of cell proliferation and differentiation of neuronal migration and finally the complex malformations affecting the posterior fossa and current possibilities of correcting them.

  8. Human malformations induced by environmental noxae

    Energy Technology Data Exchange (ETDEWEB)

    Hecker, W.C.; Angerpointner, T.A.

    1980-01-01

    The paper reviews congenital malformations in humans and presents possible causes. 60% of all malformations are a result of environmental and other factors; i.e. not hereditary or caused by a disease of the mother. The teratogenic effects of ionizing radiation, drugs, alcohol, polyvinyl chloride and trichlorophenol are discussed as well as the effect of the mother's working in certain fields, e.g. clinical laboratories or printing offices; in the latter case the teratogenic noxae are still unknown. Efficient research requires centralized storage of all data on children born with malformations and on the mother's health situation during pregnancy, and the legislator is asked to do so while observing the law on data protection. Foundation of a German Institute of Teratology is recommended. In order to intensify research, it is suggested to set up groups or departments for research on malformations in some major paediatric hospitals.

  9. Vein of Galen Malformation: Outcome after Embolization

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2003-12-01

    Full Text Available The neurodevelopmental outcome after endovascular treatment of vein of Galen malformation (VOGM in 27 patients seen between 1983 and 2002 was assessed by chart review and parental questionnaires at the University of California, San Francisco.

  10. Inner ear malformations: a practical diagnostic approach.

    Science.gov (United States)

    Mazón, M; Pont, E; Montoya-Filardi, A; Carreres-Polo, J; Más-Estellés, F

    Pediatric sensorineural hearing loss is a major cause of disability; although inner ear malformations account for only 20-40% of all cases, recognition and characterization will be vital for the proper management of these patients. In this article relevant anatomy and development of inner ear are surveyed. The role of neuroimaging in pediatric sensorineural hearing loss and cochlear preimplantation study are assessed. The need for a universal system of classification of inner ear malformations with therapeutic and prognostic implications is highlighted. And finally, the radiological findings of each type of malformation are concisely described and depicted. Computed tomography and magnetic resonance imaging play a crucial role in the characterization of inner ear malformations and allow the assessment of the anatomical structures that enable the selection of appropriate treatment and surgical approach. Copyright © 2016 SERAM. Publicado por Elsevier España, S.L.U. All rights reserved.

  11. Gamma knife radiosurgery for cerebral arteriovenous malformations.

    Science.gov (United States)

    Kemeny, A A; Radatz, M W R; Rowe, J G; Walton, L; Hampshire, A

    2004-01-01

    Since its introduction, gamma knife radiosurgery has become an important treatment modality for cerebral arteriovenous malformations. This paper is a brief overview of the technique used, of the clinical results achieved and of the experience gained in Sheffield.

  12. Malformed frog survey Dahomey NWR - 2001

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — Report contains field data sheets assoicated with malformed frog survey on Dahomey NWR in 2001. Work was done in support of regional sampling on refuges for...

  13. Glomuvenous malformation: magnetic resonance imaging findings

    Energy Technology Data Exchange (ETDEWEB)

    Flors, Lucia; Norton, Patrick T.; Hagspiel, Klaus D. [University of Virginia Health System, Department of Radiology and Medical Imaging, Charlottesville, VA (United States)

    2014-07-05

    We report a case of a glomuvenous malformation involving the dorsal aspect of the right hand and distal forearm in an 11-year-old boy. He had a history of multiple vascular anomalies since birth and presented with increasing right hand pain. MRI played an important role in characterizing and determining the extent of the lesion. In particular, dynamic time-resolved contrast-enhanced MR angiography precisely defined its vascularity. The diagnosis was made histopathologically after partial resection of the lesion. Glomuvenous malformation is a rare developmental hamartoma that originates from the glomus body. Clinically they usually resemble a venous malformation but they are a different entity. In the appropriate clinical setting this rare condition must be included in the differential diagnosis of a vascular malformation, especially when subtle arterial enhancement, early venous shunting and progressive filling of dilated venous spaces are depicted on MRA. (orig.)

  14. Congenital pseudoarthrosis associated with venous malformation

    Energy Technology Data Exchange (ETDEWEB)

    Al-Hadidy, A.; Haroun, A.; Al-Ryalat, N. [Jordan University Hospital, Radiology Department, P.O. Box 340621, Amman (Jordan); Hamamy, H. [Endocrinology and Genetics, National Center for Diabetes, Amman (Jordan); Al-Hadidi, S. [Jordan University Hospital, Departments of Orthopedics, Amman (Jordan)

    2007-06-15

    Congenital pseudoarthrosis is a pathologic entity that may be isolated, or may be associated with neurofibromatosis. We report the case of a 3-year-old female with congenital pseudoarthrosis involving the right tibia and fibula. Magnetic resonance imaging (MRI) and complementary magnetic resonance angiogram (MRA) revealed a lobulated mass with vivid enhancement, which led to the diagnosis of venous malformation. This is the first report of congenital pseudoarthrosis caused by the presence of a vascular malformation. (orig.)

  15. Venous malformations: clinical diagnosis and treatment.

    Science.gov (United States)

    Behravesh, Sasan; Yakes, Wayne; Gupta, Nikhil; Naidu, Sailendra; Chong, Brian W; Khademhosseini, Ali; Oklu, Rahmi

    2016-12-01

    Venous malformation (VM) is the most common type of congenital vascular malformation (CVM). They are present at birth and are often symptomatic, causing morbidity and pain. VMs can be challenging to diagnose and are often confused with hemangioma in terminology as well as with imaging. An accurate clinical history and cross-sectional imaging are critical for diagnosis and for devising management. This manuscript will review imaging approaches to diagnosing VMs and current treatment strategies.

  16. Animal models for human craniofacial malformations.

    Science.gov (United States)

    Johnston, M C; Bronsky, P T

    1991-01-01

    Holoprosencephaly malformations, of which the fetal alcohol syndrome appears to be a mild form, can result from medial anterior neural plate deficiencies as demonstrated in an ethanol treated animal model. These malformations are associated with more medial positioning of the nasal placodes and resulting underdevelopment or absence of the medial nasal prominences (MNPs) and their derivatives. Malformations seen in the human retinoic acid syndrome (RAS) can be produced by administration of the drug 13-cis-retinoic acid in animals. Primary effects on neural crest cells account for most of these RAS malformations. Many of the malformations seen in the RAS are similar to those of hemifacial microsomia, suggesting similar neural crest involvement. Excessive cell death, apparently limited to trigeminal ganglion neuroblasts of placodal origin, follows 13-cis retinoic acid administration at the time of ganglion formation and leads to malformations virtually identical to those of the Treacher Collins syndrome (TCS). Secondary effects on neural crest cells in the area of the ganglion appear to be responsible for the TCS malformations. Malformations of the DiGeorge Syndrome are similar to those of the RAS and can be produced in mice by ethanol administration or by "knocking out" a homeobox gene (box 1.5). Human and animal studies indicate that cleft lips of multifactorial etiology may be generically susceptible because of small MNP)s or other MNP developmental alterations, such as those found in A/J mice, that make prominence contact more difficult. Experimental maternal hypoxia in mice indicates that cigarette smoking may increase the incidence of cleft lip by interfering with morphogenetic movements. Other human cleft lips may result from the action of a single major gene coding for TGF-alpha variants. A study with mouse palatal shelves in culture and other information suggest that a fusion problem may be involved.

  17. Terminal hemimyelocystocele associated with Chiari II malformation

    Directory of Open Access Journals (Sweden)

    Umamaheswara Reddy V.

    2014-06-01

    Full Text Available Terminal myelocystocele (TMC results from failure of embryonic CSF to drain outside the neural tube creating CSF reservoir within a dorsal meningocele. Association of Chiari II malformation with diastematomyelia and myelocystocele is extremely rare. Myelocystoceles do not have neural tissue so they have good prognosis after treatment, however when associated with hydromelia and Chiari malformation they present with neurological deficits. We present details of a 2 year old female who presented to us with this rare anomaly.

  18. Syringomyelia associated with Chiari malformation in children

    Energy Technology Data Exchange (ETDEWEB)

    Sakamoto, Hiroaki; Kitano, Shouhei; Nishikawa, Misao; Yasui, Toshihiro [Osaka City General Hospital (Japan); Fujitani, Ken; Hakuba, Akira; Nakanishi, Naruhiko

    1997-02-01

    Among 28 patients with myelomeningocele (MMC group), the myelomeningocele in all patients was repaired shortly after birth, and a shunt was implanted for the associated hydrocephalus in 18 patients. MRI of the group of 28 indicated 20 were afflicted with Chiari II malformation, and the remaining 8 by Chiari I malformation. Among 8 patients lacking myelomeningocele (non-MMC group), seven demonstrated a large syrinx at the cervical and cervico-thoracic level; only one had a syrinx extending from the cervical level down to the lumbar level. None of these patients had hydrocephalus. Surgical decompression to improve cerebrospinal fluid (CSF) flow at the major cistern improved neurological signs in 7 patients. MRI indicated 4 patients were afflicted with Chiari I malformation, and the remaining 4 with Chiari II malformation. In the MMC group, the initial development of the syrinx at the lumbar level may be the result of a combination of occlusion of the caudal end of the central canal brought about by repair of the myelomeningocele and CSF flow into the hydromyelic cavity via the patent proximal portion of the central canal. In the non-MMC group, the syringomyelia may be considered an early onset type of syringomyelia associated with adult type Chiari malformation because the location of the syrinx was quite similar to that found in adult type Chiari malformation, and decompressive surgery was quite effective. In the non-MMC group, turbulence of the CSF now at the major cistern caused by the herniated cerebellum plays an important role in the enlargement of the syringomyelia. To offer greater appropriate management of pediatric Chiari malformation accompanied by syringomyelia, the malformation should be classified not by degree of the herniated brain tissue but by its association with neural tube defect (myelomeningocele). (K.H.)

  19. Capillary malformation--arteriovenous malformation syndrome: review of the literature, proposed diagnostic criteria, and recommendations for management.

    Science.gov (United States)

    Orme, Charisse M; Boyden, Lynn M; Choate, Keith A; Antaya, Richard J; King, Brett A

    2013-01-01

    Capillary malformation-arteriovenous malformation syndrome is an autosomal dominant disorder caused by mutations in the RASA1 gene and characterized by multiple small, round to oval capillary malformations with or without arteriovenous malformations. Ateriovenous malformations occur in up to one-third of patients and may involve the brain and spine. Although making the diagnosis is straightforward in some patients, there are other patients for whom diagnostic criteria may be helpful in their evaluation. Here we review the literature regarding capillary malformation-arteriovenous malformation syndrome, propose diagnostic criteria, and discuss the care of patients with this condition.

  20. Ethanol sclerotherapy of peripheral venous malformations

    Energy Technology Data Exchange (ETDEWEB)

    Rimon, U. E-mail: rimonu@sheba.health.gov.il; Garniek, A.; Galili, Y.; Golan, G.; Bensaid, P.; Morag, B

    2004-12-01

    Background: venous malformations are congenital lesions that can cause pain, decreased range of movement, compression on adjacent structures, bleeding, consumptive coagulopathy and cosmetic deformity. Sclerotherapy alone or combined with surgical excision is the accepted treatment in symptomatic malformations after failed treatment attempts with tailored compression garments. Objectives: to report our experience with percutaneous sclerotherapy of peripheral venous malformations with ethanol 96%. Patients and methods: 41 sclerotherapy sessions were performed on 21 patients, aged 4-46 years, 15 females and 6 males. Fourteen patients were treated for painful extremity lesions, while five others with face and neck lesions and two with giant chest malformations had treatment for esthetic reasons. All patients had a pre-procedure magnetic resonance imaging (MRI) study. In all patients, 96% ethanol was used as the sclerosant by direct injection using general anesthesia. A minimum of 1-year clinical follow-up was performed. Follow-up imaging studies were performed if clinically indicated. Results: 17 patients showed complete or partial symptomatic improvement after one to nine therapeutic sessions. Four patients with lower extremity lesions continue to suffer from pain and they are considered as a treatment failure. Complications were encountered in five patients, including acute pulmonary hypertension with cardiovascular collapse, pulmonary embolus, skin ulcers (two) and skin blisters. All patients fully recovered. Conclusion: sclerotherapy with 96% ethanol for venous malformations was found to be effective for symptomatic improvement, but serious complications can occur.

  1. Neuraxis Cavernous Malformations: a Four Cases Report

    Directory of Open Access Journals (Sweden)

    Yandy Prieto Leyras

    2013-04-01

    Full Text Available Cavernous malformations are benign vascular tumors, with a raspberry-like morphology, commonly described as part of the group of the so called cryptic vascular malformations, which are rare neurological presentations. They are considered to be a controversial chapter in neuroscience due to the clinical-topographic variability of their presentation. Their management remains controversial. We present the cases of four patients with neuraxis cavernomas who are characterization from clinical and imaging standpoint, up to their final outcome. Early detection, understanding, and better management of the neuraxis cavernous malformations are the result of contemporary technological advances. The historical review on the subject shows the difference between the few cases that could be clinically diagnosed through conventional radiology and the largest number of lesions detected at autopsy or during surgery.

  2. Imaging of head and neck venous malformations

    Energy Technology Data Exchange (ETDEWEB)

    Flis, Christine M.; Connor, Stephen E. [King' s College Hospital, Neuroradiology Department, London (United Kingdom)

    2005-10-01

    Venous malformations (VMs) are non proliferative lesions that consist of dysplastic venous channels. The aim of imaging is to characterise the lesion and define its anatomic extent. We will describe the plain film, ultrasound (US) (including colour and duplex Doppler), computed tomography (CT), magnetic resonance imaging (MRI), conventional angiographic and direct phlebographic appearances of venous malformations. They will be illustrated at a number of head and neck locations, including orbit, oral cavity, superficial and deep facial space, supraglottic and intramuscular. An understanding of the classification of such vascular anomalies is required to define the correct therapeutic procedure to employ. Image-guided sclerotherapy alone or in combination with surgery is now the first line treatment option in many cases of head and neck venous malformations, so the radiologist is now an integral part of the multidisciplinary management team. (orig.)

  3. Chiari type I malformation in children.

    Science.gov (United States)

    Massimi, L; Novegno, F; di Rocco, C

    2011-01-01

    The diagnosis of Chiari type I malformation (CIM) is more and more frequent in clinical practice due to the wide diffusion of magnetic resonance imaging. In many cases, such a diagnosis is made incidentally in asymptomatic patients, as including children investigated for different reasons such as mental development delay or sequelae of brain injury. The large number of affected patients, the presence of asymptomatic subjects, the uncertainties surrounding the pathogenesis of the malformation, and the different options for its surgical treatment make the management of CIM particularly controversial.This paper reports on the state of the art and the recent achievements about CIM aiming at providing further information especially on the pathogenesis, the natural history, and the management of the malformation, which are the most controversial aspects. A historial review introduces and explains the current classification. Furthermore, the main clinical, radiological, and neurophysiological findings of CIM are described to complete the picture of this heterogeneous and complex disease.

  4. Papilloedema due to Chiari I malformation.

    Science.gov (United States)

    Zhang, Jason Chao; Bakir, Belal; Lee, Andrew; Yalamanchili, Sushma S

    2011-10-16

    The Chiari I malformation is a congenital abnormality characterised by downward displacement of the cerebellar tonsils through the foramen magnum into the cervical spine. It presents clinically most often in young adult women. Known ocular manifestations linked to Chiari I consist primarily of oculomotor paresis with cranial nerve VI palsy and convergence/divergence abnormalities. Papilloedema is a rare manifestation of Chiari I with a clinical presentation often similar to that of idiopathic intracranial hypertension. To highlight this unusual complication, the authors report a 64-year-old female who developed papilloedema as the only presenting neurological symptom resulting from a Chiari I malformation.

  5. Percutaneous Cryotherapy of Vascular Malformation: Initial Experience

    Energy Technology Data Exchange (ETDEWEB)

    Cornelis, F., E-mail: francoiscornelis@hotmail.com [Institut Bergonie, Department of Radiology (France); Neuville, A. [Institut Bergonie, Department of Pathology (France); Labreze, C. [Pellegrin Hospital, Department of Pediatric Dermatology (France); Kind, M. [Institut Bergonie, Department of Radiology (France); Bui, B. [Institut Bergonie, Department of Oncology (France); Midy, D. [Pellegrin Hospital, Department of Vascular Surgery (France); Palussiere, J. [Institut Bergonie, Department of Radiology (France); Grenier, N. [Pellegrin Hospital, Department of Radiology (France)

    2013-06-15

    The present report describes a case of percutaneous cryotherapy in a 36-year-old woman with a large and painful pectoral venous malformation. Cryoablation was performed in a single session for this 9-cm mass with 24 h hospitalisation. At 2- and 6-month follow-up, the pain had completely disappeared, and magnetic resonance imaging demonstrated a significant decrease in size. Percutaneous cryoablation shows promise as a feasible and apparently safe method for local control in patients with symptomatic venous vascular malformations.

  6. Pulmonary arteriovenous malformation treated by lobectomy.

    Science.gov (United States)

    Georghiou, Georgios P; Berman, Marius; Vidne, Bernardo A; Saute, Milton

    2003-08-01

    Pulmonary arteriovenous malformation (PAVM) may occur primarily or in association with hereditary hemorrhagic telangiectasia. We present a case of PAVM in the central lower lobe of the left lung of a 75-year-old woman, which was successfully treated by lobectomy. Contrast echocardiography is an excellent tool for evaluation of this uncommon lesion. Advances in interventional radiology have led to the introduction of obliterative techniques for the treatment of PAVM. However, in the presence of a large solitary malformation centrally located, as in our case, and in high-risk patients, surgery is still a safe and effective first option.

  7. Cochlear Implantation in Children with Cochlear Malformation.

    Science.gov (United States)

    Saikawa, Etsuko; Takano, Kenichi; Ogasawara, Noriko; Tsubomatsu, Chieko; Takahashi, Nozomi; Shirasaki, Hideaki; Himi, Tetsuo

    2016-01-01

    Cochlear implantation (CI) has proven to be an effective treatment for severe bilateral sensorineural hearing loss (SNHL). Inner ear malformation is a rare anomaly and occurs in approximately 20% of cases with congenital SNHL. In cases with cochlear malformation, CI can be successfully performed in nearly all patients, the exceptions being those with complete labyrinthine and cochlear aplasia. It is important to evaluate the severity of inner ear deformity and other associated anomalies during the preimplantation radiological assessment in order to identify any complication that may potentially occur during the surgery and subsequent patient management.

  8. Effect of Pingyangmycin on human venous malformation endothelial cells

    Institute of Scientific and Technical Information of China (English)

    Yi Fang Zhao; Zhi Jun Sun; Yu Lin Jia; Jun Jia; Ya Meng Si; Ji Hong Zhao; Wen Feng Zhang

    2008-01-01

    @@ Purpose: Venous malformations are common vascular anomalies with a propensity of the head and neck. Intralesional injection of Pingyangmycin (PYM, bleomycin A5 hydrochloride) is a widely used sclerotherapy method for the treatment of venous malformation.

  9. A STUDY OF POSTERIOR FOSSA MALFORMATIONS: MR IMAGING

    Directory of Open Access Journals (Sweden)

    Ravi

    2015-02-01

    Full Text Available AIMS AND OBJECTIVES: The aim of our study is to describe the imaging findings of various posterior fossa malformations and to evaluate the supratentorial abnormalities associated with posterior fossa malformations. MATERIALS AND METHODS: MR images of 30 patients wi th posterior fossa malformations detected in the department of Radiodiagnosis, BMCRI over a period of two years, from December 2012 to December 2014 were evaluated retrospectively. The various posterior fossa malformations were evaluated. Associated suprat entorial abnormalities were noted. RESULTS: 30 patients with posterior fossa malformations were included in the study. The age group of patients ranged from 1year to 53years. There were 18 males and 12 females. The various posterior fossa malformations det ected were Dandy Walker malformation (1 case, Dandy Walker variant (2 cases, mega cisterna magna (8 cases, arachnoid cysts (5 cases, Chiari 1 malformation (5 cases, Chairi 2 malformation (2 cases, Joubert malformation (1 case, lipoma (2 cases, verm ian and/or cerebellar hypoplasia without posterior fossa CSF collection or cyst (4 cases. Associated supratentorial abnormalities were seen in 8 cases . CONCLUSION: MRI is the imaging modality of choice in the evaluation of posterior fossa malformations. I t is very important to know the imaging findings of these malformations and to have knowledge about the various supratentorial and spinal abnormalities associated with them so as to provide an accurate diagnosis which is very essential for predicting the p rognosis and planning further management.

  10. Fetal MRI clues to diagnose cloacal malformations

    Energy Technology Data Exchange (ETDEWEB)

    Calvo-Garcia, Maria A.; Kline-Fath, Beth M.; Patel, Manish N.; Kraus, Steven [Cincinnati Children' s Hospital Medical Center, Department of Radiology, MLC 5031, Cincinnati, OH (United States); Levitt, Marc A.; Pena, Alberto [Cincinnati Children' s Hospital Medical Center, Colorectal Center for Children, Pediatric Surgery, Cincinnati, OH (United States); Lim, Foong-Yen; Crombleholme, Timothy M. [Cincinnati Children' s Hospital Medical Center, Fetal Care Center of Cincinnati, Pediatric Surgery, Cincinnati, OH (United States); Linam, Leann E. [Arkansas Children' s Hospital, Department of Radiology, Little Rock, AR (United States)

    2011-09-15

    Prenatal US detection of cloacal malformations is challenging and rarely confirms this diagnosis. To define the prenatal MRI findings in cloacal malformations. We performed a retrospective study of patients with cloacal malformations who had pre- and post-natal assessment at our institution. Fetal MRI was obtained in six singleton pregnancies between 26 and 32 weeks of gestation. Imaging analysis was focused on the distal bowel, the urinary system and the genital tract and compared with postnatal clinical, radiological and surgical diagnoses. The distal bowel was dilated and did not extend below the bladder in five fetuses. They had a long common cloacal channel (3.5-6 cm) and a rectum located over the bladder base. Only one fetus with a posterior cloacal variant had a normal rectum. Three fetuses had increased T2 signal in the bowel and two increased T1/decreased T2 signal bladder content. All had renal anomalies, four had abnormal bladders and two had hydrocolpos. Assessment of the anorectal signal and pelvic anatomy during the third trimester helps to detect cloacal malformations in the fetus. The specificity for this diagnosis was highly increased when bowel fluid or bladder meconium content was identified. (orig.)

  11. Percutaneous Treatment of Peripheral Vascular Malformations

    NARCIS (Netherlands)

    E. van der Linden (Edwin)

    2011-01-01

    textabstractVascular malformations arise from errors in the morphological processes that shape the embryonic vascular system during fetal development. These developmental errors result in abnormal clusters of blood vessels. Although these lesions are present at birth, they might not become visible u

  12. Congenital spinal malformations; Kongenitale spinale Malformationen

    Energy Technology Data Exchange (ETDEWEB)

    Ertl-Wagner, B.B.; Reiser, M.F. [Klinikum Grosshadern, Ludwig-Maximilians-Univ. Muenchen (Germany). Inst. fuer Klinische Radiologie

    2001-12-01

    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.) [German] Kongenitale spinale Malformationen stellen eine komplexe Gruppe an Stoerungen dar, deren Genese sich am einfachsten aus der Embryologie heraus erklaeren laesst. Bei der klinisch-radiologischen Begutachtung ist zunaechst ihre korrekte Klassifikation im Rahmen der Erstdiagnose wichtig. Im weiteren Verlauf ist es jedoch zudem entscheidend, moegliche Komplikationen wie beispielsweise eine Hydromyelie oder ein Wiederanheften des Myelons nach Operation einer Spina bifida aperta zu erkennen. Zudem sollte bei der Diagnosestellung einer kongenitalen spinalen Malformation immer auch auf assoziierte Fehlbildungen, wie z.B. die Diastematomyelie oder das intraspinale Lipom bei der Spina bifida aperta, sowie auf eine moegliche syndromale Einordnung wie beispielsweise beim OEIS-oder VACTERL-Syndrom geachtet werden. (orig.)

  13. Idiopathic hepatic arterial malformation: a case report

    Institute of Scientific and Technical Information of China (English)

    郑蔚巍; 周康荣; 王佩芬; 陈祖望

    2003-01-01

    @@ Hepatic arterial malformation is a rare disorder which either origi nates idiopathically or may be associated with hereditary hemorrhagic telangiect asia (also known as Osler-Weber-Rendu disease). Although previous reports presented only descriptions of sonographic and angiographic findings,1-6 we present a case of splenic infarct caused by this disorder with CT and CTA findi ngs.

  14. Prenatal screening for congenital malformations: diagnosis and ...

    African Journals Online (AJOL)

    care of the pregnancy in terms of antenatal care, and referral for birth as ... photographed and only represent a proportion of all the malformed ... KEY WORDS: foetal malformafion, newborn deaths, prenatal care, pregnancy terminafion. Figure 1. Case 1 ... multiple methods, including ultrasound, are combined to make a ...

  15. Ketogenic Diet for Epilepsy and Focal Malformation

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2008-09-01

    Full Text Available The efficacy and long-term treatment outcome of a classic ketogenic diet (KD addon treatment (4:1 lipid/nonlipid ratio, without initial fasting and fluid restriction were evaluated retrospectively in 47 children with intractable epilepsy and focal malformation of cortical development, in a study at Severance Children’s and Sanggye Park Hospitals, Seoul, Korea.

  16. [A woman with a rare vascular malformation

    NARCIS (Netherlands)

    Koning, G.G.; Vries, M. de

    2015-01-01

    A 30-year-old woman with trisomy 8 syndrome and coagulopathy was diagnosed with a malformation of the vena cava superior. This is a rare anatomical variation, which originates from a non-development of Marshall's ligament during the 8th week of gestation (prevalence: 0.3%).

  17. Congenital Malformations in River Buffalo (Bubalus bubalis

    Directory of Open Access Journals (Sweden)

    Sara Albarella

    2017-02-01

    Full Text Available The world buffalo population is about 168 million, and it is still growing, in India, China, Brazil, and Italy. In these countries, buffalo genetic breeding programs have been performed for many decades. The occurrence of congenital malformations has caused a slowing of the genetic progress and economic loss for the breeders, due to the death of animals, or damage to their reproductive ability or failing of milk production. Moreover, they cause animal welfare reduction because they can imply foetal dystocia and because the affected animals have a reduced fitness with little chances of survival. This review depicts, in the river buffalo (Bubalus bubalis world population, the present status of the congenital malformations, due to genetic causes, to identify their frequency and distribution in order to develop genetic breeding plans able to improve the productive and reproductive performance, and avoid the spreading of detrimental gene variants. Congenital malformations most frequently reported in literature or signaled by breeders to the Department of Veterinary Medicine and Animal Production of the University Federico II (Naples, Italy in river buffalo are: musculoskeletal defects (transverse hemimelia, arthrogryposis, umbilical hernia and disorders of sexual development. In conclusion this review put in evidence that river buffalo have a great variety of malformations due to genetic causes, and TH and omphalocele are the most frequent and that several cases are still not reported, leading to an underestimation of the real weight of genetic diseases in this species.

  18. New concepts on posterior fossa malformations

    Energy Technology Data Exchange (ETDEWEB)

    Jaspan, Tim [Imaging Centre, University Hospital, Nottingham (United Kingdom)

    2008-06-15

    A full description of the embryology of the posterior fossa (PF) is beyond the scope of this review; several recent publications are recommended. Specific aspects of the processes involved are, however, reviewed as a background to malformations that involve defects or errors occurring at critical stages during the embryogenesis of the PF structures. (orig.)

  19. MR findings of congenital anorectal malformation

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Yoo Kyung; Kim, Hyae Young; Kwag, Hyon Joo; Chung, Eun Chul; Lee, Jung Sik; Suh, Jeong Soo [Ewha Womens University, medical College, Seoul (Korea, Republic of)

    1995-05-15

    To assess the usefulness of MRI in preoperative diagnosis of congenital anorectal malformation. MR findings of 11 cases with surgically proved anorectal malformations were retrospectively reviewed and compared with operative findings, according to the level of atresia, the development of sphincter muscle, fistula and associated anomalies of other organs. Four of 11 cases were low type of anorectal atresia, 3 cases were intermediate type, and 3 cases were high type. There was one case of Currarino triad with low type of anorectal stenosis. MRI demonstrated the levels of atresia correctly in all cases and revealed fistulas in all high type of anomalies. Degrees of the development of the sphincter muscles were good in all cases of low types and fair in a case of intermediate type and an anorectal stenosis, whereas the development was poor in 2 cases of intermediate type and all 4 cases of high type. The associated anomalies in anorectal malformation were renal agenesis, congenital hip dysplasia and sacral defect with presacral teratoma in Currarino triad. MRI was a simple and useful study to confirm the level of atresia, fistula and associated anomalies in the diagnosis of the congenital anorectal malformation.

  20. Lymphatic malformations: a proposed management algorithm.

    LENUS (Irish Health Repository)

    Oosthuizen, J C

    2012-02-01

    OBJECTIVE: The aim of this study was to develop a management algorithm for cervicofacial lymphatic malformations, based on the authors\\' experience in managing these lesions as well as current literature on the subject. STUDY DESIGN AND METHODS: A retrospective medical record review of all the patients treated for lymphatic malformations at our institution during a 10-year period (1998-2008) was performed. DATA COLLECTED: age at diagnosis, location and type of lesion, radiologic investigation performed, presenting symptoms, treatment modality used, complications and results achieved. RESULTS: 14 patients were identified. Eight (57%) male and six (43%) female. There was an equal distribution between the left and right sides. The majority (71%) of cases were diagnosed within the first year of life. The majority of lesions were located in the suprahyoid region. The predominant reason for referral was an asymptomatic mass in 7 cases (50%) followed by airway compromise (36%) and dysphagia (14%). Management options employed included: observation, OK-432 injection, surgical excision and laser therapy. In 5 cases (36%) a combination of these were used. CONCLUSION: Historically surgical excision has been the management option of choice for lymphatic malformations. However due to the morbidity and high complication rate associated this is increasingly being questioned. Recent advances in sclerotherapy e.g. OK-432 injection have also shown significant promise. Based on experience in managing these lesions as well as current literature the authors of this paper have developed an algorithm for the management of cervicofacial lymphatic malformations.

  1. Congenital Malformations in River Buffalo (Bubalus bubalis)

    Science.gov (United States)

    Albarella, Sara; Ciotola, Francesca; D’Anza, Emanuele; Coletta, Angelo; Zicarelli, Luigi; Peretti, Vincenzo

    2017-01-01

    Simple Summary Congenital malformations (due to genetic causes) represent a hidden danger for animal production, above all when genetic selection is undertaken for production improvements. These malformations are responsible for economic losses either because they reduce the productivity of the farm, or because their spread in the population would decrease the total productivity of that species/breed. River buffalo is a species of increasing interest all over the world for its production abilities, as proved by the buffalo genome project and the genetic selection plans that are currently performed in different countries. The aim of this review is to provide a general view of different models of congenital malformations in buffalo and their world distribution. This would be useful either for those who performed buffalo genetic selection or for researchers in genetic diseases, which would be an advantage to their studies with respect to the knowledge of gene mutations and interactions in this species. Abstract The world buffalo population is about 168 million, and it is still growing, in India, China, Brazil, and Italy. In these countries, buffalo genetic breeding programs have been performed for many decades. The occurrence of congenital malformations has caused a slowing of the genetic progress and economic loss for the breeders, due to the death of animals, or damage to their reproductive ability or failing of milk production. Moreover, they cause animal welfare reduction because they can imply foetal dystocia and because the affected animals have a reduced fitness with little chances of survival. This review depicts, in the river buffalo (Bubalus bubalis) world population, the present status of the congenital malformations, due to genetic causes, to identify their frequency and distribution in order to develop genetic breeding plans able to improve the productive and reproductive performance, and avoid the spreading of detrimental gene variants. Congenital

  2. Spectrum of prenatally detected central nervous system malformations: Neural tube defects continue to be the leading foetal malformation

    Directory of Open Access Journals (Sweden)

    Anjurani Siddesh

    2017-01-01

    Interpretation & conclusions: Amongst prenatally detected malformations, CNS malformations were common. NTD, which largely is a preventable anomaly, continued to be the most common group. Moreover, 60 per cent of malformations were diagnosed after 20 weeks, posing legal issues. Chromosomal analysis and foetal autopsy are essential for genetic counselling based on aetiological diagnosis.

  3. Arteriovenous Malformation Detected by Small Bowel Endoscopy

    Directory of Open Access Journals (Sweden)

    Takaaki Fujii

    2014-10-01

    Full Text Available Gastrointestinal bleeding that originates in the small intestine is often difficult to diagnose. When successful diagnosis reveals a lesion that can be localized preoperatively, the laparoscopic approach is an appropriate and beneficial treatment modality for small bowel resection. A 69-year-old man presented with a 6-month history of gastrointestinal bleeding and symptomatic transfusion-dependent anemia. Upper and lower endoscopy were normal. Double-balloon endoscopy established the source of the bleeding as a 0.5-cm polypoid mass appearing as a submucosal tumor with redness and pulsation in the lower ileum, suggesting a vascular lesion. Laparoscopic small bowel resection was successful in removing the mass in the ileum. Histological evaluation of the mass revealed an arteriovenous malformation. Preoperative small bowel endoscopy can be useful for diagnosing the cause and localization of arteriovenous malformation in the small intestine.

  4. Combined spinal intramedullary arteriovenous malformation and lipomyelomeningocele

    Energy Technology Data Exchange (ETDEWEB)

    Weon, Y.C.; Roh, H.G.; Byun, H.S. [Samsung Medical Center, Sungkyunkwan University School of Medicine, Department of Radiology, Seoul (Korea); Chung, J.I. [Medimoa Hospital, Department of Radiology, Seoul (Korea); Eoh, W. [Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul (Korea)

    2005-10-01

    Combined spinal arteriovenous malformation and lipomyelomeningocele are extremely rare. We present a rare combined case of a lipomyelomeningocele with an intramedullary arteriovenous malformation (AVM) occurred at the L3-L4 level in a 30-year-old man who suffered from low back pain radiating to the lower extremities, dysuria, and frequency for 5 years. The MR studies showed an intradural mass with high-signal intensity on both T1-weighted and T2-weighted images, intermingled with multiple signal-void structures. The mass extended extradurally toward a subcutaneously forming fatty mass on the patient's back. Spinal angiography showed an AVM supplied by the radiculopial branches of the lumbar arteries and drained by tortuous, dilated, perimedullary veins. Endovascular embolization and surgical resection were performed. (orig.)

  5. Clinical Outcome Measures in Chiari I Malformation.

    Science.gov (United States)

    Yarbrough, Chester K; Greenberg, Jacob K; Park, Tae Sung

    2015-10-01

    Chiari malformation type 1 (CM-I) is a common and often debilitating neurologic disease. Reliable evaluation of treatments has been hampered by inconsistent use of clinical outcome measures. A variety of outcome measurement tools are available, although few have been validated in CM-I. The recent development of the Chicago Chiari Outcome Scale and the Chiari Symptom Profile provides CM-I-specific instruments to measure outcomes in adults and children, although validation and refinement may be necessary.

  6. Diagnosis and evaluation of intracranial arteriovenous malformations

    OpenAIRE

    Andrew Conger; Charles Kulwin; Lawton, Michael T; Cohen-Gadol, Aaron A.

    2015-01-01

    Background: Ideal management of intracranial arteriovenous malformations (AVMs) remains poorly defined. Decisions regarding management of AVMs are based on the expected natural history of the lesion and risk prediction for peritreatment morbidity. Microsurgical resection, stereotactic radiosurgery, and endovascular embolization alone or in combination are all viable treatment options, each with different risks. The authors attempt to clarify the existing literature′s understanding of the natu...

  7. Vascular malformations of the mandible (intraosseous haemangiomas)

    Energy Technology Data Exchange (ETDEWEB)

    Guibert-Tranier, F.; Piton, J.; Caille, J.M.; Riche, M.C.; Merland, J.J.

    1982-11-01

    Haemangiomas of the mandible are relatively rare arteriovenous malformations: 85 cases have been described since 1849. The severe risk of bleeding during tooth extraction or biopsy led us to describe the radiological and angiographic features of this condition. The afferent vessles are the inferior dental, the lingual and the facial arteries. Preoperative embolization reduces the risk of bleeding at operation. Surgical treatment must assure the complete removal of the lesion. Radiotherapy and vascular ligatures are useless and dangerous.

  8. Solitary vascular malformation of the clitoris.

    Science.gov (United States)

    Haritharan, T; Islah, M; Zulfiqar, A; Thambi Dorai, C R

    2006-06-01

    Isolated involvement of the clitoris by vascular malformation (VM) is very rare. Clinically, the lesion simulates female pseudohermaphroditism. A five-year-old girl presented with clitoromegaly and a clinical diagnosis of solitary VM of the clitoris was made. Magnetic resonance imaging showed characteristic features and confirmed the diagnosis and the extent of the VM. This is the first reported case of isolated involvement of the clitoris by VM to be diagnosed preoperatively.

  9. Gamma Knife treatment for cerebral arteriovenous malformations.

    Science.gov (United States)

    Kemeny, Andras A; Radatz, Matthias W R; Rowe, Jeremy G; Walton, Lee; Vaughan, Paul

    2007-01-01

    One of the earliest indications for Gamma Knife treatment, radiosurgery for cerebral arteriovenous malformations, has stood the test of time. While initially only the ideal cases (small, compact nidus in a non-eloquent site) were chosen, increasingly larger, more complex AVMs were treated. Combination treatment with embolisation and surgery enables most lesions to be treated with success and remarkably low complication rate. This paper is a brief overview of the experience gained in Sheffield.

  10. Radiological features of childhood giant cavernous malformations

    Energy Technology Data Exchange (ETDEWEB)

    Ozgen, Burce; Senocak, Efsun; Oguz, Kader K. [Hacettepe University, Department of Radiology, Faculty of Medicine, Ankara (Turkey); Soylemezoglu, Figen [Hacettepe University, Department of Pathology, School of Medicine, Ankara (Turkey); Akalan, Nejat [Hacettepe University, Department of Neurosurgery, School of Medicine, Ankara (Turkey)

    2011-04-15

    Giant cavernous malformations (GCM) are very large, low-flow vascular malformations, which usually have atypical imaging features and are commonly misdiagnosed preoperatively as neoplasms or vascular malformations. These lesions have mostly been reported in children. As cavernomas show different features in children compared to adults, we evaluated the imaging features of pediatric GCMs in order to help in the preoperative diagnosis of these malformations. Brain MR studies of nine children (mean age of 4 years; 8 months-9 years) with biopsy-proven GCM were retrospectively evaluated. We defined GCMs as cavernomas of {>=}4 cm. Lesions were evaluated regarding their size, location, signal characteristics, general appearance (uni/multilocular) as well as regarding the presence of mass effect, edema, and fluid-fluid levels and were classified according to the Mottolese classification of pediatric cavernomas. Lesion locations were parietal (n = 5), frontal (n = 2), temporal, and intraventricular. Seven lesions were in the periventricular region (with five in the periatrial region). Six patients had T1 hyperintense multilobulated lesions with ''bubbles of blood'' appearance and three patients had heterogeneous lesions with reticular core. All lesions had mass effect, edema (marked in four cases), and peripheral hemosiderin rim. Fluid-fluid levels were also common (n = 7). Most of our lesions (six of nine) were classified as type IIIA, two as type IIIC, and one as type IA. In children, a GCM should be considered in case of very large hemorrhagic intra-axial mass with ''bubbles of blood'' multicystic appearance, surrounding hemosiderin ring, fluid-fluid levels, and accompanying edema-mass effect, especially in the periatrial location. (orig.)

  11. Giant Arteriovenous Malformation of the Neck

    Directory of Open Access Journals (Sweden)

    P. A. Dieng

    2015-01-01

    Full Text Available Arteriovenous malformations (AVM have a wide range of clinical presentations. Operative bleeding is one of the most hazardous complications in the surgical management of high-flow vascular malformations. In the cervical region, the presence of vital vascular structures, such as the carotid artery and jugular vein, may increase this risk. This is a case of massive arteriovenous malformation deforming the neck and the face aspect of this aged lady and growing for several years. A giant mass of the left neck occupied the carotid region and the subclavian region. The AVM was developed between the carotid arteries, jugular veins, and vertebral and subclavian vessels, with arterial and venous flux. The patient underwent surgery twice for the cure of that AVM. The first step was the ligation of the external carotid. Seven days later, the excision of the mass was done. In postoperative period the patient presented a peripheral facial paralysis which completely decreased within 10 days. The first ligation of the external carotid reduces significantly the blood flow into the AVM. It permitted secondarily the complete ablation of the AVM without major bleeding even though multiple ligations were done.

  12. Congenital cystic lung malformations; Konnatale zystische Lungenfehlbildungen

    Energy Technology Data Exchange (ETDEWEB)

    Stoever, B.; Scheer, I.; Bassir, C. [Klinik fuer Strahlenheilkunde, Berlin (Germany). Abt. Paediatrische Radiologie, Charite; Mau, H. [Campus Virchow-Klinikum, Klinik fuer Kinderchirurgie, Berlin (Germany); Chaoui, R. [Campus Mitte, Klinik fuer Geburtsmedizin, Berlin (Germany); Henrich, W. [Campus Virchow-Klinikum, Klinik fuer Geburtsmedizin, Berlin (Germany); Schwabe, M. [Campus Mitte, Inst. fuer Pathologie, Berlin (Germany); Wauer, R. [Campus Mitte, Klinik fuer Neonatologie, Berlin (Germany)

    2006-04-15

    Purpose: The aim of the study concerning congenital cystic lung malformations was to evaluate prenatal diagnoses postnatally to determine prognostic factors as well as to define optimized perinatal management. Materials and Methods: The study is based on 45 prenatal ultrasound examinations depicting fetal cystic lung lesions. 32 of the mothers had follow-up examinations. 5 pregnancies were terminated due to CCAM and additional malformations. Complete regression of the lesions was seen prenatally in 8 cases and postnatally in 5 children. Results: Surgical intervention due to respiratory insufficiency was necessary in 4 neonates. According to the imaging results, CCAM was present in 4 cases and sequestration in 7 patients. No correlation between the imaging findings and the surgical results was found in 3 children: One child suffered from rhadomyoid dysplasia, and in the case of the second child, a left-sided hernia of the diaphragm and additional sequestration were detected. The third child showed AV malformation. The cystic lesions of the 14 children operated upon were proven histologically. The degree of accuracy in the present study was high. Conclusion: Precise perinatal management is warranted in order to determine according to the clinical relevance surgical intervention and to prevent complications after the first year of life. This is performed during the neonatal period for respiratory insufficient neonates and within the first year of life for clinically stable children. (orig.)

  13. Malformations of cortical development and neocortical focus.

    Science.gov (United States)

    Luhmann, Heiko J; Kilb, Werner; Clusmann, Hans

    2014-01-01

    Developmental neocortical malformations resulting from abnormal neurogenesis, disturbances in programmed cell death, or neuronal migration disorders may cause a long-term hyperexcitability. Early generated Cajal-Retzius and subplate neurons play important roles in transient cortical circuits, and structural/functional disorders in early cortical development may induce persistent network disturbances and epileptic disorders. In particular, depolarizing GABAergic responses are important for the regulation of neurodevelopmental events, like neurogenesis or migration, while pathophysiological alterations in chloride homeostasis may cause epileptic activity. Although modern imaging techniques may provide an estimate of the structural lesion, the site and extent of the cortical malformation may not correlate with the epileptogenic zone. The neocortical focus may be surrounded by widespread molecular, structural, and functional disturbances, which are difficult to recognize with imaging technologies. However, modern imaging and electrophysiological techniques enable focused hypotheses of the neocortical epileptogenic zone, thus allowing more specific epilepsy surgery. Focal cortical malformation can be successfully removed with minimal rim, close to or even within eloquent cortex with a promising risk-benefit ratio.

  14. Capillary malformation-arteriovenous malformation: a clinical review of 45 patients.

    Science.gov (United States)

    Larralde, Margarita; Abad, María Eugenia; Luna, Paula Carolina; Hoffner, Mariana Viktoria

    2014-04-01

    Capillary malformation-arteriovenous malformation (CM-AVM) is a recently described autosomal dominant disorder that results from mutations in RASA1. It has been initially described as multiple CMs affecting several members of the same family, associated with fast-flow malformations in at least one family member. To report and analyze clinical data on 45 patients with CM-AVM assessed at the Department of Pediatric Dermatology, Ramos Mejía Hospital (Buenos Aires, Argentina). Retrospective clinical review of all the patients clinically diagnosed as having CM-AVM over a period of eight years. Forty-five patients were recorded (24 females and 21 males). The age ranged from one month to 44 years. In 36 patients, the stains were congenital; progressive acquired lesions were observed in 39. Family history was positive in 32 subjects. Well defined, round to oval, pink-purple or reddish-brown macules were found in all the patients; pinpoint red lesions with a pale halo were found in nine cases. The macules were warmer than normal skin in 15 cases and surrounded by a white halo in 26 cases. Three subjects presented associated overgrowth, lymphatic malformation was present in one case, retinal vascular lesion in one patient, and isolated port wine stain in two cases. Three patients also had infantile hemangioma. We had no cases of fast-flow vascular malformation or combined vascular syndromes. CM-AVM is a heterogeneous disorder with phenotypic variability, from fast-flow malformation, limb enlargement, or Parkes Weber syndrome to multiple CMs without internal involvement. © 2013 The International Society of Dermatology.

  15. [Diagnosis of fetal malformations with ultrasound--state of development].

    Science.gov (United States)

    Fendel, M; Fendel, H

    1983-01-01

    Ultrasonography is of great importance for the prenatal diagnosis of fetal malformations and abnormalities. An early diagnosis in the second trimester is of great interest for an intrauterine or an extrauterine therapy planning (the choice of the time and mode of delivery). Defects of the neural tube including hydrocephalus, malformations of the extremities, the gastrointestinal tract, omphaloceles, the urogenital and cardiac system are described. Four cases of fetal malformations are presented: fetal myelomeningocele, hydrocephalus, bilateral hydronephrosis and lymphangioma with fetal ascites.

  16. Otosclerosis associated with type B-1 inner ear malformation

    OpenAIRE

    De Stefano, A.; DISPENZA, F.; Aggarwal, N.; Russo, A.

    2010-01-01

    Malformations of bony inner ear are rare anomalies occurring in approximately 20% of patients with congenital sensorineural hearing loss. Conductive hearing loss is usually associated with abnormalities of the external and middle ear. Recent reports of patients with lateral semicircular canal malformations indicate inner ear malformations to be associated with sensorineural or conductive hearing loss. Differential diagnosis of conductive hearing loss should include otosclerosis, isolated ossi...

  17. "COCHLEAR IMPLANTATION IN PATIENTS WITH INNER EAR MALFORMATIONS"

    OpenAIRE

    P. Borghei S. Abdi; M. Motesaddi Zari; Khalessi MH

    2004-01-01

    Performing cochlear implantation in patients with inner ear malformation has always been a matter of dispute. This study was designed to analyze the operative findings,complications, and postoperative performance of patients with inner ear anomalies who underwent cochlear implantation. Six patients with inner ear malformations underwent implantation in our academic tertiary referral center from 1997 to 2002. The average follow-up period was 27 months. Malformations included one incomplete par...

  18. Anaesthetic management of a child with massive extracranial arteriovenous malformation

    Directory of Open Access Journals (Sweden)

    Faisal Shamim

    2012-01-01

    Full Text Available Vascular tumors affect the head and neck commonly but arteriovenous malformations are rare. Vascular malformations are often present at birth and grow with the patient, usually only becoming significant later in childhood. Embolization has been the mainstay of treatment in massive and complex arteriovenous malformations. We present a case of massive extracranial arteriovenous malformation in a 7-year-old boy causing significant workload on right heart and respiratory distress. The management of angioembolization under general anaesthesia and anaesthetic concerns are presented.

  19. Notch receptor expression in human brain arteriovenous malformations.

    Science.gov (United States)

    Hill-Felberg, Sandra; Wu, Hope Hueizhi; Toms, Steven A; Dehdashti, Amir R

    2015-08-01

    The roles of the Notch pathway proteins in normal adult vascular physiology and the pathogenesis of brain arteriovenous malformations are not well-understood. Notch 1 and 4 have been detected in human and mutant mice vascular malformations respectively. Although mutations in the human Notch 3 gene caused a genetic form of vascular stroke and dementia, its role in arteriovenous malformations development has been unknown. In this study, we performed immunohistochemistry screening on tissue microarrays containing eight surgically resected human brain arteriovenous malformations and 10 control surgical epilepsy samples. The tissue microarrays were evaluated for Notch 1-4 expression. We have found that compared to normal brain vascular tissue Notch-3 was dramatically increased in brain arteriovenous malformations. Similarly, Notch 4 labelling was also increased in vascular malformations and was confirmed by western blot analysis. Notch 2 was not detectable in any of the human vessels analysed. Using both immunohistochemistry on microarrays and western blot analysis, we have found that Notch-1 expression was detectable in control vessels, and discovered a significant decrease of Notch 1 expression in vascular malformations. We have demonstrated that Notch 3 and 4, and not Notch 1, were highly increased in human arteriovenous malformations. Our findings suggested that Notch 4, and more importantly, Notch 3, may play a role in the development and pathobiology of human arteriovenous malformations.

  20. Dandy-Walker Malformation Presenting with Psychological Manifestations

    Directory of Open Access Journals (Sweden)

    Yasodha Maheshi Rohanachandra

    2016-01-01

    Full Text Available Dandy-Walker malformation, which is a congenital malformation of the cerebellum, is documented in literature to be associated with psychotic symptoms, obsessive compulsive symptoms, mood symptoms, hyperactivity, and impulsive behavior. The pathogenesis of psychiatric symptoms in Dandy-Walker malformation is thought to be due to disruption of the corticocerebellar tracts, resulting in what is known as cerebellar cognitive affective syndrome. We present a case of Dandy-Walker malformation presenting with psychiatric symptoms. This case highlights the necessity to be aware of psychiatric manifestations of cerebellar disease as it has an impact on the diagnosis and treatment.

  1. Malformations of the tooth root in humans

    Directory of Open Access Journals (Sweden)

    Hans Ulrich eLuder

    2015-10-01

    Full Text Available The most common root malformations in humans arise from either developmental disorders of the root alone or disorders of radicular development as part of a general tooth dysplasia. The aim of this review is to relate the characteristics of these root malformations to potentially disrupted processes involved in radicular morphogenesis. Radicular morphogenesis proceeds under the control of Hertwig's epithelial root sheath (HERS which determines the number, length, and shape of the root, induces the formation of radicular dentin, and participates in the development of root cementum. Formation of HERS at the transition from crown to root development appears to be very insensitive to adverse effects, with the result that rootless teeth are extremely rare. In contrast, shortened roots as a consequence of impaired or prematurely halted apical growth of HERS constitute the most prevalent radicular dysplasia which occurs due to trauma and unknown reasons as well as in association with dentin disorders. While odontoblast differentiation inevitably stops when growth of HERS is arrested, it seems to be unaffected even in cases of severe dentin dysplasias such as regional odontodysplasia and dentin dysplasia type I. As a result radicular dentin formation is at least initiated and progresses for a limited time. The only condition affecting cementogenesis is hypophosphatasia which disrupts the formation of acellular cementum through an inhibition of mineralization. A process particularly susceptible to adverse effects appears to be the formation of the furcation in multirooted teeth. Impairment or disruption of this process entails taurodontism, single-rooted posterior teeth, and misshapen furcations. Thus even though many characteristics of human root malformations can be related to disorders of specific processes involved in radicular morphogenesis, precise inferences as to the pathogenesis of these dysplasias are hampered by the still limited knowledge on

  2. Oral vascular malformations: laser treatment and management

    Science.gov (United States)

    Romeo, U.; Rocchetti, F.; Gaimari, G.; Tenore, G.; Palaia, G.; Lo Giudice, G.

    2016-03-01

    Vascular malformations are a very heterogeneous group of circulatory system's diseases that can involve different kind of vessels: arterial, venous or lymphatic ones. Many treatments, such as conventional surgery, embolization, steroid therapy and laser therapy, are available for vascular lesions. The laser approach relies more therapeutic techniques: the transmucosal thermophotocoagulation, intralesional photocoagulation, the excisional biopsy. Today laser is demonstrated to be the gold standard technique to treat vascular lesions that allows a safe and efficient treatment and a lower post-operative healing time. The only disadvantage is the risk of carbonization that could be avoided by using the multiple-spot single pulsed wave technique.

  3. Pediatric aneurysms and vein of Galen malformations

    Science.gov (United States)

    Rao, V. R. K.; Mathuriya, S. N.

    2011-01-01

    Pediatric aneurysms are different from adult aneurysms – they are more rare, are giant and in the posterior circulation more frequently than in adults and may be associated with congenital disorders. Infectious and traumatic aneursyms are also seen more frequently. Vein of Galen malformations are even rarer entities. They may be of choroidal or mural type. Based on the degree of AV shunting they may present with failure to thrive, with hydrocephalus or in severe cases with heart failure. The only possible treatment is by endovascular techniques – both transarterial and transvenous routes are employed. Rarely transtorcular approach is needed. These cases should be managed by an experienced neurointerventionist. PMID:22069420

  4. Prevalence of Chiari I Malformation and Syringomyelia.

    Science.gov (United States)

    Kahn, Elyne N; Muraszko, Karin M; Maher, Cormac O

    2015-10-01

    Chiari I malformation (CM) is a common neurosurgical diagnosis and spinal cord syrinx is frequently found in patients with CM. Asymptomatic CM is a common imaging finding. Symptomatic CM is less common. Variation in prevalence estimates may be attributed to differences in sensitivity of CM detection between studies as well as differences in the populations being analyzed. The prevalence of low tonsil position and CM on MRI is higher in children and young adults compared with older adults. Studies that include a large number of older adults find a lower prevalence compared with analyses of children.

  5. Unique double recurrence of cerebral arteriovenous malformation.

    Science.gov (United States)

    Nagm, Alhusain; Horiuchi, Tetsuyoshi; Ichinose, Shunsuke; Hongo, Kazuhiro

    2015-09-01

    Surgically treated patients with arteriovenous malformations (AVMs) are considered cured when the postoperative angiogram proves complete resection. However, despite no residual nidus or early draining vein on postoperative angiogram, rare instances of AVM recurrence have been reported in adults. In this paper, the authors present a case of a 24-year-old woman with asymptomatic double recurrence of her cerebral AVM after angiographically proven complete resection. To the authors' knowledge, this patient represents the first case with double de novo asymptomatic recurrence of Spetzler-Martin grade I AVM. Also, she represents the first case with unique AVM criteria in each recurrence.

  6. [Recurrent meningitis in inner ear malformations].

    Science.gov (United States)

    Claros, Pedro; Matusialk, Monika

    2008-01-01

    Authors present two cases of children with reccurent meningitis and unilateral deafness. Implemented diagnostics (CT, NMR, ABR) revealed one side inner ear congenital malformation in one case and anterior fossa bony defect accompanied by labirynthine deformation in the other case. The presence of perilymphatic fistulae in oval and round windows and cerebrospinal fluid leakage has been confirmed in both cases during surgery. Carefull obliteration of the Eustachian tube and both windows has been performed. Non- complicated postoperative course (2 months and 6 years - respectively) has prooved the effectiveness of applied treatment.

  7. Congenital malformations of the temporal bone.

    Science.gov (United States)

    Mukerji, Shraddha S; Parmar, Hemant A; Ibrahim, Mohannad; Mukherji, Suresh K

    2011-08-01

    Congenital ear or temporal bone malformations are a diagnostic challenge to radiologists and surgeons alike. Newer imaging techniques can detect subtle changes in middle ear and cochlear anatomy. This information is invaluable with increasing use of hearing restoration surgeries and/or cochlear implants in such patients. This article discusses the embryogenesis, classification system, and salient imaging findings of congenital outer, middle ear, and inner ear anomalies in children. Both high-resolution computerized tomography and magnetic resonance imaging scans of the temporal bones are described.

  8. Stenogyria - not only in Chiari II malformation.

    Science.gov (United States)

    Bekiesinska-Figatowska, Monika; Duczkowska, Agnieszka; Brągoszewska, Hanna; Duczkowski, Marek; Mierzewska, Hanna

    2014-12-15

    Stenogyria, meaning multiple small compacted gyri separated by shallow sulci, is reported in the literature in association with Chiari II malformation (CM II) which in turn is reported in association with myelomeningocele (MMC). The authors present five cases of stenogyria (and other abnormalities found in CM II, like callosal hypoplasia/dysplasia, agenesis of the anterior commissure, hypoplasia of the falx cerebri) in children without the history of MMC or any other form of open spinal dysraphism. In these cases stenogyria was associated with Chiari I malformation, rhombencephalosynapsis and spina bifida. Stenogyria, which is not a true neuronal migration disorder, should not be mistaken for polymicrogyria which is also present in CM II. It is histologically different from polymicrogyria because the cortex is normally organized. Also on MRI, the general sulcal pattern is preserved in stenogyria, while it is completely distorted in polymicrogyria. The authors conclude that features traditionally attributed to CM II, like stenogyria, occur not only in the population of patients with MMC as opposed to the widely accepted theory.

  9. Imaging in spine and spinal cord malformations

    Energy Technology Data Exchange (ETDEWEB)

    Rossi, Andrea E-mail: a.rossi@panet.itandrearossi@ospedale-gaslini.ge.it; Biancheri, Roberta; Cama, Armando; Piatelli, Gianluca; Ravegnani, Marcello; Tortori-Donati, Paolo

    2004-05-01

    Spinal and spinal cord malformations are collectively named spinal dysraphisms. They arise from defects occurring in the early embryological stages of gastrulation (weeks 2-3), primary neurulation (weeks 3-4), and secondary neurulation (weeks 5-6). Spinal dysraphisms are categorized into open spinal dysraphisms (OSDs), in which there is exposure of abnormal nervous tissues through a skin defect, and closed spinal dysraphisms (CSD), in which there is a continuous skin coverage to the underlying malformation. Open spinal dysraphisms basically include myelomeningocele and other rare abnormalities such as myelocele and hemimyelo(meningo)cele. Closed spinal dysraphisms are further categorized based on the association with low-back subcutaneous masses. Closed spinal dysraphisms with mass are represented by lipomyelocele, lipomyelomeningocele, meningocele, and myelocystocele. Closed spinal dysraphisms without mass comprise simple dysraphic states (tight filum terminale, filar and intradural lipomas, persistent terminal ventricle, and dermal sinuses) and complex dysraphic states. The latter category further comprises defects of midline notochordal integration (basically represented by diastematomyelia) and defects of segmental notochordal formation (represented by caudal agenesis and spinal segmental dysgenesis). Magnetic resonance imaging (MRI) is the preferred modality for imaging these complex abnormalities. The use of the aforementioned classification scheme is greatly helpful to make the diagnosis.

  10. Vascular permeability in cerebral cavernous malformations

    DEFF Research Database (Denmark)

    Mikati, Abdul G; Khanna, Omaditya; Zhang, Lingjiao;

    2015-01-01

    Patients with the familial form of cerebral cavernous malformations (CCMs) are haploinsufficient for the CCM1, CCM2, or CCM3 gene. Loss of corresponding CCM proteins increases RhoA kinase-mediated endothelial permeability in vitro, and in mouse brains in vivo. A prospective case-controlled observ......Patients with the familial form of cerebral cavernous malformations (CCMs) are haploinsufficient for the CCM1, CCM2, or CCM3 gene. Loss of corresponding CCM proteins increases RhoA kinase-mediated endothelial permeability in vitro, and in mouse brains in vivo. A prospective case......-controlled observational study investigated whether the brains of human subjects with familial CCM show vascular hyperpermeability by dynamic contrast-enhanced quantitative perfusion magnetic resonance imaging, in comparison with CCM cases without familial disease, and whether lesional or brain vascular permeability...... correlates with CCM disease activity. Permeability in white matter far (WMF) from lesions was significantly greater in familial than in sporadic cases, but was similar in CCM lesions. Permeability in WMF increased with age in sporadic patients, but not in familial cases. Patients with more aggressive...

  11. Intralesional laser therapy for vascular malformations.

    Science.gov (United States)

    Ma, Linda W; Levi, Benjamin; Oppenheimer, Adam J; Kasten, Steven J

    2014-11-01

    Intralesional laser therapy for the treatment of vascular malformations (VMs) has been previously reported for select patient populations. Larger studies, over a wider variety of indications, are needed to better define the potential role of this technology. In the current study, a 12-year, retrospective review of 44 patients who underwent 73 intralesional Nd:YAG or diode laser treatments of VMs was performed. The most commonly encountered lesions were venous malformations (66%) and the most commonly involved anatomic locations were the head and neck regions (41%) and lower extremity (39%). Primary indications for treatment were enlargement (73%) and pain (52%). Lesion size was reduced in 94% of cases after treatment and pain was improved in 91% of cases. Minor postoperative complications occurred in 16 (36%) patients. There was no difference in treatment response among various VM subtypes or anatomic locations (P=0.497, P=0.866) or in the incidence of complications (P=0.531, P=0.348). Age was the only factor associated with an increased risk of complications (odds ratio, 1.034; P=0.038). When used in accordance with the suggested guidelines, intralesional laser therapy is a safe and effective treatment modality for VMs of varying compositions and locations.

  12. Imaging in spine and spinal cord malformations.

    Science.gov (United States)

    Rossi, Andrea; Biancheri, Roberta; Cama, Armando; Piatelli, Gianluca; Ravegnani, Marcello; Tortori-Donati, Paolo

    2004-05-01

    Spinal and spinal cord malformations are collectively named spinal dysraphisms. They arise from defects occurring in the early embryological stages of gastrulation (weeks 2-3), primary neurulation (weeks 3-4), and secondary neurulation (weeks 5-6). Spinal dysraphisms are categorized into open spinal dysraphisms (OSDs), in which there is exposure of abnormal nervous tissues through a skin defect, and closed spinal dysraphisms (CSD), in which there is a continuous skin coverage to the underlying malformation. Open spinal dysraphisms basically include myelomeningocele and other rare abnormalities such as myelocele and hemimyelo(meningo)cele. Closed spinal dysraphisms are further categorized based on the association with low-back subcutaneous masses. Closed spinal dysraphisms with mass are represented by lipomyelocele, lipomyelomeningocele, meningocele, and myelocystocele. Closed spinal dysraphisms without mass comprise simple dysraphic states (tight filum terminale, filar and intradural lipomas, persistent terminal ventricle, and dermal sinuses) and complex dysraphic states. The latter category further comprises defects of midline notochordal integration (basically represented by diastematomyelia) and defects of segmental notochordal formation (represented by caudal agenesis and spinal segmental dysgenesis). Magnetic resonance imaging (MRI) is the preferred modality for imaging these complex abnormalities. The use of the aforementioned classification scheme is greatly helpful to make the diagnosis.

  13. Twin pregnancy in the congenital malformed uterus.

    Science.gov (United States)

    Heinonen, Pentti K

    2016-07-01

    The frequency and outcome of twin pregnancies in women with uterine malformation were studied. The cohort comprised 13 (4.9%) women with twin pregnancy found among 263 women. They had 483 deliveries, 13 of them twins (2.7%; 95% CI 1.6-4.6%). Among 38 patients with unicornuate uterus 5 (6.8%) out of 74 deliveries were twins, 39 women with didelphic uterus 2 (3.2%) out of 62 deliveries and 147 women with septate or subseptate uterus 6 (2.3%) out of 264 deliveries were twins. The mean duration of gestation was 249 days (range 190-268 days), 5 (38%) out of 13 deliveries were premature, 25 out of 26 newborns were alive. Mean durations of gestation and mean weights of newborns did not differ when 7 cases with unicornuate or didelphic uterus were compared to 6 cases with complete or partial uterine septum. A congenital malformed uterus can bear twin pregnancy without severe complications apart from prematurity.

  14. Pathogenesis and Cerebrospinal Fluid Hydrodynamics of the Chiari I Malformation.

    Science.gov (United States)

    Buell, Thomas J; Heiss, John D; Oldfield, Edward H

    2015-10-01

    This article summarizes the current understanding of the pathophysiology of the Chiari I malformation that is based on observations of the anatomy visualized by modern imaging with MRI and prospective studies of the physiology of patients before and after surgery. The pathogenesis of a Chiari I malformation of the cerebellar tonsils is grouped into 4 general mechanisms.

  15. Craniovertebral Junction Instability in the Setting of Chiari I Malformation.

    Science.gov (United States)

    Goldstein, Hannah E; Anderson, Richard C E

    2015-10-01

    This article addresses the key features, clinical presentation, and radiographic findings associated with craniovertebral junction instability in the setting of Chiari I malformation. It further discusses surgical technique for treating patients with Chiari I malformation with concomitant craniovertebral junction instability, focusing on modern posterior rigid instrumentation and fusion techniques.

  16. Abernethy malformation with portal vein aneurysm in a child

    OpenAIRE

    Sheragaru H Chandrashekhara; Ashu Seith Bhalla; Arun Kumar Gupta; Vikash, C. S.; Susheel Kumar Kabra

    2011-01-01

    Abernethy malformation is an extremely rare anomaly of the splanchnic venous system. We describe multidetector computed tomography findings of an incidentally detected Abernethy malformation with portal vein aneurysm in a two-and-half-year old child. The computed tomography scan was performed for the evaluation of respiratory distress, poor growth, and loss of appetite.

  17. Valproic acid monotherapy in pregnancy and major congenital malformations

    DEFF Research Database (Denmark)

    Jentink, Janneke; Loane, Maria A; Dolk, Helen

    2010-01-01

    The use of valproic acid in the first trimester of pregnancy is associated with an increased risk of spina bifida, but data on the risks of other congenital malformations are limited.......The use of valproic acid in the first trimester of pregnancy is associated with an increased risk of spina bifida, but data on the risks of other congenital malformations are limited....

  18. Epizootic of ovine congenital malformations associated with Schmallenberg virus infection

    NARCIS (Netherlands)

    Brom, van der R.; Luttikholt, S.J.; Lievaart-Peterson, K.; Peperkamp, N.H.M.T.; Mars, M.H.; Poel, van der W.H.M.; Vellema, P.

    2012-01-01

    Epizootic outbreaks of congenital malformations in sheep are rare and have, to the best of our knowledge, never been reported before in Europe. This paper describes relevant preliminary findings from the first epizootic outbreak of ovine congenital malformations in the Netherlands. Between 25 Novemb

  19. Epizootic of ovine congenital malformations associated with Schmallenberg virus infection

    NARCIS (Netherlands)

    Brom, van der R.; Luttikholt, S.J.; Lievaart-Peterson, K.; Peperkamp, N.H.M.T.; Mars, M.H.; Poel, van der W.H.M.; Vellema, P.

    2012-01-01

    Epizootic outbreaks of congenital malformations in sheep are rare and have, to the best of our knowledge, never been reported before in Europe. This paper describes relevant preliminary findings from the first epizootic outbreak of ovine congenital malformations in the Netherlands. Between 25

  20. NPHP4 variants are associated with pleiotropic heart malformations.

    NARCIS (Netherlands)

    French, V.M.; Laar, I.M. van de; Wessels, M.W.; Rohe, C.; Roos-Hesselink, J.W.; Wang, G.; Frohn-Mulder, I.M.; Severijnen, L.A.; Graaf, B.M. de; Schot, R.; Breedveld, G.; Mientjes, E.; Tienhoven, M. van; Jadot, E.; Jiang, Z.; Verkerk, A.; Swagemakers, S.; Venselaar, H.; Rahimi, Z.; Najmabadi, H.; Meijers-Heijboer, H.; Graaff, E. de; Helbing, W.A.; Willemsen, R.; Devriendt, K.; Belmont, J.W.; Oostra, B.A.; Amack, J.D.; Bertoli-Avella, A.M.

    2012-01-01

    RATIONALE: Congenital heart malformations are a major cause of morbidity and mortality, especially in young children. Failure to establish normal left-right (L-R) asymmetry often results in cardiovascular malformations and other laterality defects of visceral organs. OBJECTIVE: To identify genetic m

  1. NPHP4 variants are associated with pleiotropic heart malformations

    NARCIS (Netherlands)

    V.M. French (Vanessa); I.M.B.H. van de Laar (Ingrid); M.W. Wessels (Marja); C.F. Rohe; J.W. Roos-Hesselink (Jolien); G. Wang (Guangliang); I.M.E. Frohn-Mulder (Ingrid); E.A.W.F.M. Severijnen (Lies-Anne); B.M. de Graaf (Bianca); R. Schot (Rachel); G.J. Breedveld (Guido); E.J. Mientjes (Edwin); M. van Tienhoven (Marianne); E. Jadot (Elodie); Z. Jiang (Zhengxin); A. Verkerk; S.M.A. Swagemakers (Sigrid); H. Venselaar (Hanka); Z. Rahimi (Zohreh); H. Najmabadi (Hossein); E.J. Meijers-Heijboer (Hanne); E. de Graaff (Esther); W.A. Helbing (Willem); R. Willemsen (Rob); K. Devriendt (Koenraad); J.W. Belmont (John); B.A. Oostra (Ben); J.D. Amack (Jeffrey); A.M. Bertoli Avella (Aida)

    2012-01-01

    textabstractRationale: Congenital heart malformations are a major cause of morbidity and mortality, especially in young children. Failure to establish normal left-right (L-R) asymmetry often results in cardiovascular malformations and other laterality defects of visceral organs. Objective: To identi

  2. [The progress of inner ear malformation in radiological research].

    Science.gov (United States)

    Kong, Dehua; Fu, Kuang; Zhao, Hui

    2016-01-01

    Inner ear malformations are anomalies linking to development insults at different periods of embryogenesis,which are common causes of congenital sensorineural hearing loss. The evaluation of pediatric sensorineural hearing loss mostly depends on high-resolution computed tomography and magnetic resonance imaging, which can excellently depict the temporal bones and inner ear malformations.

  3. Abernethy malformation with portal vein aneurysm in a child

    Directory of Open Access Journals (Sweden)

    Sheragaru H Chandrashekhara

    2011-01-01

    Full Text Available Abernethy malformation is an extremely rare anomaly of the splanchnic venous system. We describe multidetector computed tomography findings of an incidentally detected Abernethy malformation with portal vein aneurysm in a two-and-half-year old child. The computed tomography scan was performed for the evaluation of respiratory distress, poor growth, and loss of appetite.

  4. Congenital malformations of the external and middle ear

    Energy Technology Data Exchange (ETDEWEB)

    Koesling, S. [University of Halle, Department of Diagnostic Radiology (Germany)], E-mail: sabrina.koesling@medizin.uni-halle.de; Omenzetter, M. [University of Halle, Department of Diagnostic Radiology (Germany); Bartel-Friedrich, S. [University of Halle, Department of Otorhinolaryngology - Head and Neck Surgery, Section of Phoniatrics and Pedaudiology (Germany)

    2009-02-15

    With the focus on imaging, this paper gives a summarized view of the present knowledge on fields, which are necessary to know for a profound understanding of congenital malformations of the external and middle ear. Typical and less typical combinations of malformed parts of the ear can be derived from the embryogenesis. Clinical signs and audiometric findings lead to diagnosis in congenital aural atresia. Isolated middle ear malformations can be clinically mixed up especially with otosclerosis and tympanosclerosis. Imaging is needed for exact morphological information. In malformations of the external and middle ear, CT is the imaging modality of choice. Requirements on CT-technique as well as radiological findings including classification and pre-surgical rating are described. Morphological CT-correlates of congenital malformations and their differential diagnoses are enlisted and illustrated. The impact of CT-results on therapy is explained and actual therapeutic concepts are briefly presented.

  5. Malformations of cortical development: genetic mechanisms and diagnostic approach

    Science.gov (United States)

    2017-01-01

    Malformations of cortical development are rare congenital anomalies of the cerebral cortex, wherein patients present with intractable epilepsy and various degrees of developmental delay. Cases show a spectrum of anomalous cortical formations with diverse anatomic and morphological abnormalities, a variety of genetic causes, and different clinical presentations. Brain magnetic resonance imaging has been of great help in determining the exact morphologies of cortical malformations. The hypothetical mechanisms of malformation include interruptions during the formation of cerebral cortex in the form of viral infection, genetic causes, and vascular events. Recent remarkable developments in genetic analysis methods have improved our understanding of these pathological mechanisms. The present review will discuss normal cortical development, the current proposed malformation classifications, and the diagnostic approach for malformations of cortical development. PMID:28203254

  6. Venous malformations: classification, development, diagnosis, and interventional radiologic management.

    Science.gov (United States)

    Legiehn, Gerald M; Heran, Manraj K S

    2008-05-01

    Venous malformations are categorized as low-flow vascular malformations within the domain of vascular anomalies and are the most common vascular malformation encountered clinically. Venous malformations are by definition present at birth, undergo pari passu growth, and present clinically because of symptoms related to mass effect or stasis. Although diagnosis can usually be made by clinical history and examination, differentiation from other vascular and nonvascular entities often requires an imaging work-up that includes ultrasound, CT, MR imaging, and diagnostic phlebography. All decisions regarding imaging work-up and decision to treat must be coordinated though referral and discussions with a multidisciplinary team and be based on clearly defined clinical indications. Percutaneous image-guided sclerotherapy has become the mainstay of treatment for venous malformations and involves the introduction of any one of a number of endothelial-cidal sclerosants into the vascular spaces of the lesion, with each sclerosant possessing its own unique spectrum of advantages and disadvantages.

  7. [Cochlear implant for malformations of the inner ear].

    Science.gov (United States)

    Aschendorff, A; Laszig, R; Maier, W; Beck, R; Schild, C; Birkenhäger, R; Wesarg, T; Kröger, S; Arndt, S

    2009-06-01

    The radiologic evaluation of the temporal bone in cochlear implant candidates can detect malformations of the inner ear in up to 20% of cases. The aim of our study was to analyze and classify malformations of the inner ear in patients with cochlear implants carried out from 2001 to 2009. Malformations of the inner ear, including malformations of the internal auditory canal were detected in 12.7% of children and 3.4% of adults. Mondini dysplasia was most common and occurred in 45% of cases. The surgical procedure had to be adapted according to the individual malformation. Modification of surgical access, management of intraoperative CSF gusher, choice of electrode array, intraoperative imaging and the use of navigation were the most important factors. Rehabilitation results were generally very positive and corresponded to the expectation depending on the duration of deafness, if no additional handicaps were present.

  8. Pretreatment imaging of peripheral vascular malformations

    Directory of Open Access Journals (Sweden)

    Johnson JB

    2014-10-01

    Full Text Available Joshua B Johnson, Petrice M Cogswell, Michael A McKusick, Larry A Binkovitz, Stephen J Riederer, Phillip M Young Department of Radiology, Mayo Clinic, Rochester, MN, USA Abstract: Peripheral vascular malformations (VMs are complex and diverse vascular lesions which require individualized pretreatment planning. Pretreatment imaging using various modalities, especially magnetic resonance imaging and time-resolved magnetic resonance angiography, is a valuable tool for classifying peripheral VMs to allow proper diagnosis, demonstrate complete extent, identify the nidus, and distinguish between low-flow and high-flow dynamics that determines the treatment approach. We discuss pretreatment imaging findings in four patients with peripheral VMs and how diagnostic imaging helped guide management. Keywords: time-resolved MRA, cartesian acquisition with projection-like reconstruction, endovascular treatment, magnetic resonance angiography

  9. Congenital cardiovascular malformations and the fetal circulation.

    Science.gov (United States)

    Rudolph, A M

    2010-03-01

    After birth, gas exchange is achieved in the lung, whereas prenatally it occurs in the placenta. This is associated with differences in blood flow patterns in the fetus as compared with the postnatal circulation. Congenital cardiovascular malformations are associated with haemodynamic changes in the fetus, which differ from those occurring postnatally. Obstruction to cardiac outflow may alter myocardial development, resulting in progressive ventricular hypoplasia. Alteration of oxygen content may profoundly influence pulmonary vascular and ductus arteriosus responses. Interference in blood flow and oxygen content may affect cerebral development as a result of inadequate oxygen or energy substrate supply. The circulatory effects may be gestational dependent, related to maturation of vascular responses in different organs. These prenatal influences of congenital cardiac defects may severely affect immediate, as well as longterm, postnatal prognosis and survival. This has stimulated the development of techniques for palliation of disturbed circulation during fetal life.

  10. Vascular malformations in the maxillofacial region

    Directory of Open Access Journals (Sweden)

    M. Jafari

    1994-06-01

    Full Text Available Congenital vascular lesions occur most often in children. Parents of these children take them to maxillofacial surgeons directly or during the treatment of other complications such as infection or jaw bone disorders. Various terms now used are unable to describe the pathogenesis and mechanism of the effect of vascular lesions on growth and development of facial bone.  Term of hemangioma is used in almost all cases of congenital and acquired vascular lesions, while fibrosis or shrinkage occurs in some of these lesions over the time. There is also some confusion in describing the vascular lesions which primarily affected bones and soft tissue vascular malformations associated with changes in hard tissues.

  11. Gastrointestinal malformations in Gorgan, North of Iran: epidemiology and associated malformations.

    Science.gov (United States)

    Golalipour, Mohammad Jafar; Mobasheri, Elham; Hoseinpour, Kaniz-Reza; Keshtkar, Abbas Ali

    2007-01-01

    The aim of this prospective study was to evaluate the prevalence and pattern of gastrointestinal malformations (GIM) among Iranian newborns in Gorgan, North of Iran. From 1998 through 2003, 37,951 live births in Dezyani hospital in Gorgan, North of Iran, were screened for gastrointestinal malformations. Clinical and demographic factors of diagnosed cases were recorded in a pre-designed questionnaire for analysis; sex, ethnicity, type of GIM and associated anomalies. The overall prevalence rate of gastrointestinal malformations was 10 per 10,000 births. The imperforate anus (5 per 10,000) was the commonest birth defect in gastrointestinal tract. The prevalence rate of GIM was 8.2 per 10,000 in males and 10.7 per 10,000 in females. According to the parental ethnicity, the prevalence rates of GIM were 6.7, 15.8 and 17.6 per 10,000 in Fars, Turkman, and Sistani, respectively. There were eight cases (21%) with associated anomalies. The prevalence rate of GIM in North of Iran is not similar to the previous studies in Iran and Middle East and ethnic background may be a causative factor in the rate of GIM in this area.

  12. Pulmonary arteriovenous malformations: overview and transcatheter embolotherapy

    Energy Technology Data Exchange (ETDEWEB)

    Pugash, R.A. [Univ. of Toronto, St. Michael' s Hospital, Dept. of Medical Imaging, Toronto, Ontario (Canada)

    2001-04-01

    The majority of pulmonary arteriovenous malformations (pAVMs) are found in people with hereditary hemorrhagic telangiectasia (HHT), a condition also known as Osler-Weber-Rendu syndrome. HHT is a clinically heterogeneous autosomal dominant disorder in which abnormal blood vessels cause bleeding and arteriovenous shunting. The 2 basic lesions of HHT - telangiectasias and arteriovenous malformations (AVMs) - are closely related. Multisystem involvement leads to a staggering array of clinical manifestations, making HHT one of medicine's less familiar 'great pretenders'. Telangiectasias are dilated blood vessels, typically located in mucocutaneous surfaces (i.e., skin, conjunctiva, respiratory tract, gastrointestinal tract, urinary tract). Small telangiectasias are simply dilated post-capillary venules, whereas larger telangiectasias are made up of dilated arterioles and venules, often with no intervening capillary. They are, in essence, diminutive AVMs. These tiny lesions are visible as punctate bright red spots on skin and mucosal surfaces (Fig. 1). Their fragility and superficial location account for the disabling epistaxis and chronic gastrointestinal bleeding, which are so common with HHT. Hematuria (caused by urothelial telangiectasias) occurs occasionally but is not a prominent feature of the disease. Although tracheobronchial telangiectasias do occur and may cause hemoptysis, severe hemoptysis is typically related to pAVM rupture. AVMs are direct artery-to-vein connections. Though larger and far more impressive radiologically than telangiectasias, AVMs are more likely to be clinically silent until they either declare themselves in a catastrophic fashion or are detected by screening tests. In contrast to telangiectasias, which are generally found in epithelial surfaces, AVMs tend to develop within organs, most commonly the lung and brain. As screening methods evolve, liver involvement with both telangiectasias and complex AVMs is being recognized

  13. Seizure risk from cavernous or arteriovenous malformations

    Science.gov (United States)

    Josephson, C.B.; Leach, J.-P.; Duncan, R.; Roberts, R.C.; Counsell, C.E.

    2011-01-01

    Objectives: To determine the risk of epileptic seizures due to a brain arteriovenous malformation (AVM) or cavernous malformation (CM). Methods: In a prospective population-based study of new diagnoses of AVMs (n = 229) or CMs (n = 139) in adults in Scotland in 1999–2003, we used annual medical records surveillance, general practitioner follow-up, and patient questionnaires to quantify the risk of seizures between clinical presentation and AVM/CM treatment, last follow-up, or death. Results: The 5-year risk of first-ever seizure after presentation was higher for AVMs presenting with intracranial hemorrhage or focal neurologic deficit (ICH/FND: n = 119; 23%, 95% confidence interval [CI] 9%–37%) than for incidental AVMs (n = 40; 8%, 95% CI 0%–20%), CMs presenting with ICH/FND (n = 38; 6%, 95% CI 0%–14%), or incidental CMs (n = 57; 4%, 95% CI 0%–10%). For adults who had never experienced ICH/FND, the 5-year risk of epilepsy after first-ever seizure was higher for CMs (n = 23; 94%, 95% CI 84%–100%) than AVMs (n = 37; 58%, 95% CI 40%–76%; p = 0.02). Among adults who never experienced ICH/FND and presented with or developed epilepsy, there was no difference in the proportions achieving 2-year seizure freedom over 5 years between AVMs (n = 43; 45%, 95% CI 20%–70%) and CMs (n = 35; 47%, 95% CI 27%–67%). Conclusions: AVM-related ICH confers a significantly higher risk of a first-ever seizure compared to CMs or incidental AVMs. Adults with a CM have a high risk of epilepsy after a first-ever seizure but achieve seizure freedom as frequently as those with epilepsy due to an AVM. PMID:21536634

  14. Temporary umbilical loop colostomy for anorectal malformations.

    Science.gov (United States)

    Hamada, Yoshinori; Takada, Kohei; Nakamura, Yusuke; Sato, Masahito; Kwon, A-Hon

    2012-11-01

    Transumbilical surgical procedures have been reported to be a feasible, safe, and cosmetically excellent procedure for various pediatric surgical diseases. Umbilical loop colostomies have previously been created in patients with Hirschsprung's disease, but not in patients with anorectal malformations (ARMs). We assessed the feasibility and cosmetic results of temporal umbilical loop colostomy (TULC) in patients with ARMs. A circumferential skin incision was made at the base of the umbilical cord under general anesthesia. The skin, subcutaneous tissue, and fascia were cored out vertically, and the umbilical vessels and urachal remnant were individually ligated apart from the opening in the fascia. A loop colostomy was created in double-barreled fashion with a high chimney more than 2 cm above the level of the skin. The final size of the opening in the skin and fascia was modified according to the size of the bowel. The bowel wall was fixed separately to the peritoneum and fascia with interrupted 5-0 absorbable sutures. The bowel was opened longitudinally and everted without suturing to the skin. The loop was divided 7 days postoperatively, and diversion of the oral bowel was completed. The colostomy was closed 2-3 months after posterior saggital anorectoplasty through a peristomal skin incision followed by end-to-end anastomosis. Final wound closure was performed in a semi-opened fashion to create a deep umbilicus. TULCs were successfully created in seven infants with rectourethral bulbar fistula or rectovestibular fistula. Postoperative complications included mucosal prolapse in one case. No wound infection or spontaneous umbilical ring narrowing was observed. Skin problems were minimal, and stoma care could easily be performed by attaching stoma bag. Healing of umbilical wounds after TULC closure was excellent. The umbilicus may be an alternative stoma site for temporary loop colostomy in infants with intermediate-type anorectal malformations, who undergo radical

  15. HISTOLOGICAL STUDY OF NEONATAL BOWEL IN ANORECTAL MALFORMATIONS

    Directory of Open Access Journals (Sweden)

    Amrish Tiwari

    2014-06-01

    Full Text Available Anorectal malformations are the congenital condition, seen in approximately 1 in 5000 live births. It affects male and female in the ratio of 1.3:1. Anorectal malformations include a wide range of malformations, that not only involves the anus and rectum, but it also involves urinary and genital tract. Aims and objectives of the study, was to understand the structures involved in anorectal malformations by histological study of surgically excised segments of involved part of neonatal intestine and to understand the degree and cause of possible structural impairment in different segments of involved parts of neonatal bowel that may help in the surgical management of anorectal malformations. Present study was conducted on surgically excised segments of fifteen cases of anorectal malformations, that have been collected from Department of Paediatrics Surgery, IMS, BHU. After that processing of the samples have been done and blocks have been prepared. Then after sectioning and staining with Hematoxyline and Eosin, findings have been noted under the microscope. Histopathological examination revealed the abnormalities of varying degrees. To conclude this study supports that the malformed segments should be excised, regarding controversial issue of preserving or excising the distal segment of anorectum for better functional outcome.

  16. Maternal Hypothyroidism in Early Pregnancy and Infant Structural Congenital Malformations

    Directory of Open Access Journals (Sweden)

    Bengt Källén

    2014-01-01

    Full Text Available Background. The question is debated on whether maternal hypothyroidism or use of thyroxin in early pregnancy affects the risk for infant congenital malformations. Objectives. To expand the previously published study on maternal thyroxin use in early pregnancy and the risk for congenital malformations. Methods. Data from the Swedish Medical Birth Register were used for the years 1996–2011 and infant malformations were identified from national health registers. Women with preexisting diabetes or reporting the use of thyreostatics, anticonvulsants, or antihypertensives were excluded from analysis. Risk estimates were made as odds ratios (ORs or risk ratios (RRs after adjustment for year of delivery, maternal age, parity, smoking, and body mass index. Results. Among 23 259 infants whose mothers in early pregnancy used thyroxin, 730 had a major malformation; among all 1 567 736 infants, 48012 had such malformations. The adjusted OR was 1.06 (95% CI 0.98–1.14. For anal atresia the RR was 1.85 (95% CI 1.00–1.85 and for choanal atresia 3.14 (95% CI 1.26–6.47. The risk of some other malformations was also increased but statistical significance was not reached. Conclusions. Treated maternal hypothyroidism may be a weak risk factor for infant congenital malformations but an association with a few rare conditions is possible.

  17. Eye malformations in Cameroonian children: a clinical survey

    Directory of Open Access Journals (Sweden)

    Eballé AO

    2012-10-01

    Full Text Available André Omgbwa Eballé,1,2 Augustin Ellong,3 Godefroy Koki,3 Ngoune Chantal Nanfack,3 Viola Andin Dohvoma,3 Côme Ebana Mvogo2,31Yaoundé Gynaecology, Obstetrics and Pediatrics Hospital, Yaoundé, Cameroon; 2Faculty of Medicine and Pharmaceutical Sciences, University of Douala, Cameroon; 3Faculty of Medicine and Biomedical Sciences, University of Yaoundé I, CameroonSummary: The aim of this work was to describe the clinical aspects of eye malformations observed at the ophthalmology unit of the Yaoundé Gynaecology, Obstetrics and Pediatrics Hospital.Patients and methods: We carried out a retrospective study of all malformations of the eye and its adnexae observed among children aged 0–5 years who were seen at the ophthalmology unit from January 2003 to December 2009.Results: Out of the 2254 children who were examined, 150 (6.65% presented eye malformations. The mean age was 14.40 ± 4 months. Eye malformations were diagnosed in 71.66% of cases during the first year of life. The most frequent malformations were congenital lacrimal duct obstruction (66.66%, congenital cataract (10.9%, congenital glaucoma (10.9%, microphthalmos (5.03%, and congenital ptosis (3.77%.Conclusion: Eye malformations among children can lead to visual impairment and are a cause for discomfort to children and parents. Therefore, systematic postnatal screening is recommended to enable early management.Keywords: malformations, ophthalmology, child, Cameroon

  18. [Imaging and audiology analysis of the congenital inner ear malformations].

    Science.gov (United States)

    Zhou, Bao; Lin, Shaolian; Lin, Youhui; Fang, Zheming; Ye, Shengnan; Zhang, Rong

    2015-11-01

    To investigate imaging and audiology features of temporal bone and analyze the classification and prevalence of inner ear abnormalities in children with sensorineural hearing loss. Children who were diagnosed with sensorineural hearing loss were examined by high resolution CT and the inner ear fluid of MRI. And each chart was retrospectively reviewed to determine the imaging and audiology features. There were 125 patients(232 ears) found with inner ear malformation in 590 children with SNHL. About 21.71% of the inner ear malformation occurred in severe and profound hearing loss ears, and 12.85% occurred in r moderate hearing loss ears. The inner ear malformation rate in normal hearing ears were 13.59%. CT and MRI examinations of temporal bone are important diagnostic tools to indentify inner ear malformations. Inner ear malformations are almost bilateral and hearing loss are profoud. Cochleo-vestibular malformations and large vestibular aqueduct are the 2 most frequent deformities. Among the children with SNHL, deformity rate in the severe and profound hearing loss ears is higher than that in moderate hearing loss ear. Inner ear malformations can exist in people with normal hearing.

  19. Outcome of cochlear implantation in children with cochlear malformations.

    Science.gov (United States)

    Bille, Jesper; Fink-Jensen, Vibeke; Ovesen, Therese

    2015-03-01

    The objective of the study was the evaluation of outcomes of cochlear implantation (CI) in children with cochlear malformations. A retrospective case-control study was conducted in a tertiary referral centre. The patients were children with inner ear malformation judged by high-resolution computed tomography and magnetic resonance imaging treated with uni- or bilateral CI and a follow-up period of at least 3 years. They were matched with a control group of children operated for other reasons. The patients were operated by one of two surgeons using similar techniques including a standard perimodiolar electrode in all cases. The intervention was therapeutic and rehabilitative. The main outcome measures were category of auditory performance (CAP) and speech intelligibility rating (SIR). Eighteen children were diagnosed with cochlear malformations (12 % of children receiving CI). No statistical differences regarding CAP and SIR scores were found between the two groups. Only one child was diagnosed with a common cavity and performed below average. Children with auditory neuropathy performed beyond average. Children with cochlear malformations performed equally to children without malformation in the long term. Standard perimodiolar electrodes can be used despite cochlear malformations. The most important factors determining the outcome is the age of the child at the time of implantation and duration of hearing loss before CI. Awareness towards an increased risk of complications in case of inner ear malformations is recommended.

  20. Congenital malformations of the spinal cord without early symptoms.

    Science.gov (United States)

    Moffie, D; Stefanko, S Z; Makkink, B

    1986-01-01

    Description of 11 patients with congenital malformations of the spinal cord. Six of them were males, five females and the age varied from 7 to 70 years. Most of these cases produced clinical neurological signs indicating spinal cord disease in later life during an intercurrent disease. It was thought that changes in the bloodvessels and/or perfusion of the area of the spinal cord malformation was the ultimate cause of the neurological symptoms. An exact explanation of the origin of these developmental disturbances of the spinal cord remains unknown. Different hypotheses proposed in the literature, concerning these malformations, are not satisfactory.

  1. [Arteriovenous malformation-glioma association: study of four cases].

    Science.gov (United States)

    Borges, Lia Raquel R; Malheiros, Suzana M F; Pelaez, Maria Paula; Stávale, João Norberto; Santos, Adrialdo J; Carrete, Henrique; Nogueira, Roberto Gomes; Ferraz, Fernando A P; Gabbai, Alberto A

    2003-06-01

    We reviewed the clinical presentation, imaging and histopathologic findings in 4 patients with the diagnosis of arteriovenous malformation associated with glioma that were operated on from 1991 to 2000 in our institution. Four patients (2 males; age between 15 and 52 years) presented with progressive headache with clinical evidence of intracranial hypertension (in 3) and partial seizures (in 1). CT scan showed a brain tumor without any detectable pathologic vessels. Histologic examination revealed astrocytic tumors associated with arteriovenous malformation. No patient presented the vascular component intermixed with the tumor. The arteriovenous-glioma association is rare and must be identified by a clear demarcation between the malformation and the tumor.

  2. Anthelmintic induced congenital malformations in sheep embryos using netobimin.

    Science.gov (United States)

    Navarro, M; Cristofol, C; Carretero, A; Arboix, M; Ruberte, J

    1998-01-24

    Benzimidazole compounds have teratogenic effects in domestic and experimental animals. In this study, 14 Manchega ewes were treated orally, under controlled conditions, with 20 mg netobimin (a prodrug of a benzimidazole compound) per/kg bodyweight on the 17th day of pregnancy. Congenital malformations and abortions affected 60 per cent of the lambs. The main malformations were skeletal and renal, but vascular malformations were observed for the first time. The abnormalities were investigated using radiological, dissection and vascular injection techniques, and associations among them were recorded. The anomalies are discussed in terms of embryological considerations.

  3. Otosclerosis associated with type B-1 inner ear malformation.

    Science.gov (United States)

    De Stefano, A; Dispenza, F; Aggarwal, N; Russo, A

    2010-06-01

    Malformations of bony inner ear are rare anomalies occurring in approximately 20% of patients with congenital sensorineural hearing loss. Conductive hearing loss is usually associated with abnormalities of the external and middle ear. Recent reports of patients with lateral semicircular canal malformations indicate inner ear malformations to be associated with sensorineural or conductive hearing loss. Differential diagnosis of conductive hearing loss should include otosclerosis, isolated ossicular deformities, inner ear anomalies or a combination of these. In this report, a case is described with right vestibule-lateral semicircular canal dysplasia presenting at our centre with bilateral otosclerosis.

  4. Congenital inner ear malformations without sensorineural hearing loss in children.

    Science.gov (United States)

    Ozeki, Michio; Kato, Zenichiro; Sasai, Hideo; Kubota, Kazuo; Funato, Michinori; Orii, Kenji; Kaneko, Hideo; Fukao, Toshiyuki; Kondo, Naomi

    2009-10-01

    Inner ear malformations are frequently found in patients with congenital hearing loss. It has been reported that normal hearing is rare in patients with severe inner ear vestibular malformations. A 9-year-old boy had had complained of recurrent dizziness and disequilibrium for 2 months. Clinical and neuro-otological examinations showed peripheral involvement of the vestibular system, while audiological investigation was normal. High-resolution magnetic resonance imaging, with three-dimensional reconstruction, showed dysplasia of the bilateral lateral semicircular canals (LSCCs). Isolated vestibular malformation might not be as rare as previously thought, and should be examined by imaging of the temporal bone.

  5. Evaluation of magnetic resonance imaging of Arnold-Chiari malformation

    Energy Technology Data Exchange (ETDEWEB)

    Yoshino, Kimihiro; Suga, Masakazu; Takemoto, Motohisa

    1987-06-01

    We evaluated the usefulness of magnetic resonance imaging (MRI) in the diagnosis of the Arnold-Chiari malformation. The patient, a 52-year-old man, complained of dizziness on walking. He initially refused to undergone myelography, but 4 months later, underwent MRI test, which lead to the diagnosis of Arnold-Chiari malformation (I type). Not all patients with symptoms of Arnold-Chiari malformation, syringomyelia, syringobulbia and cervical spinal tumor, undergone myelography, which is an invasive technique, therefore MRI should be the first examination for the patients with disorders involving the craniocervical junction.

  6. Role of sodium tetradecyl sulfate in venous malformations

    Directory of Open Access Journals (Sweden)

    Saraf Sanjay

    2006-01-01

    Full Text Available Venous malformations are one of the commonest anomalies of the vascular tree and their management has always remained a major challenge. Surgery and other treatment modalities are not always satisfactory and have a higher morbidity, recurrence and complication rate. The author retrospectively analyzed 40 patients of venous malformations who underwent sclerotherapy with sodium tetradecyl sulfate solely or as an adjunct to surgery. The purpose of the study was to evaluate the efficacy and safety of sodium tetradecyl sulfate sclerotherapy in the treatment of venous malformations.

  7. Rare anorectal malformation with a non-terminal colovesical fistula

    OpenAIRE

    2015-01-01

    We describe a unique case of anorectal malformation (ARM) with a non-terminal colovesical fistula. While some aspects are similar to the congenital pouch colon (CPC), the differences make it a distinct form.

  8. Type I Chiari malformation presenting central sleep apnea.

    Science.gov (United States)

    Kitamura, Takuro; Miyazaki, Soichiro; Kadotani, Hiroshi; Kanemura, Takashi; Okawa, Masako; Tanaka, Toshihiko; Komada, Ichiro; Hatano, Taketo; Suzuki, Hideaki

    2014-04-01

    Sleep apnea is a rare but a well-known clinical feature of type I Chiari malformation. It may be obstructive or central in nature. Sleep apnea in patients with type I Chiari malformation rarely presents without accompanying neurological signs or symptoms. We here report a case of a 10-year-old girl who presented with central sleep apnea without any other neurological signs but was ultimately diagnosed with type I Chiari malformation. The patient initially showed mild improvement in symptoms after administration of an acetazolamide. Finally, posterior fossa decompression dramatically improved her respiratory status during sleep, both clinically and on polysomnography. This case suggests that type I Chiari malformation should be considered in the differential diagnoses of central apneas in children, even if there are no other neurological signs and symptoms. Furthermore, sagittal craniocervical magnetic resonance imaging may be necessary for a definitive diagnosis.

  9. Dahomey NWR Malformed Frog Survey Data 2003-2004

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — Data set contains information concerning surveys for malformed frog collections on Dahomey NWR in MS from 2003-2004. Data were collected as part of the national...

  10. Amphibian malformation monitoring Modoc National Wildlife Refuge January 18 2005

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — This document reports the preliminary findings associated with routine sampling efforts to determine the prevalence of frog malformation at Modoc National Wildlife...

  11. Rare anorectal malformation with a non-terminal colovesical fistula

    Directory of Open Access Journals (Sweden)

    Sabine Vasseur Maurer

    2015-06-01

    Full Text Available We describe a unique case of anorectal malformation (ARM with a non-terminal colovesical fistula. While some aspects are similar to the congenital pouch colon (CPC, the differences make it a distinct form.

  12. [Cystic adenomatoid malformation of the lung. Importance of prenatal diagnosis].

    Science.gov (United States)

    Cabeza, Beatriz; Oñoro, Gonzalo; Cantarín Extremera, Verónica; Sanz Santiago, Verónica; Sequeiros, Adolfo

    2011-04-01

    Cystic adenomatoid malformation of the lung is a rare malformation of the lung airway which often performed diagnosed in the prenatal period by ultrasound. Ultrasound monitoring should be performed during pregnancy to assess lung development. We report the case of a 4-year-old patient with prenatal diagnosis of cystic adenomatoid malformation of the lung, not confirmed by chest radiograph at birth. The patient underwent surgery at 4 years of age after diagnosis was made for presenting recurrent pneumonia. A normal chest radiograph at birth does not exclude this malformation and a computerized tomography at 4 weeks of birth must be done to confirm or rule out this anomaly. Once the diagnosis is made, surgical treatment should be prompted to avoid complications.

  13. Epidermal Nevus Syndrome Associated with Brain Malformations and Medulloblastoma

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2013-01-01

    Full Text Available Researchers at Juntendo University and Tokyo Women’s Medical University, Japan; and University of California, San Francisco, Ca, report a male infant with epidermal nevus syndrome associated with brainstem and cerebellar malformations and neonatal medulloblastoma.

  14. Chiari-I malformation in two fighter pilots.

    Science.gov (United States)

    Akin, Ahmet; Canakci, Zafer; Sen, Ahmet; Tore, Hasan F

    2003-07-01

    This report describes two cases of Chiari Malformation Type I (Chiari-I) in fighter pilots of the Turkish Air Force. Chiari-I is a congenital malformation characterized by herniation of cerebellar tonsils through the foramen magnum. Patients have symptoms and signs related to dysfunction of the brainstem, spinal cord, and cerebellum. They generally are symptomatic in the earlier years of life. However, asymptomatic cases can eventually become symptomatic in later years. Symptoms can be provoked by increasing intracranial pressure (Valsalva or straining). We report on two pilots with Chiari-I malformation who had no symptoms or signs in their daily activities. Furthermore, these pilots had successfully completed physiological training, including centrifuge training, without any symptoms. However, they suffered from headache, neck spasms, and/or disequilibrium under +Gz during flight training sorties. The clinical presentation, diagnosis, treatment, possibility of acquired cases, and aeromedical disposition of Chiari malformations are discussed.

  15. Confusion between vascular malformations and hemangiomas-practical issues

    Directory of Open Access Journals (Sweden)

    Anca Chiriac

    2014-04-01

    Full Text Available A lot of confusion exists in daily practice regarding the terminology of vascular anomaly diagnosed in infants! Hemangioma is a vascular tumor and it is NOT a vascular malformation!

  16. Posterior fossa malformations: main features and limits in prenatal diagnosis

    Energy Technology Data Exchange (ETDEWEB)

    Garel, Catherine [Hopital d' Enfants Armand-Trousseau, Department of Radiology, Paris (France)

    2010-06-15

    Posterior fossa (PF) malformations are commonly observed during prenatal screening. Their understanding requires knowledge of the main steps of PF development and knowledge of normal patterns in US and MR imaging. The vast majority of PF malformations can be strongly suspected by acquiring a midline sagittal slice and a transverse slice and by systematically scrutinizing the elements of the PF: cerebellar vermis, hemispheres, brainstem, fourth ventricle, PF fluid spaces and tentorium. Analysis of cerebellar echogenicity and biometry is also useful. This review explains how to approach the diagnosis of the main PF malformations by performing these two slices and answering six key questions about the elements of the PF. The main imaging characteristics of PF malformations are also reviewed. (orig.)

  17. In utero MRI diagnosis of fetal malformations in oligohydramnios

    Directory of Open Access Journals (Sweden)

    Ahmed Hesham Said

    2016-12-01

    Conclusion: MRI is valuable in evaluating suspected fetal malformations especially those related to brain and urinary system when ultrasound is inconclusive owing to oligohydramnios. Fetal MRI can add findings that may modify prenatal diagnosis.

  18. Maternal smoking in pregnancy and risk for congenital malformations

    DEFF Research Database (Denmark)

    Leite, Mimmi; Albieri, Vanna; Kjaer, Susanne K.

    2014-01-01

    OBJECTIVE: To examine the association between maternal smoking during pregnancy and risk for congenital malformations. DESIGN: Population-based prospective cohort study. SETTING: Denmark. POPULATION: A total of 838 265 singleton liveborn babies delivered in Denmark between 1997 and 2010 and regis....... Future smoking cessation programs should focus on this adverse health aspect in order to encourage more women to quit smoking before or in early pregnancy.......OBJECTIVE: To examine the association between maternal smoking during pregnancy and risk for congenital malformations. DESIGN: Population-based prospective cohort study. SETTING: Denmark. POPULATION: A total of 838 265 singleton liveborn babies delivered in Denmark between 1997 and 2010...... and registered in the Danish Medical Birth Register containing detailed information on smoking during pregnancy and congenital malformations. METHODS: Associations [odds ratios (OR) with 95% CI] between maternal smoking and risk for various groups of congenital malformations, investigated using the generalized...

  19. Endovascular embolization of pulmonary arteriovenous malformations

    Institute of Scientific and Technical Information of China (English)

    LIU Feng-yong; WANG Mao-qiang; FAN Qing-sheng; DUAN Feng; WANG Zhi-jun; SONG Peng

    2010-01-01

    Background The major consequence of pulmonary arteriovenous malformations (PAVMs) is the direct inflow of blood from the pulmonary artery to the pulmonary vein which induces hypoxemia. Severe complications include transient ischemic attacks, paradoxical embolization in the central nervous system, massive hemoptysis or hemothorax, etc. The conventional treatment is surgical intervention. However, this can be very traumatic and dangerous. Endovascular embolization has advantages over surgery such as a faithful therapeutic effect, a low complication rate, repeatability, etc. Methods Patients (n=23) with symptomatic PAVMs underwent endovascular embolization; 11 were males and 12 were females, with ages ranging from 6 months to 58 years. During the embolization, microcoils were applied in 6 cases and standard steel coils were used in 17 cases.Results Multiple PAVMs lesions were found in 16 cases and single PAVMs lesion was found in 7 cases. Embolotherapy was carried out 28 times for 23 patients. The success rate was 100%. The results of pulmonary arteriography after treatment showed that single lesion disappeared completely while the main abnormal vessels in multiple lesions also disappeared. The mean blood oxygen saturation increased from (78.04±8.22)% to (95.13±3.67)% after the procedure. A correlated groups t test showed changes in blood oxygen saturation before and after embolization (fe=9.101, P <0.001). Symptoms of cardiac insufficiency disappeared in 5 cases and vascular murmur in the chest disappeared in 13 cases. After embolization, mild chest pain occurred in 11 cases, small amounts of pleural effusion occurred in 5 cases, and 1 patient died 2 months later because of a pyogenic infection secondary to the pulmonary infarction. Among the 22 remaining cases, with overall follow-up ranging from 18 months to 12 years, general conditions were fine, daily lives were normal and there were no neurologic symptoms or signs, except for 3 patients with diffused PAVMs who

  20. RECTAL DUPLICATION CYST IN PREVIOUS ANORECTAL MALFORMATION AND DOWN SYNDROME

    Directory of Open Access Journals (Sweden)

    A. Burgio

    2012-12-01

    Full Text Available Gastrointestinal (GI tract duplications are rare congenital malformations. Most of them occur in the ileum and only 1-5%, of all duplication, were in the rectum. Different clinical features including chronic constipation, rectal prolapsed or polips. We report on a 4-years-old girl with Down syndrome and anorectal malformation (ARM who was found to have a rectal duplication cyst.

  1. [Isolated respiratory insufficiency in Arnold-Chiari malformation].

    Science.gov (United States)

    Noseda, A; Devriendt, J; Hoffmann, G; Schmerber, J

    1996-01-01

    We report on a 45-year old woman with daytime sleepiness, polycythemia, hypoxemia and hypercapnia, admitted to hospital on three occasions in a 10 month period for acute respiratory failure. Polysomnography demonstrated apneas of central type, testing of the respiratory drive suggested central alveolar hypoventilation and magnetic resonance imaging showed an Arnold-Chiari malformation with syringomyelia. The originality of this case is the absence of any neurologic sign, respiratory failure being the sole manifestation of the Arnold-Chiari malformation.

  2. Complex split-cord malformation associated with situs inversus totalis

    Directory of Open Access Journals (Sweden)

    Deepak Agrawal

    2007-01-01

    Full Text Available Although meningoceles are known to be associated with split cord malformations, the association of dextrocardia is extremely rare. The authors report a case of a 15 day male child who had an atretic meningocele in the lumbosacral region along with dextrocardia and a split cord malformation with a posterior spur. This importance of preoperative MRI for proper management of such patients is highlighted in this report.

  3. Revision Stapedectomy in a Female Patient with Inner Ear Malformation

    OpenAIRE

    Patel, Tirth R.; Moberly, Aaron C.

    2016-01-01

    Objectives. We describe an unusual case of surgical management of congenital mixed hearing loss in a female patient with inner ear malformation. This report outlines the role of temporal bone imaging and previous surgical history in evaluating a patient’s risk of perilymph gusher during stapes surgery. Methods. A 68-year-old female patient with a history of profound bilateral mixed hearing loss due to ossicular and cochlear malformation presented to our otology clinic. She had undergone multi...

  4. Computed tomography of the pathological temporal bone. Malformations. Otospongiosis

    Energy Technology Data Exchange (ETDEWEB)

    Azais, O.; Drouineau, J.; Vandermarcq, P.; Barret, D.; Gasquet, C.

    1988-01-01

    The authors evaluate the value of computed tomography in the investigation of malformations and otospongiosis of the ear. Although the CT scan appears to be essential in the preoperative of malformations of the ear, especially as otological examination frequently contributes little to the evaluation of the middle ear, otospongiosis seems to be a less formal indication, except in the predominantly cochlear forms of the disease.

  5. Treatment of venous malformations (VM): The cutting edge knowledge

    Institute of Scientific and Technical Information of China (English)

    Laurence M. Boon

    2005-01-01

    Venous malformations (VMs) are problematic common vascular malformations that are challenging even for experienced physicians. Several treatments are available including sclerotherapy, surgery, laser or combinations of these procedures. As none of these is specific, we still need therapies that would allow to cure these patients without complications. Hopefully, the unraveling of the causative defects of VMs will give us new tools for the management of this difficult condition.

  6. Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations.

    NARCIS (Netherlands)

    Wijers, C.H.W.; Blaauw, I. de; Marcelis, C.L.M.; Wijnen, R.M.H.; Brunner, H.G.; Midrio, P.; Gamba, P.; Clementi, M.; Jenetzky, E.; Zwink, N.; Reutter, H.; Bartels, E.; Grasshoff-Derr, S.; Holland-Cunz, S.; Hosie, S.; Marzheuser, S.; Schmiedeke, E.; Cretolle, C.; Sarnacki, S.; Levitt, M.A.; Knoers, N.V.A.M.; Roeleveld, N.; Rooij, I.A.L.M. van

    2010-01-01

    PURPOSE: The recently established International Consortium on Anorectal Malformations aims to identify genetic and environmental risk factors in the etiology of syndromic and nonsyndromic anorectal malformations (ARM) by promoting collaboration through data sharing and combined research activities.

  7. Research perspectives in the etiology of congenital anorectal malformations using data of the International Consortium on Anorectal Malformations: evidence for risk factors across different populations

    NARCIS (Netherlands)

    C.H.W. Wijers (Charlotte); I. de Blaauw (Ivo); C.L.M. Marcellis; R.M.H. Wijnen (René); H. Brunner (Han); P. Midrio (Paola); P. Gamba (Piergiorgio); M. Clementi (Maurizio); E. Jenetzky (Ekkehart); N. Zwink (Nadine); H. Reutter (Heiko); E. Bartels (Enrika); S. Grasshoff-Derr (Sabine); S. Holland-Cunz (Stefan); S. Hosie (Stuart); S. Märzheuser (Stefanie); E. Schmiedeke (Eberhard); C. Crétolle (Célia); S. Sarnacki (Sabine); M.A. Levitt (Marc); N.V.A.M. Knoers (Nine); N. Roeleveld (Nel); I.A.L.M. Rooij (Iris)

    2010-01-01

    textabstractPurpose: The recently established International Consortium on Anorectal Malformations aims to identify genetic and environmental risk factors in the etiology of syndromic and nonsyndromic anorectal malformations (ARM) by promoting collaboration through data sharing and combined research

  8. Sincipital Encephaloceles: A Study of Associated Brain Malformations

    Directory of Open Access Journals (Sweden)

    Shashidhar Vedavyas Achar

    2016-01-01

    Full Text Available Objective: The aim of this study was to evaluate the associated intracranial malformations in patients with sincipital encephaloceles. Materials and Methods: A hospital-based cross-sectional study was conducted over 8 years from June 2007 to May 2015 on 28 patients. The patients were evaluated by either computed tomography or magnetic resonance imaging whichever was feasible. Encephaloceles were described with respect to their types, contents, and extensions. A note was made on the associated malformations with sincipital encephaloceles. Results: Fifty percent of the patients presented before the age of 3 years and both the sexes were affected equally. Nasofrontal encephalocele was the most common type seen in 13 patients (46.4%, and corpus callosal agenesis (12 patients was the most common associated malformation. Other malformations noted were arachnoid cyst (10 patients, hydrocephalus (7 patients, and agyria-pachygyria complex (2 patients. Conclusion: Capital Brain malformations are frequently encountered in children with sincipital encephaloceles. Detail radiological evaluation is necessary to plan treatment and also to prognosticate such rare malformations.

  9. Diffusion tensor imaging of midline posterior fossa malformations

    Energy Technology Data Exchange (ETDEWEB)

    Widjaja, Elysa; Blaser, Susan; Raybaud, Charles [Hospital for Sick Children, Diagnostic Imaging, Toronto, ON M5G 1X8 (Canada)

    2006-06-15

    Diffusion tensor imaging and tractography have been used to evaluate a variety of brain malformations. However, these studies have focused mainly on malformations involving the supratentorial compartments. There is a paucity of data on diffusion tensor imaging of posterior fossa malformations. To describe the color vector maps and modified or abnormal tracts of midline posterior fossa malformations. Diffusion tensor imaging was performed in one patient with rhombencephalosynapsis and two with Joubert syndrome. Color vector maps of fractional anisotropy were used to place a region of interest for seed point of fiber tracking. The vermis was severely hypoplastic or absent in rhombencephalosynapsis and Joubert syndrome. In rhombencephalosynapsis, vertically oriented fibers were visualized in the midportion of the cerebellum. The location of the deep cerebellar nuclei could be inferred from the amiculum and were medially located in rhombencephalosynapsis. In the two patients with Joubert syndrome, the horizontally arranged superior cerebellar peduncles were well demonstrated on the color vector maps. Failure of the superior cerebellar peduncles to decussate in the mesencephalon was also well demonstrated on both color vector maps and tractography. The deep cerebellar nuclei were more laterally located in Joubert syndrome. The use of tractography in midline posterior fossa malformations expands our understanding of these malformations. (orig.)

  10. Socio- Cultural Variables Of Congenital Malformation In Newborns

    Directory of Open Access Journals (Sweden)

    Khan Zulfia

    1997-01-01

    Full Text Available Research question: Is there an association between common socio â€" cultural variables and congenital malformation? Objectives: To determine the rate of congenital malformation at birth in hospital deliveries and its association with socio- cultural factors. Study design : Cross- sectional. Setting: J.N. Medical College Hospital and Mohanlal Gautam Rajkiya Hahila Chikitsalaya (District hospital, Aligarh. Participants: All newborn babies (including still births delivered in the two hospitals and their mothers. Study variables: Social class, religion, consanguinity of marriage, age of mother, parity, urban rural status, history of viral illness, drug intake and tobacco use during pregnancy. Outcome variables: Congenital malformations at birth. Statistical analysis: Chi- square test. Results: The overall prevalence of congenital malformations was 2.8%, being 1.6% in live births and 15.6% in stillbirths. Social class, consanguinity of marriage, parity, urban or rural status and history of viral illness during pregnancy were significantly associated with the date of congenital malformation. Conclusion: Certain socio- cultural factors are associated with congenital malformations and can be used in screening during ante- natal period.

  11. Update on neuroimaging phenotypes of mid-hindbrain malformations

    Energy Technology Data Exchange (ETDEWEB)

    Jissendi-Tchofo, Patrice [University Hospital of Lille (CHRU), Department of Neuroradiology, MRI 3T Research, Plateforme Imagerie du vivant, IMPRT-IFR 114, Lille-Cedex (France); CHU Saint-Pierre, Radiology Department, Pediatric Neuroradiology Section, Brussels (Belgium); Severino, Mariasavina [Istituto Giannina Gaslini, Neuroradiology Unit, Genoa (Italy); Nguema-Edzang, Beatrice; Toure, Cisse; Soto Ares, Gustavo [University Hospital of Lille (CHRU), Department of Neuroradiology, MRI 3T Research, Plateforme Imagerie du vivant, IMPRT-IFR 114, Lille-Cedex (France); Barkovich, Anthony James [University of California, Neuroradiology Section, Department of Radiology and Biomedical Imaging, San Francisco, CA (United States)

    2014-10-23

    Neuroimaging techniques including structural magnetic resonance imaging (MRI) and functional positron emission tomography (PET) are useful in categorizing various midbrain-hindbrain (MHB) malformations, both in allowing diagnosis and in helping to understand the developmental processes that were disturbed. Brain imaging phenotypes of numerous malformations are characteristic features that help in guiding the genetic testing in case of direct neuroimaging-genotype correlation or, at least, to differentiate among MHB malformations entities. The present review aims to provide the reader with an update of the use of neuroimaging applications in the fine analysis of MHB malformations, using a comprehensive, recently proposed developmental and genetic classification. We have performed an extensive systematic review of the literature, from the embryology main steps of MHB development through the malformations entities, with regard to their molecular and genetic basis, conventional MRI features, and other neuroimaging characteristics. We discuss disorders in which imaging features are distinctive and how these features reflect the structural and functional impairment of the brain. Recognition of specific MRI phenotypes, including advanced imaging features, is useful to recognize the MHB malformation entities, to suggest genetic investigations, and, eventually, to monitor the disease outcome after supportive therapies. (orig.)

  12. Sports participation with Chiari I malformation.

    Science.gov (United States)

    Strahle, Jennifer; Geh, Ndi; Selzer, Béla J; Bower, Regina; Himedan, Mai; Strahle, MaryKathryn; Wetjen, Nicholas M; Muraszko, Karin M; Garton, Hugh J L; Maher, Cormac O

    2016-04-01

    OBJECT There is currently no consensus on the safety of sports participation for patients with Chiari I malformation (CM-I). The authors' goal was to define the risk of sports participation for children with the imaging finding of CM-I. METHODS A prospective survey was administered to 503 CM-I patients at 2 sites over a 46-month period. Data were gathered on imaging characteristics, treatment, sports participation, and any sport-related injuries. Additionally, 81 patients completed at least 1 subsequent survey following their initial entry into the registry and were included in a prospective group, with a mean prospective follow-up period of 11 months. RESULTS Of the 503 CM-I patients, 328 participated in sports for a cumulative duration of 4641 seasons; 205 of these patients participated in contact sports. There were no serious or catastrophic neurological injuries. One patient had temporary extremity paresthesias that resolved within hours, and this was not definitely considered to be related to the CM-I. In the prospective cohort, there were no permanent neurological injuries. CONCLUSIONS No permanent or catastrophic neurological injuries were observed in CM-I patients participating in athletic activities. The authors believe that the risk of such injuries is low and that, in most cases, sports participation by children with CM-I is safe.

  13. Psychosocial adjustment and craniofacial malformations in childhood.

    Science.gov (United States)

    Pertschuk, M J; Whitaker, L A

    1985-02-01

    Forty-three children between the ages of 6 and 13 years with congenital facial anomalies underwent psychosocial evaluation prior to surgery. Also evaluated were healthy children matched to the craniofacial subjects by sex, age, intelligence, and economic background. Relative to this comparison group, the craniofacial children were found to have poorer self-concept, greater anxiety at the time of evaluation, and more introversion. Parents of the craniofacial children noted more frequent negative social encounters for their children and more hyperactive behavior at home. Teachers reported more problematic classroom behavior. Examination of these results revealed craniofacial malformations to be associated with psychosocial limitations rather than marked deficits. These children tended to function less well than the comparison children, but with few exceptions, they were not functioning in a psychosocially deviant range. Explanations for the observed circumscribed impact of facial deformity include the use of denial as a coping mechanism, possible diminished significance of appearance for younger children, and the restricted environment experienced by most of the subjects. It can be predicted that time would render these protective influences ineffective, so that adolescent and young adult patients could be at far greater psychosocial risk.

  14. Diagnosis and evaluation of intracranial arteriovenous malformations

    Science.gov (United States)

    Conger, Andrew; Kulwin, Charles; Lawton, Michael T.; Cohen-Gadol, Aaron A.

    2015-01-01

    Background: Ideal management of intracranial arteriovenous malformations (AVMs) remains poorly defined. Decisions regarding management of AVMs are based on the expected natural history of the lesion and risk prediction for peritreatment morbidity. Microsurgical resection, stereotactic radiosurgery, and endovascular embolization alone or in combination are all viable treatment options, each with different risks. The authors attempt to clarify the existing literature's understanding of the natural history of intracranial AVMs, and risk-assessment grading scales for each of the three treatment modalities. Methods: The authors conducted a literature review of the existing AVM natural history studies and studies that clarify the utility of existing grading scales available for the assessment of peritreatment risk for all three treatment modalities. Results: The authors systematically outline the diagnosis and evaluation of patients with intracranial AVMs and clarify estimation of the expected natural history and predicted risk of treatment for intracranial AVMs. Conclusion: AVMs are a heterogenous pathology with three different options for treatment. Accurate assessment of risk of observation and risk of treatment is essential for achieving the best outcome for each patient. PMID:25984390

  15. Vascular permeability in cerebral cavernous malformations.

    Science.gov (United States)

    Mikati, Abdul G; Khanna, Omaditya; Zhang, Lingjiao; Girard, Romuald; Shenkar, Robert; Guo, Xiaodong; Shah, Akash; Larsson, Henrik B W; Tan, Huan; Li, Luying; Wishnoff, Matthew S; Shi, Changbin; Christoforidis, Gregory A; Awad, Issam A

    2015-10-01

    Patients with the familial form of cerebral cavernous malformations (CCMs) are haploinsufficient for the CCM1, CCM2, or CCM3 gene. Loss of corresponding CCM proteins increases RhoA kinase-mediated endothelial permeability in vitro, and in mouse brains in vivo. A prospective case-controlled observational study investigated whether the brains of human subjects with familial CCM show vascular hyperpermeability by dynamic contrast-enhanced quantitative perfusion magnetic resonance imaging, in comparison with CCM cases without familial disease, and whether lesional or brain vascular permeability correlates with CCM disease activity. Permeability in white matter far (WMF) from lesions was significantly greater in familial than in sporadic cases, but was similar in CCM lesions. Permeability in WMF increased with age in sporadic patients, but not in familial cases. Patients with more aggressive familial CCM disease had greater WMF permeability compared to those with milder disease phenotype, but similar lesion permeability. Subjects receiving statin medications for routine cardiovascular indications had a trend of lower WMF, but not lesion, permeability. This is the first demonstration of brain vascular hyperpermeability in humans with an autosomal dominant disease, as predicted mechanistically. Brain permeability, more than lesion permeability, may serve as a biomarker of CCM disease activity, and help calibrate potential drug therapy.

  16. Pulmonary arteriovenous malformation in cryptogenic liver cirrhosis.

    Science.gov (United States)

    Afzal, Noureen; Akhtar, Saleem; Ahmed, Shakeel; Atiq, Mehnaz

    2013-09-01

    The cause in 10 - 20% cases of liver cirrhosis (LC) cannot be elucidated, and are thus termed cryptogenic. Pulmonary arteriovenous malformations (PAVMs) are relatively rare, but the most common anomaly involving the pulmonary tree. Although the rare correlation between LC and PAVM is well-known, there have been no reports of PAVMs occurring in cryptogenic LC. We report a case of PAVM that occurred in cryptogenic liver cirrhosis in a 3 years old male child. The child presented with complaints of malena, hematemesis and variceal bleed. The examination revealed a child with respiratory distress, irritability, tachycardia, clubbing and abdominal distention. He was worked up for recurrent variceal bleeding secondary to portal hypertension but the oxygen saturation during hospital stay kept deteriorating. The diagnosis of hepatopulmonary syndrome as the cause of persistent hypoxemia in the absence of other cardio-pulmonary causes was then made by enhanced echocardiogram using agitated saline. He improved significantly after liver transplantation performed abroad. At a 6 months follow-up, the child was stable with no evidence of intrapulmonary shunting on repeat echo.

  17. Gross congenital malformation at birth in a government hospital

    Directory of Open Access Journals (Sweden)

    Sandeep Sachdeva

    2014-01-01

    Full Text Available A hospital-based cross-sectional study was undertaken to determine proportion of gross congenital malformation (GCMF occurring at intramural births. Rate of GCMF was found to be 16.4/1000 consecutive singleton births (>28 weeks with three leading malformation as anencephaly (44.68%, talipes equinovarus (17.02% and meningomyelocele (10.63%. Higher risk of malformed births were noticed amongst un-booked (2.07% in-comparison to booked (1.01% mothers; women with low level of education (up to 8 years [2.14%] vs. at least 9 years of schooling [0.82%]; gravida status of at least 3 (2.69% followed by 1 (1.43% and 2 (1.0% respectively; pre-term (5.13% vs. term (0.66%; cesarean section (4.36% versus vaginal delivery (0.62%. Mortality was significantly higher among congenitally malformed (17.35% than normal (0.34% newborns. With-in study limitation, emergence of neural tube defect as the single largest category of congenital malformation indicates maternal malnutrition (especially folic acid that needs appropriate attention and management.

  18. Local Model of Arteriovenous Malformation of the Human Brain

    Science.gov (United States)

    Nadezhda Telegina, Ms; Aleksandr Chupakhin, Mr; Aleksandr Cherevko, Mr

    2013-02-01

    Vascular diseases of the human brain are one of the reasons of deaths and people's incapacitation not only in Russia, but also in the world. The danger of an arteriovenous malformation (AVM) is in premature rupture of pathological vessels of an AVM which may cause haemorrhage. Long-term prognosis without surgical treatment is unfavorable. The reduced impact method of AVM treatment is embolization of a malformation which often results in complete obliteration of an AVM. Pre-surgical mathematical modeling of an arteriovenous malformation can help surgeons with an optimal sequence of the operation. During investigations, the simple mathematical model of arteriovenous malformation is developed and calculated, and stationary and non-stationary processes of its embolization are considered. Various sequences of embolization of a malformation are also considered. Calculations were done with approximate steady flow on the basis of balanced equations derived from conservation laws. Depending on pressure difference, a fistula-type AVM should be embolized at first, and then small racemose AVMs are embolized. Obtained results are in good correspondence with neurosurgical AVM practice.

  19. Pathobiology of human cerebrovascular malformations: basic mechanisms and clinical relevance.

    Science.gov (United States)

    Gault, Judith; Sarin, Hemant; Awadallah, Nabil A; Shenkar, Robert; Awad, Issam A

    2004-07-01

    Cerebrovascular malformations affect more than 3% of the population, exposing them to a lifetime risk of hemorrhagic stroke, seizures, and focal neurological deficits. Cerebral cavernous malformations (CCMs) exhibit an immature vessel wall, a brittle hemorrhagic tendency, and epileptogenesis, whereas arteriovenous malformations (AVMs) lack capillary beds and manifest apoplectic bleeding under high-flow conditions. There are also more benign venous anomalies, capillary malformations, and lesions with mixed and transitional features. Advances have been made toward understanding the natural history, radiological and pathological correlates, and clinical management. Yet, mechanisms of lesion genesis and clinical manifestations remain largely unknown, and the clinical behavior in individual patients is highly unpredictable. Lesion pathogenesis likely involves abnormal assembly or maintenance of blood vessels, resulting in dysmorphic vessel phenotypes. Familial CCM disease is in part caused by mutations in a cytoskeletal-related protein that is likely integral to interendothelial cell connectivity and maturation of the vascular wall. Rare familial forms of AVM disease have been correlated with two different transforming growth factor-beta receptor components, possibly causing disturbance in signaling during vascular assembly. Relevance of these mechanisms to the more common and otherwise identical sporadic CCM and AVM lesions is being explored. In this report, basic mechanisms of vasculogenesis and angiogenesis and how they possibly relate to the common cerebrovascular malformation lesions are reviewed. Novel concepts are discussed related to the cellular, molecular, and genetic substrates in CCM and AVM as well as to how this knowledge can be applied to predict, explain, and possibly modify clinical disease manifestations.

  20. Thoracic skeletal defects and cardiac malformations: a common epigenetic link?

    Science.gov (United States)

    Weston, Andrea D; Ozolins, Terence R S; Brown, Nigel A

    2006-12-01

    Congenital heart defects (CHDs) are the most common birth defects in humans. In addition, cardiac malformations represent the most frequently identified anomaly in teratogenicity experiments with laboratory animals. To explore the mechanisms of these drug-induced defects, we developed a model in which pregnant rats are treated with dimethadione, resulting in a high incidence of heart malformations. Interestingly, these heart defects were accompanied by thoracic skeletal malformations (cleft sternum, fused ribs, extra or missing ribs, and/or wavy ribs), which are characteristic of anterior-posterior (A/P) homeotic transformations and/or disruptions at one or more stages in somite development. A review of other teratogenicity studies suggests that the co-occurrence of these two disparate malformations is not unique to dimethadione, rather it may be a more general phenomenon caused by various structurally unrelated agents. The coexistence of cardiac and thoracic skeletal malformations has also presented clinically, suggesting a mechanistic link between cardiogenesis and skeletal development. Evidence from genetically modified mice reveals that several genes are common to heart development and to formation of the axial skeleton. Some of these genes are important in regulating chromatin architecture, while others are tightly controlled by chromatin-modifying proteins. This review focuses on the role of these epigenetic factors in development of the heart and axial skeleton, and examines the hypothesis that posttranslational modifications of core histones may be altered by some developmental toxicants.

  1. Coexistence of a single cerebral arteriovenous malformation and spinal arteriovenous malformation

    Directory of Open Access Journals (Sweden)

    Wang Yabing

    2009-01-01

    Full Text Available The coexistence of a cerebral and a spinal arteriovenous malformation (AVM together is extremely rare. We present a 31-year-old woman, who suffered from severe root pains in the left upper extremity. Magnetic resonance imaging (MRI revealed the abnormal vessels in the left occipital lobe and upper cervical segment of spinal cord. Cerebral angiography and spinal angiogram revealed two AVMs: One was in the right occipital lobe and the other was located in the C1-C2 segments of cervical cord. She had no other vascular lesions, and nor did her other family members. As the primary problem in her was left upper extremity root pains, which we considered was related to the spinal AVM, the first therapeutic treatment was focused on spinal AVM. The cerebral AVM of the right occipital lobe was surgically resected after part embolization.

  2. Electroencephalography in congenital malformations of the central nervous system

    Directory of Open Access Journals (Sweden)

    Patrícia Campos

    1994-12-01

    Full Text Available We studied clinical and EEG features of 36 cases with congenital malformations of the CNS. Patients were followed at the outpatient clinic of Hospital Cayetano Heredia and of Hogar Clinica San Juan de Dios in Lima-Peru, from January 1984 to June 1992. Eighty percent of the patients had convulsive syndromes and mental retardation. The most frequent malformation was agenesis of corpus callosum, and it was not possible to find a "typical" EEG pattern. The second were porencephalic cysts, with a good clinical-EEG correlation. There were two typical cases of schizencephaly, one of hemimegalencephaly with good prognosis, and one of holoprosencephaly. The results are compared to those obtained for a series we previously reported. Data discussed take into account reports on the subject registered in the literature. It is concluded that EEG is an useful method to evaluate possible CNS malformations in developing countries.

  3. Genetic causes of congenital brain malformations in epilepsy patients

    DEFF Research Database (Denmark)

    Møller, Rikke Steensbjerre

    2008-01-01

    The search for genetic causes of congenital brain malformations, severe epilepsy and mental retardation plays an important role in neuropediatrics and neurology. Disclosure of the aetiology of the intellectual disabilities, seizures and the underlying brain malformation may be of psychological...... value for the family, and it is essential for proper genetic counselling. The human brain is one of the most complex structures known, and probably many of the 25.000- 30.000 genes that comprise the human genome are involved in its development, which means that thousands of genes could be candidate...... genes for developmental brain defects. The overall aim of the present study has been to identify new candidate genes or predisposing factors involved in congenital brain malformations in epilepsy patients....

  4. Spectrum of bronchopulmonary anomalies associated with tracheoesophageal malformations

    Energy Technology Data Exchange (ETDEWEB)

    Benson, J.E.; Fletcher, B.D.; Olsen, M.

    1985-09-01

    The combination of tracheoesophageal and pulmonary malformations is unusual and reportedly carries a high mortality. We have observed six patients with esophageal atresia and tracheoesophageal fistula and one with a bronchoesophageal fistula who had associated bronchopulmonary anomalies ranging from lobar hypoplasia and agenesis to unilateral pulmonary hypoplasia or agenesis. All of the pulmonary malformations were right-sided. Vertebral or rib anomalies were present in five patients, congenital heart disease in two, imperforate anus in one and one patient had radial aplasia and Pierre Robin syndrome. The bronchopulmonary anomalies complicated the surgical care of tracheoesophageal malformations and required radiologic differentiation from aspiration pneumonia and atelectasis. Six of the seven patients survived. Mortality and morbidity were related to complications and associated cardiac anomalies as well as severity of the lung anomaly.

  5. Hypersexuality from resection of left occipital arteriovenous malformation.

    Science.gov (United States)

    Cao, Yong; Zhu, Zhaohui; Wang, Rong; Wang, Shuo; Zhao, Jizong

    2010-01-01

    The authors report their experience on one patient with hypersexuality from resection of left occipital arteriovenous malformation. To the best of our knowledge, this is the first case reported in the literature. A 35-year-old right-handed female farmer suffered a sudden left occipital hemorrhage with subarachnoid and subdural hemorrhages of the left hemisphere. Transient left uncal herniation occurred at the onset and was released by conservative treatment. Digital subtraction angiography showed a brain left occipital arteriovenous malformation. After microsurgical resection of the arteriovenous malformation, the patient developed hypersexual behavior. Positron emission tomography showed hypermetabolism in the left frontal region and left posterior hippocampal gyrus and hypometabolism in the left anterior hippocampal gyrus and the left occipital surgical area. Theories concerning normal pressure perfusion breakthrough and specific areas in the brain responsible for the human sexual response are discussed.

  6. Genes and brain malformations associated with abnormal neuron positioning.

    Science.gov (United States)

    Moffat, Jeffrey J; Ka, Minhan; Jung, Eui-Man; Kim, Woo-Yang

    2015-11-05

    Neuronal positioning is a fundamental process during brain development. Abnormalities in this process cause several types of brain malformations and are linked to neurodevelopmental disorders such as autism, intellectual disability, epilepsy, and schizophrenia. Little is known about the pathogenesis of developmental brain malformations associated with abnormal neuron positioning, which has hindered research into potential treatments. However, recent advances in neurogenetics provide clues to the pathogenesis of aberrant neuronal positioning by identifying causative genes. This may help us form a foundation upon which therapeutic tools can be developed. In this review, we first provide a brief overview of neural development and migration, as they relate to defects in neuronal positioning. We then discuss recent progress in identifying genes and brain malformations associated with aberrant neuronal positioning during human brain development.

  7. Revision Stapedectomy in a Female Patient with Inner Ear Malformation

    Directory of Open Access Journals (Sweden)

    Tirth R. Patel

    2016-01-01

    Full Text Available Objectives. We describe an unusual case of surgical management of congenital mixed hearing loss in a female patient with inner ear malformation. This report outlines the role of temporal bone imaging and previous surgical history in evaluating a patient’s risk of perilymph gusher during stapes surgery. Methods. A 68-year-old female patient with a history of profound bilateral mixed hearing loss due to ossicular and cochlear malformation presented to our otology clinic. She had undergone multiple unsuccessful previous ear surgeries. Computed tomography revealed bilateral inner ear malformations. She elected to proceed with revision stapedectomy. Results. The patient received modest benefit to hearing, and no operative complications occurred. Conclusions. Although stapedectomy has been shown to improve hearing in patients with stapes fixation, there is risk of perilymph gusher in patients with inner ear abnormalities. Evaluation and counseling of the risk of gusher during stapes surgery should be done on a case-by-case basis.

  8. DANDY-WALKER MALFORMATION: A RARE CONGENITAL ANOMALY

    Directory of Open Access Journals (Sweden)

    Uroos

    2014-08-01

    Full Text Available Dandy Walker Malformation (DWM is a congenital malformation involving the cerebellum and fluid filled spaces around it. A key feature of this syndrome is partial or complete absence of a part of brain located between two cerebellar hemispheres ie. cerebellar vermis.(1 Dandy walker malformation was originally described in 1887 by Sutton and further characterized by Dandy and Blackfan in 1914 followed by Tagart and Walker in 1942. Benda finally labeled this disease as Dandy Walker in 1954. (2 Since the original description, additional studies have reported on various morphological features of this syndrome. It is a genetically sporadic disorder that occurs one in every 30,000live births. (3 Because of its rarity, here we report a case of DWM, in a fetus in which the diagnosis was made prenatally on USG. Later on, MTP was done by expulsion. Fetus was sent for autopsy to rule out other associated congenital abnormalities

  9. Fistulectomy as a surgical option for pulmonary arteriovenous malformation

    Institute of Scientific and Technical Information of China (English)

    ZHANG Shao-yan; ZHANG Zhi-tai; OU Song-lei; HU Yan-sheng; SONG Fei-qiang; LI Xin; MA Xu-chen; MA Xin-xin; LIANG Lin; LI Dong; GUO Lin; SUN Zhen

    2009-01-01

    Background Surgical resection remains the treatment of choice for pulmonary arteriovenous malformation but removes some normal lung parenchyma. This study aimed to evaluate the effect and safety of the lung-saving procedure of fistulectomy as an alternative to lung resection.Methods From July 2003 to July 2008, 6 selected patients with pulmonary arteriovenous malformations underwent fistulectomies. Among them, 1 patient underwent emergency operation and 2 underwent bilateral operations. One patient received postoperative embolotherapy.Results No hospital deaths or postoperative morbidity occurred. PaO_2 increased significantly after operation. All patients were free of symptoms and hypoxia during a follow-up for 9 months to 5 years.Conclusions Fistulectomy is a safe and effective procedure for patients with pulmonary arteriovenous malformation and may be an alternative to lung resection.

  10. Bleeding risk of intracranial vascular malformations; Das Risiko intrazerebraler Gefaessmissbildungen

    Energy Technology Data Exchange (ETDEWEB)

    Wanke, I.; Panagiotopoulos, V.; Forsting, M. [Universitaetsklinikum Essen, Inst. fuer diagnostische und interventionelle Radiologie und Neuroradiologie (Germany)

    2007-04-15

    In general, intracranial vascular malformations are divided into pial AVM, dural AV fistula, cavernoma and capillary telangiectasias. Developmental venous anomalies are sometimes thought to be vascular malformations. In fact, they are just a variant of venous drainage. In general, pial AVMs have a high risk of intracerebral bleeding. In dural AV fistulas, the individual bleeding risk can be effectively estimated by analyzing the venous drainage. Cavernomas have a low bleeding risk and the bleeding is rarely life-threatening. DVAs do not have any bleeding risk but 30 % are associated with cavernomas. Capillary telangiectasias also have no bleeding risk. Therefore, a radiological finding of an intracranial vascular malformation should not automatically elicit the reaction ''time bomb in your head with a bleeding risk'' but should be subjected to an analysis of the bleeding risk for the individual patient.

  11. Anorectal\tMalformation: Paediatric Problem Presenting in Adult

    Directory of Open Access Journals (Sweden)

    Rahulkumar N. Chavan

    2015-01-01

    Full Text Available This is a case report of 22-year-old girl admitted with abdominal distension, vomiting, and chronic constipation since birth. Abdomen was distended, and perineal examination revealed imperforate anus with vestibular fistula (ARM. So far worldwide very few cases have been reported about anorectal malformation presenting in adulthood, and thus extremely little data is available in the literature about an ideal management of anorectal malformation in adults. In our case in the treatment instead of conventional procedure of posterior sagittal anorectoplasty (PSARP anal transposition was done and till two years after the definitive treatment during follow-up patient has been doing well with Kelly’s score of six. Our experience suggests that anal transposition provides satisfactory outcome in adults presenting late with anorectal malformation.

  12. Models of cortical malformation--Chemical and physical.

    Science.gov (United States)

    Luhmann, Heiko J

    2016-02-15

    Pharmaco-resistant epilepsies, and also some neuropsychiatric disorders, are often associated with malformations in hippocampal and neocortical structures. The mechanisms leading to these cortical malformations causing an imbalance between the excitatory and inhibitory system are largely unknown. Animal models using chemical or physical manipulations reproduce different human pathologies by interfering with cell generation and neuronal migration. The model of in utero injection of methylazoxymethanol (MAM) acetate mimics periventricular nodular heterotopia. The freeze lesion model reproduces (poly)microgyria, focal heterotopia and schizencephaly. The in utero irradiation model causes microgyria and heterotopia. Intraperitoneal injections of carmustine 1-3-bis-chloroethyl-nitrosurea (BCNU) to pregnant rats produces laminar disorganization, heterotopias and cytomegalic neurons. The ibotenic acid model induces focal cortical malformations, which resemble human microgyria and ulegyria. Cortical dysplasia can be also observed following prenatal exposure to ethanol, cocaine or antiepileptic drugs. All these models of cortical malformations are characterized by a pronounced hyperexcitability, few of them also produce spontaneous epileptic seizures. This dysfunction results from an impairment in GABAergic inhibition and/or an increase in glutamatergic synaptic transmission. The cortical region initiating or contributing to this hyperexcitability may not necessarily correspond to the site of the focal malformation. In some models wide-spread molecular and functional changes can be observed in remote regions of the brain, where they cause pathophysiological activities. This paper gives an overview on different animal models of cortical malformations, which are mostly used in rodents and which mimic the pathology and to some extent the pathophysiology of neuronal migration disorders associated with epilepsy in humans.

  13. Berry syndrome in association with familial limb malformation.

    LENUS (Irish Health Repository)

    Shahdadpuri, R

    2012-02-01

    We describe a newborn boy diagnosed with Berry syndrome consisting of a distal aortopulmonary septal defect, aortic origin of the right pulmonary artery, and interruption of the aorta. The child was noted to have reduplication of the right thumb. The child\\'s mother had a claw malformation of her left hand but a normal cardiovascular status. Genetic analysis for TBX5 and SALL4 mutations were negative in both the patient and his mother. This case describes the first ever report of Berry syndrome in an infant with reduplication of the right thumb and familial limb malformation.

  14. [Macro- and microscopic systematization of cerebral cortex malformations in children].

    Science.gov (United States)

    Milovanov, A P; Milovanova, O A

    2011-01-01

    For the first time in pediatric pathologicoanatomic practice the complete systematization of cerebral cortex malformations is represented. Organ, macroscopic forms: microencephaly, macroencephaly, micropolygyria, pachygyria, schizencephaly, porencephaly, lissencephaly. Histic microdysgenesis of cortex: type I includes isolated abnormalities such as radial (IA) and tangential (I B) subtypes of cortical dislamination; type II includes sublocal cortical dislamination with immature dysmorphic neurons (II A) and balloon cells (II B); type III are the combination focal cortical dysplasia with tuberous sclerosis of the hippocampus (III A), tumors (III B) and malformations of vessels, traumatic and hypoxic disorders (III C). Band heterotopias. Subependimal nodular heterotopias. Tuberous sclerosis. Cellular typification of cortical dysplasia: immature neurons and balloon cells.

  15. Diffusion tensor imaging and fiber tractography in brain malformations.

    Science.gov (United States)

    Poretti, Andrea; Meoded, Avner; Rossi, Andrea; Raybaud, Charles; Huisman, Thierry A G M

    2013-01-01

    Diffusion tensor imaging (DTI) is an advanced MR technique that provides qualitative and quantitative information about the micro-architecture of white matter. DTI and its post-processing tool fiber tractography (FT) have been increasingly used in the last decade to investigate the microstructural neuroarchitecture of brain malformations. This article aims to review the use of DTI and FT in the evaluation of a variety of common, well-described brain malformations, in particular by pointing out the additional information that DTI and FT renders compared with conventional MR sequences. In addition, the relevant existing literature is summarized.

  16. Diffusion tensor imaging for brain malformations: does it help?

    Science.gov (United States)

    Huisman, Thierry A G M; Bosemani, Thangamadhan; Poretti, Andrea

    2014-11-01

    In this article, the basics of diffusion-weighted imaging/diffusion tensor imaging (DTI) are discussed, including a short historical perspective on the fiber dissection technique, followed by a review of selected brain malformations in which DTI and tractography have contributed to a better understanding of the malformations, and by a clinical case in which DTI showed a disorder of the internal neuroarchitecture that could not be correctly appreciated by conventional anatomic magnetic resonance imaging. Copyright © 2014 Elsevier Inc. All rights reserved.

  17. Diffusion tensor imaging and fiber tractography in brain malformations

    Energy Technology Data Exchange (ETDEWEB)

    Poretti, Andrea; Meoded, Avner; Huisman, Thierry A.G.M. [The Johns Hopkins University School of Medicine, Division of Pediatric Radiology, The Russell H. Morgan Department of Radiology and Radiological Science, Baltimore, MD (United States); Rossi, Andrea [G. Gaslini Institue, Pediatric Neuroradiology, Genova (Italy); Raybaud, Charles [University of Toronto, Department of Neuroradiology, Hospital for Sick Children, Toronto, ON (Canada)

    2013-01-15

    Diffusion tensor imaging (DTI) is an advanced MR technique that provides qualitative and quantitative information about the micro-architecture of white matter. DTI and its post-processing tool fiber tractography (FT) have been increasingly used in the last decade to investigate the microstructural neuroarchitecture of brain malformations. This article aims to review the use of DTI and FT in the evaluation of a variety of common, well-described brain malformations, in particular by pointing out the additional information that DTI and FT renders compared with conventional MR sequences. In addition, the relevant existing literature is summarized. (orig.)

  18. Two Cases of Arnold-Chiari Malformation with Respiratory Failure

    Directory of Open Access Journals (Sweden)

    Sinem Iliaz

    2014-03-01

    Full Text Available Arnold–Chiari malformation is defined as downward displacement of the brainstem and cerebellum through the foramen magnum. It has different clinical presentations and four subtypes. It is known that downward migration of posterior fossa components through the foramen magnum and associated lower cranial nerve palsy and brainstem compression can cause respiratory failure. Acute respiratory failure could mark the onset of the disease. Posterior fossa decompression performed to treat primary disease can improve the central sleep abnormalities. As respiratory failure is rarely seen, this paper presents two cases of Arnold–Chiari malformation with respiratory failure.

  19. Bilateral Cerebellar Cortical Dysplasia without Other Malformations: A Case Report

    Energy Technology Data Exchange (ETDEWEB)

    Oh, Jung Seok; Ahn Kook Jin; Kim, Jee Young; Lee, Sun Jin; Park, Jeong Mi [Catholic University Yeouido St. Mary' s Hospital, College of Medicine, Seoul (Korea, Republic of)

    2010-06-15

    Recent advances in MRI have revealed congenital brain malformations and subtle developmental abnormalities of the cerebral and cerebellar cortical architecture. Typical cerebellar cortical dysplasia as a newly categorized cerebellar malformation, has been seen in patients with Fukuyama congenital muscular dystrophy. Cerebellar cortical dysplasia occurs at the embryonic stage and is often observed in healthy newborns. It is also incidentally and initially detected in adults without symptoms. To the best of our knowledge, cerebellar dysplasia without any related disorders is very rare. We describe the MRI findings in one patient with disorganized foliation of both cerebellar hemispheres without a related disorder or syndrome

  20. Arteriovenous malformation within an isocitrate dehydrogenase 1 mutated anaplastic oligodendroglioma

    Directory of Open Access Journals (Sweden)

    Grace Lai

    2015-01-01

    Full Text Available Background: The co-occurrence of intracranial arteriovenous malformations (AVMs and cerebral neoplasms is exceedingly rare but may harbor implications pertaining to the molecular medicine of brain cancer pathogenesis. Case Description: Here, we present a case of de novo AVM within an isocitrate dehydrogenase 1 mutated anaplastic oligodendroglioma (WHO Grade III and review the potential contribution of this mutation to aberrant angiogenesis as an interesting case study in molecular medicine. Conclusion: The co-occurrence of an IDH1 mutated neoplasm and AVM supports the hypothesis that IDH1 mutations may contribute to aberrant angiogenesis and vascular malformation.

  1. Uncommon cavernous malformation of the optic chiasm: a case report

    Directory of Open Access Journals (Sweden)

    Ning Xianbin

    2012-08-01

    Full Text Available Abstract Cavernous malformation (CM is a vascular malformation disorder characterized by a berry-like mass of expanded blood vessels. CM, originating from the optic chiasm. usually leads to chiasma syndrome presenting with bitemporal hemianopsia. We report a 28-year-old male presenting with left homonymous hemianopsia. Magnetic resonance imaging (MRI revealed an occupied lesion located in the right side of the optic chiasm, and a clinical diagnosis of chiasmal CM was made. Microsurgical excision was performed via anterolateral pterional craniotomy. The patient showed good recovery with slight improvement of the visual field deficits after the operation. No CM recurrence was discovered during the follow-up MRI scans.

  2. Imaging features of ductal plate malformations in adults

    Energy Technology Data Exchange (ETDEWEB)

    Venkatanarasimha, N., E-mail: nandashettykv@yahoo.com [Department of Radiology, Derriford Hospital, Plymouth (United Kingdom); Thomas, R.; Armstrong, E.M.; Shirley, J.F.; Fox, B.M.; Jackson, S.A. [Department of Radiology, Derriford Hospital, Plymouth (United Kingdom)

    2011-11-15

    Ductal plate malformations, also known as fibrocystic liver diseases, are a group of congenital disorders resulting from abnormal embryogenesis of the biliary ductal system. The abnormalities include choledochal cyst, Caroli's disease and Caroli's syndrome, adult autosomal dominant polycystic liver disease, and biliary hamartoma. The hepatic lesions can be associated with renal anomalies such as autosomal recessive polycystic kidney disease (ARPKD), medullary sponge kidney, and nephronophthisis. A clear knowledge of the embryology and pathogenesis of the ductal plate is central to the understanding of the characteristic imaging appearances of these complex disorders. Accurate diagnosis of ductal plate malformations is important to direct appropriate clinical management and prevent misdiagnosis.

  3. Radiographic assessment of congenital malformations of the upper extremity

    Energy Technology Data Exchange (ETDEWEB)

    Winfeld, Matthew J. [Perelman School of Medicine at the University of Pennsylvania, Department of Radiology, Musculoskeletal Division, Penn Medicine University City, Philadelphia, PA (United States); Otero, Hansel [Children' s National Medical Center, Department of Radiology, Washington, DC (United States)

    2016-09-15

    Congenital and developmental malformations of the upper extremity are uncommon and their diagnosis can challenge radiologists. Many complex classification systems exist, the latest of which accounts for the complex embryology and pathogenetic mechanisms that govern the formation of these anomalies. Using appropriate descriptors allows for more specific diagnosis and improved consultation with referring pediatricians and surgeons, helping to guide medical and surgical interventions and, if indicated, further investigation for associated abnormalities and underlying syndromes. We review the imaging characteristics of upper limb malformations to help pediatric radiologists better understand the classification and workup necessary in these cases. (orig.)

  4. Split cervical spinal cord malformation and vertebral dysgenesis.

    Science.gov (United States)

    Andro, C; Pecquery, R; De Vries, P; Forlodou, P; Fenoll, B

    2009-11-01

    We report a case of vertebral malformation associated with diplomyelia believed to be a type II split cord malformation. Cervicothoracic level cases are exceptional. This article reports the case of an 11-year-old boy with no neurological symptoms who had not undergone surgery. The diagnosis was made during pregnancy by prenatal screening with ultrasound and MRI. Several embryological theories have been offered to provide an explanation for this syndrome. Close follow-up is mandatory. Surgery must only be considered if neurological deterioration occurs.

  5. Effectiveness of Sclerotherapy, Surgery, and Laser Therapy in Patients With Venous Malformations: A Systematic Review

    NARCIS (Netherlands)

    Vleuten, C.J.M. van der; Kater, A.; Wijnen, M.H.W.A.; Schultze Kool, L.J.; Rovers, M.M.

    2014-01-01

    Because the best possible treatment for venous malformations is unclear, this study systematically reviews the available literature regarding the effectiveness of different treatment options for the patient group. Venous malformations result from incorrect development of the veins during embryogenes

  6. Diffusion-weighted imaging in fetuses with unilateral cortical malformations and callosal agenesis.

    Science.gov (United States)

    Glenn, O A; Quiroz, E M; Berman, J I; Studholme, C; Xu, D

    2010-06-01

    DWI was performed in fetuses with callosal agenesis and unilateral cortical malformations. ADC values were retrospectively measured in the developing white matter underlying the cortical malformation and compared with the corresponding contralateral white matter. In all 3 patients, ADC values were lower under the areas of cortical malformation compared with the normal contralateral side. Our findings suggest that there are structural differences in the developing white matter underlying areas of cortical malformation.

  7. Chiari type 1 malformation in a pseudotumour cerebri patient: is it an acquired or congenital Chiari malformation?

    Science.gov (United States)

    Istek, Seref

    2014-06-04

    Chiari malformation type 1 (CM1) is a developmental abnormality of the cerebellar tonsils. Patients with CM1 commonly present with headache. Papilloedema is rarely seen in CM1. However, a 52-year-old woman presented to the hospital with a headache and her ophthalmological examination revealed bilateral papilloedema. Her cranial MRI was compatible with borderline CM1. Bilateral papilloedema and headache suggested idiopathic intracranial hypertension (IIH) as the preliminary diagnosis. IIH is a rare case in CM1. This article argues about this association and discusses as to whether it is an acquired or congenital Chiari malformation.

  8. Interobserver reliability and diagnostic performance of Chiari II malformation measures in MR imaging-part 2

    NARCIS (Netherlands)

    Geerdink, Niels; van der Vliet, Ton; Rotteveel, Jan J.; Feuth, Ton; Roeleveld, Nel; Mullaart, Reinier A.

    2012-01-01

    Brain MR imaging is essential in the assessment of Chiari II malformation in clinical and research settings concerning spina bifida. However, the interpretation of MR images of the malformation is not always straightforward. Morphometric analyses of the extent of Chiari II malformation may improve t

  9. Interobserver reliability and diagnostic performance of Chiari II malformation measures in MR imaging--part 2.

    NARCIS (Netherlands)

    Geerdink, N.; Vliet, T. van der; Rotteveel, J.J.; Feuth, T.; Roeleveld, N.; Mullaart, R.A.

    2012-01-01

    PURPOSE: Brain MR imaging is essential in the assessment of Chiari II malformation in clinical and research settings concerning spina bifida. However, the interpretation of MR images of the malformation is not always straightforward. Morphometric analyses of the extent of Chiari II malformation may

  10. Research Concerning the Correlations Between Urinary Tract Infections and Congenital Malformations of the Renourinary System

    Directory of Open Access Journals (Sweden)

    Moréh Zsuzsanna

    2013-02-01

    Full Text Available Introduction: Congenital malformations of the urinary system are risk factors for the development of urinary tract infections (UTI. Besides the severity of the malformation, urinary infection is always associated with poor prognosis for these patients. Late discovery of the malformation background, after several urinary tract infection episodes, contributes to the development of chronic pyelonephritis that may lead to chronic renal failure.

  11. Notch-1 Signalling Is Activated in Brain Arteriovenous Malformations in Humans

    Science.gov (United States)

    ZhuGe, Qichuan; Zhong, Ming; Zheng, WeiMing; Yang, Guo-Yuan; Mao, XiaoOu; Xie, Lin; Chen, Gourong; Chen, Yongmei; Lawton, Michael T.; Young, William L.; Greenberg, David A.; Jin, Kunlin

    2009-01-01

    A role for the Notch signalling pathway in the formation of arteriovenous malformations during development has been suggested. However, whether Notch signalling is involved in brain arteriovenous malformations in humans remains unclear. Here, we performed immunohistochemistry on surgically resected brain arteriovenous malformations and found that,…

  12. Mimosa tenuiflora as a Cause of Malformations in Ruminants in the Northeastern Brazilian Semiarid Rangelands

    Science.gov (United States)

    Craniofacial anomalies, eye malformations, and permanent flexures of the forelimbs are common malformations seen in ruminants grazing semiarid rangelands of Northeastern Brazil. To investigate the cause of these malformations, we fed 2 suspected plants, Mimosa tenuiflora or Prosopis juliflora, to gr...

  13. Notch-1 Signalling Is Activated in Brain Arteriovenous Malformations in Humans

    Science.gov (United States)

    ZhuGe, Qichuan; Zhong, Ming; Zheng, WeiMing; Yang, Guo-Yuan; Mao, XiaoOu; Xie, Lin; Chen, Gourong; Chen, Yongmei; Lawton, Michael T.; Young, William L.; Greenberg, David A.; Jin, Kunlin

    2009-01-01

    A role for the Notch signalling pathway in the formation of arteriovenous malformations during development has been suggested. However, whether Notch signalling is involved in brain arteriovenous malformations in humans remains unclear. Here, we performed immunohistochemistry on surgically resected brain arteriovenous malformations and found that,…

  14. Umbilical arteriovenous malformation in a healthy neonate with umbilical hernia.

    Science.gov (United States)

    Marcelo Boglione, Mariano; D Alessandro, Pablo; Reusmann, Aixa; Rubio, Martín; Lipsich, José; Goldsmith, Gustavo

    2013-01-01

    We describe the case of a neonate with an umbilical hernia and persistent wet umbilicus. Examination revealed a pulsatile umbilical cord with palpable thrill. Doppler ultrasound suspected umbilical arteriovenous malformation and contrast-enhanced computed tomography was performed leading to a definitive diagnosis. Surgery was successfully performed on day 27.

  15. Pathogenesis of cerebral malformations in human fetuses with meningomyelocele

    NARCIS (Netherlands)

    de Wit, Olga A; den Dunnen, Wilfred Fa; Sollie, Krystyne M; Muñoz, Rosa Iris; Meiners, Linda C; Brouwer, Oebele F; Rodríguez, Esteban M; Sival, Deborah A

    2008-01-01

    BACKGROUND: Fetal spina bifida aperta (SBA) is characterized by a spinal meningomyelocele (MMC) and associated with cerebral pathology, such as hydrocephalus and Chiari II malformation. In various animal models, it has been suggested that a loss of ventricular lining (neuroepithelial/ependymal denud

  16. Morning glory disc anomaly with Chiari type I malformation.

    Science.gov (United States)

    Arlow, Tim; Arepalli, Sruthi; Flanders, Adam E; Shields, Carol L

    2014-04-30

    Morning glory disc anomaly is a rare optic nerve dysplasia associated with various neovascular abnormalities. Due to these associations, children with morning glory disc anomaly have brain imaging and angiography to detect other congenital defects. The authors report the case of an infant with morning glory disc anomaly and coexisting Chiari type I malformation.

  17. Vascular malformation (so-called hemangioma) of Scarpa's ganglion

    NARCIS (Netherlands)

    Bernardeschi, D; Dunnebier, EA; Sauvaget, E; Herman, P; Wassef, M; Huy, PTB

    2004-01-01

    Vascular malformations of the cerebello-pontine angle (CPA) arising from the capillary plexus surrounding Scarpa's ganglion are rare tumors. We report a case of so-called "hemangioma" of the CPA which was operated on via a trans-labyrinthine approach based on a preoperative diagnosis of vestibular s

  18. Umbilical Arteriovenous Malformation in a Healthy Neonate with Umbilical Hernia

    OpenAIRE

    2013-01-01

    We describe the case of a neonate with an umbilical hernia and persistent wet umbilicus. Examination revealed a pulsatile umbilical cord with palpable thrill. Doppler ultrasound suspected umbilical arteriovenous malformation and contrast-enhanced computed tomography was performed leading to a definitive diagnosis. Surgery was successfully performed on day 27.

  19. Diagnosis and management of venous malformations: An overview

    Institute of Scientific and Technical Information of China (English)

    Wayne F. Yakes

    2008-01-01

    Venous malformations pose some of the most difficult challenges in the practice of medicine today. Clinical manifestations of these lesions are extremely protean. Because of the rarity of these lesions, most clinicians have limited experience in their diagnosis and management, which augments the enormity of the problem and can lead to misdiagnoses,inadequate treatment, high complication rates, and poor patient outcomes. Vascular malformations are best treated in medical centers where patients with these maladies are seen regularly and the team approach is used. The occasional embolizer will never gain enough experience to treat these problematic lesions adequately. More importantly, when complicationsdo occur, the morbidity of that complication is worsened because of this lack of experience and the absence of an experienced team of physicians. All too frequently, the patient ultimately pays for a physician's initial enthusiasm, inexperience, folly, and lack of necessary clinician backup. A cavalier approach to the management of venous malformations will always lead to significant complications and dismal patient outcomes. These patients should be referred to centers that regularly treat vascular malformations, appropriately manage complications in a timely manner, and routinely deal with the dilemmas they present. Only in this fashion can significant experience be gained, improved judgment in managing these lesions develop, and definitive appropriate statements in the treatment of vascular anomalies evolve.

  20. Congenital subclavian arteriovenous malformation causing cardiac failure in an adult.

    Science.gov (United States)

    Anoop, T M; Sreejith, P; Thomas, Joby K; Gailin, B; Jabbar, P K; Ittycheria, Cherian C; George, Raju

    2009-07-01

    Congenital arteriovenous malformations (AVMs) of the thoracic region are rarely reported in adults. The authors report an unusual case of a 30-year-old man who presented with a large congenital AVM and heart failure. The diagnosis was made using transthoracic Doppler echocardiography and computed tomography. Embolization followed by surgical resection of the AVM resulted in the prompt relief of heart failure.

  1. multiple congenital skeletal malformations in a associated with ...

    African Journals Online (AJOL)

    There were multiple skeletal malformations which included brachygnathia, arthrogryposis and ... Dystocia was believed to be a result of fetal monstrosity resulting in abnormal posture. The cause ... subsequent pregnancies are envisaged. ... veterinarian to deliver a dead lamb that ... difficult to understand why only one of the.

  2. Surgical and Technical Modalities for Hearing Restoration in Ear Malformations.

    Science.gov (United States)

    Dazert, Stefan; Thomas, Jan Peter; Volkenstein, Stefan

    2015-12-01

    Malformations of the external and middle ear often go along with an aesthetic and functional handicap. Independent of additional aesthetic procedures, a successful functional hearing restoration leads to a tremendous gain in quality of life for affected patients. The introduction of implantable hearing systems (bone conduction and middle ear devices) offers new therapeutic options in this field. We focus on functional rehabilitation of patients with malformations, either by surgical reconstruction or the use of different implantable hearing devices, depending on the disease itself and the severity of malformation as well as hearing impairment. Patients with an open ear canal and minor malformations are good candidates for surgical hearing restoration of middle ear structures with passive titanium or autologous implants. In cases with complete fibrous or bony atresia of the ear canal, the most promising functional outcome and gain in quality of life can be expected with an active middle ear implant or a bone conduction device combined with a surgical aesthetic rehabilitation in a single or multi-step procedure. Although the surgical procedure for bone conduction devices is straightforward and safe, more sophisticated operations for active middle ear implants (e.g., Vibrant Soundbridge, MED-EL, Innsbruck, Austria) provide an improved speech discrimination in noise and the ability of sound localization compared with bone conduction devices where the stimulation reaches both cochleae.

  3. ANORECTAL MALFORMATION FEMALE CHILDREN ONE STAGE PROCEDURE ASARP

    Directory of Open Access Journals (Sweden)

    Dhirendra

    2016-03-01

    Full Text Available CONTEXT Anorectal malformation is a common congenital defect in children and its management has evolved over the years. Anterior sagittal approach is established as a popular technique for the correction of anovestibular fistula in children with anorectal malformations due to advancement of technology magnification, muscle stimulation and precise placement of the anal canal within the external sphincter complex. AIMS To study the outcome of anterior sagittal approach as single stage procedure for anorectal malformations in female children at tertiary care centre. SETTINGS AND DESIGN Paediatric Surgery Department, Gandhi Medical College, Bhopal. A retrospective analysis. METHODS 24 female patients with congenital anorectal malformation who underwent Anterior Sagittal Anorectoplasty (ASARP as a single stage procedure were reviewed. The surgical procedure and its outcome were evaluated. RESULTS There was no case that had significant haemorrhage during or after procedure; 4 cases had rent in the posterior vaginal wall which was managed adequately due to early detection. There were six cases with wound infection. One case had dehiscence; three cases developed constipation, which was managed with dilation and bowel training. CONCLUSION ASARP as a single stage procedure without colostomy cover should be considered as a preferable option for the management of anovestibular fistula in female children.

  4. Congenital Cystic Adenomatoid Malformation of Lung-Rare Case Report

    Directory of Open Access Journals (Sweden)

    N. S. Kamakeri

    2016-10-01

    Full Text Available Congenital cystic adenomatoid malformation of lung associated with Cystic dysplasia of kidney, cystic disease of liver with mixed gonadal dysgenesis is rare and is not reported in literature so far. Hence an attempt is made to present this rarest entity.

  5. Three-dimensional spiral CT of craniofacial malformations in children

    Energy Technology Data Exchange (ETDEWEB)

    Binaghi, S. [Payerne Hopital, Lausanne (Switzerland). Dept. of Radiology; Service de Radiodiagnostic et Radiologie Interventionnelle, Lausanne (Switzerland); Gudinchet, F. [Payerne Hopital, Lausanne (Switzerland). Dept. of Radiology; Rilliet, B. [Dept. of Neurosurgery, University Hospital of Lausanne (Switzerland)

    2000-12-01

    Objective. To assess the value of three-dimensional CT (3D CT) in the diagnosis and management of suspected paediatric craniofacial malformations. Materials and methods. Twenty-eight children (12 girls, 16 boys) with a mean age of 4 years, suffering from craniofacial or cervical malformations, underwent craniofacial spiral CT. 3D reformatting was performed using an independent workstation. Results. 3D CT allowed the preoperative evaluation of 16 patients with craniosynostosis and the post-surgical management of 2 patients. 3D CT clearly depicted malformations of the skull base involving the petrous bone in seven patients (four cases of Goldenhar-Gorlin syndrome, one case of Treacher-Collins syndrome and two cases of Crouzon's disease). Four patients with craniofacial clefts were also evaluated. Radiological findings were confirmed by the clinical and intraoperative findings in all patients that underwent surgical treatment. Movement artefacts and ''Lego effect'' related to abrupt change of cranial vault border were encountered and are discussed. Conclusions. 3D CT of the skull can safely and reliably identify paediatric craniofacial malformations involving bone, and it should be used as morphological mapping to help the surgeon in planning surgical treatment. (orig.)

  6. Congenital malformations and maternal occupational exposure to glycol ethers

    NARCIS (Netherlands)

    Cordier, S; Bergeret, A; Goujard, J; Ha, MC; Ayme, S; Calzolari, E; DeWalle, HEK; KnillJones, R; Candela, S; Dale, [No Value; Dananche, B; deVigan, C; Fevotte, J; Kiel, G; Mandereau, L

    1997-01-01

    Glycol ethers are found in a wide range of domestic and industrial products, many of which are used in women's work environments. Motivated by concern about their potential reproductive toxicity, we have evaluated the risk of congenital malformations related to glycol ether exposure during preg nanc

  7. Pathogenesis of cerebral malformations in human fetuses with meningomyelocele

    NARCIS (Netherlands)

    de Wit, Olga A; den Dunnen, Wilfred Fa; Sollie, Krystyne M; Muñoz, Rosa Iris; Meiners, Linda C; Brouwer, Oebele F; Rodríguez, Esteban M; Sival, Deborah A

    2008-01-01

    BACKGROUND: Fetal spina bifida aperta (SBA) is characterized by a spinal meningomyelocele (MMC) and associated with cerebral pathology, such as hydrocephalus and Chiari II malformation. In various animal models, it has been suggested that a loss of ventricular lining (neuroepithelial/ependymal denud

  8. Vascular malformation (so-called hemangioma) of Scarpa's ganglion

    NARCIS (Netherlands)

    Bernardeschi, D; Dunnebier, EA; Sauvaget, E; Herman, P; Wassef, M; Huy, PTB

    2004-01-01

    Vascular malformations of the cerebello-pontine angle (CPA) arising from the capillary plexus surrounding Scarpa's ganglion are rare tumors. We report a case of so-called "hemangioma" of the CPA which was operated on via a trans-labyrinthine approach based on a preoperative diagnosis of vestibular

  9. Antidepressant exposure during early pregnancy and congenital malformations

    DEFF Research Database (Denmark)

    Pedersen, Lars Henning

    are reassuring, however, an association with heart malformations has been suggested for e.g. paroxetine. A potential biological explanation will be reviewed. The potential teratogenic potential of antidepressants needs to be balanced against the obvious problems associated with under-treated maternal depression...

  10. Cochlear implantation in inner ear malformations--a review article.

    Science.gov (United States)

    Sennaroglu, Levent

    2010-03-01

    Inner ear malformations constitute about 20% of congenital sensorineural hearing loss. In this review article an updated classification of cochlear malformations is provided. Incomplete partition and cochlear hypoplasia cases are each divided further into three groups. There are two main difficulties in the surgery of inner ear malformations; gusher and facial nerve abnormalities. Radiological features of malformations necessary to identify these problems preoperatively are discussed. Facial nerve abnormalities that may occur are described. Two different types of cerebrospinal fluid leakage are defined and necessary measures to prevent leakage are described. Standard and modified surgical approaches to overcome the described problems are described with literature findings. Finally meningitis which may occur with and without cochlear implantation in this special group of patients is emphasized. This is common in incomplete partition type I patients and is usually due to a fistula in one of the windows (usually oval window) which occurs as a result of cerebrospinal fluid pressure. This is a medical emergency leading to potential meningitis and measures that should be taken to stop the leak as soon as possible are described.

  11. Congenital Auricular Malformations: Description of Anomalies and Syndromes.

    Science.gov (United States)

    Bartel-Friedrich, Sylva

    2015-12-01

    Half of the malformations in the ear, nose, and throat region affect the ear. Malformations of the external ear (pinna or auricle with external auditory canal [EAC]) are collectively termed microtia. Microtia is a congenital anomaly that ranges in severity from mild structural abnormalities to complete absence of the external ear (anotia). Microtia occurs more frequently in males (∼2 or 3:1), is predominantly unilateral (∼70-90%), and more often involves the right ear (∼60%). The reported prevalence varies geographically from 0.83 to 17.4 per 10,000 births. Microtia may be genetic (with family history, spontaneous mutations) or acquired. Malformations of the external ear can also involve the middle ear and/or inner ear. Microtia may be an isolated birth defect, but associated anomalies or syndromes are described in 20 to 60% of cases, depending on study design. These generally fit within the oculo-auriculo-vertebral spectrum; defects are located most frequently in the facial skeleton, facial soft tissues, heart, and vertebral column, or comprise a syndrome (e.g., Treacher Collins syndrome). Diagnostic investigation of microtia includes clinical examination, audiologic testing, genetic analysis and, especially in higher grade malformations with EAC deformities, computed tomography (CT) or cone-beam CT for the planning of surgery and rehabilitation procedures, including implantation of hearing aids.

  12. Appendicitis Presenting Concurrently with Cecal Arteriovenous Malformation in a Child

    Directory of Open Access Journals (Sweden)

    Sahil P Parikh

    2015-09-01

    Full Text Available Acute appendicitis is a commonly diagnosed surgical problem in the pediatric population. Arterio-venous malformations (AVM of the colonic tract are rarely reported in the pediatric literature. A 13-year old boy who presented with acute appendicitis with concurrent cecal AVM is reported in whom appendectomy was done. Later on radiological investigations AVM was confirmed.

  13. Occlusion of pulmonary arteriovenous malformations by use of vascular plug

    DEFF Research Database (Denmark)

    Andersen, P E; Kjeldsen, A D

    2007-01-01

    Pulmonary arteriovenous malformations are commonly treated by embolization with coils or balloons to prevent cerebral complications and to raise the oxygenation of the blood. The Amplatzer vascular plug is a new occlusive device made of a self-expanding cylindrical nitinol mesh. It is fast and safe...

  14. Long segment composite split cord malformation with double bony spur

    Directory of Open Access Journals (Sweden)

    Sharma Anand

    2015-09-01

    Full Text Available A composite type of SCM is very rare and only a few cases have been reported until today. The frequency of composite- type SCM is lower than 1% in the literature. In this report, we presented an unusual case of long segment composite type split cord malformation with double level bony spur with multiple associated bony anomalies.

  15. Temperament profiles of children with vein of Galen malformations.

    Science.gov (United States)

    Nass, R; Melnick, J; Berenstein, A

    1998-08-01

    Unlike many brain injured children who are often rather difficult, toddlers and school-aged children with congenital vein of Galen malformations (n = 20; age range, 4 months to 12 years with a mean of 4 years) evidence a relatively positive temperament profile (based on the Temperament Scales of Carey, McDevitt, Fullard, Hegvik, Medoff-Cooper). They do not, however, differ from normal children with regard to the frequency of easy, difficult, slow to warm up, and intermediate temperament clusters. The temperament profile of children with vein of Galen malformations appears unaffected by additional neurologic abnormalities (hydrocephalus, abnormal developmental quotient, seizure disorder, focal cortical lesions) or other factors including age at testing, sex, or socioeconomic status. Contrary to the findings in adults of right hemisphere dominance for attention, presence of additional right-sided focal cortical pathology was not associated with greater activity level, distractibility, or impersistence. In contrast to the findings in adults and children of right hemisphere dominance for emotions in general, children with vein of Galen malformations and additional right hemisphere cortical damage are not more difficult than those with additional left cortical pathology or no additional focal cortical pathology. The fact that the pathology in vein of Galen malformations is subcortical may explain their relatively easier temperament and the absence of lateralization effects.

  16. Pathogenesis of cerebral malformations in human fetuses with meningomyelocele

    Directory of Open Access Journals (Sweden)

    Brouwer Oebele F

    2008-03-01

    Full Text Available Abstract Background Fetal spina bifida aperta (SBA is characterized by a spinal meningomyelocele (MMC and associated with cerebral pathology, such as hydrocephalus and Chiari II malformation. In various animal models, it has been suggested that a loss of ventricular lining (neuroepithelial/ependymal denudation may trigger cerebral pathology. In fetuses with MMC, little is known about neuroepithelial/ependymal denudation and the initiating pathological events. The objective of this study was to investigate whether neuroepithelial/ependymal denudation occurs in human fetuses and neonates with MMC, and if so, whether it is associated with the onset of hydrocephalus. Methods Seven fetuses and 1 neonate (16–40 week gestational age, GA with MMC and 6 fetuses with normal cerebral development (22–41 week GA were included in the study. Identification of fetal MMC and clinical surveillance of fetal head circumference and ventricular width was performed by ultrasound (US. After birth, MMC was confirmed by histology. We characterized hydrocephalus by increased head circumference in association with ventriculomegaly. The median time interval between fetal cerebral ultrasound and fixing tissue for histology was four days. Results At 16 weeks GA, we observed neuroepithelial/ependymal denudation in the aqueduct and telencephalon together with sub-cortical heterotopias in absence of hydrocephalus and/or Chiari II malformation. At 21–34 weeks GA, we observed concurrence of aqueductal neuroepithelial/ependymal denudation and progenitor cell loss with the Chiari II malformation, whereas hydrocephalus was absent. At 37–40 weeks GA, neuroepithelial/ependymal denudation coincided with Chiari II malformation and hydrocephalus. Sub-arachnoidal fibrosis at the convexity was absent in all fetuses but present in the neonate. Conclusion In fetal SBA, neuroepithelial/ependymal denudation in the telencephalon and the aqueduct can occur before Chiari II malformation

  17. Imaging diagnosis of venous malformation in head and neck

    Energy Technology Data Exchange (ETDEWEB)

    Ha, Doo Hoe; Kim, Dong Ik; Suh, Jung Ho; Jung, Tae Sub [College of Medicine, Yonsei University, Seoul (Korea, Republic of)

    1992-11-15

    The venous malformation in head and neck is a development vascular disease which arises from the arrest in the certain stage of vascular embryogenesis. However, the lesion extends along the fascia and has a tendency to recur after incomplete therapy. Retrospectively, the authors reviewed radiologic studies of 20 patients diagnosed as venous malformation during the last 5 years. The diagnosis was verified by histopathology (5 patients) and direct puncture angiography (15 patients). The radiologic studies included. CT with intravenous contrast injection (20 patients), RI angiography with 99mTc-pyrophosphate (6 patients), and direct puncture angiography (15 patients). Multiplicity of venous malformation was noted in 9 patients. On CT scan, the lesions had lobulated irregular shape, with heterogeneous appearance, showed delayed enhancing characteristics, and had the phleboliths (21 lesions). The venous malformations were located at the masticator space (including masseter muscle) (n = 12), retrobulbar space (n 6), submandibular space (n = 4), paravertebral space (n = 3) and so on. In two cases, the lesions were very extensive involving entire neck and parapharynx. On RI angiography using {sup 99m}Tc-pyrophosphate, all of the lesions showed persistent and delayed uptake. With direct puncture angiography the lesions could be classified as acinar pattern (n = 17) and mixed pattern (acinar and saccular) (n = 2). Venous connections were noted in 10 lesions. In conclusion, if a soft tissue mass on head and neck shows a heterogeneous attenuation density with or without calcified phlebolith on CT scan, RI angiography is recommended as a next diagnostic study. If it shows delayed persistent uptake, venous malformation can be suspected. Finally direct puncture angiography can verify the nature and extent of the lesion.

  18. Alcohol sclerotherapy to treat vascular malformations in the oral cavity.

    Science.gov (United States)

    Talens Ferrando, A; Ferrer Mengual, S; González-Cruz Soler, A; Martínez Sanjuán, V; Poveda Roda, R; Sanchis Bielsa, J M; Bagán Sebastián, J V

    2013-01-01

    To present our experience in treating vascular malformations in the oral cavity solely by injecting ethanol into the lesions. We treated 26 patients (12 men and 14 women) with oral malformations. The diagnosis was based on clinical findings (n=26), magnetic resonance imaging studies (n=19), angiography findings (n=5), and direct puncture venography (n=2). To achieve sclerosis, we administered absolute ethanol through direct puncture. All interventions were performed under deep sedation. The vascular malformations treated ranged from 7mm to 60mm (median: 24.5mm) in maximum diameter and had been present in the oral cavity for 0.2 to 54 years (mean: 13.6 years). The median age of the patients was 44.5 years (range: 12-87 years). The reason for treatment of the malformation was: an increase in size (n=8), local bleeding (n=11), risk of bleeding during dental extraction (n=5), pain (n=1), and esthetic purposes (n=3). Lesions were located in the mucosa of the cheek (n=12), in the facial gingiva (n=5), in the labial mucosa (n=6), in the tongue (n=3), in the pterygomandibular region (n=1), and in the palate (n=1). The median dose of ethanol was 3.2mL. Twenty lesions disappeared after a single injection session, five after two sessions, two after three sessions, and one after five sessions. In 20 cases all signs of the lesions disappeared, in 6 a bluish macule persisted, and in 2 a mass effect persisted. The symptoms improved in all patients. Only transient complications of sclerotherapy were observed: local inflammation, perioral paresthesia in two patients, and necrosis of the mucosa of the cheek in one. Alcohol sclerotherapy is an efficacious procedure for treating vascular malformations in the oral cavity. Copyright © 2011 SERAM. Published by Elsevier Espana. All rights reserved.

  19. Is a Swine Model of Arteriovenous Malformation Suitable for Human Extracranial Arteriovenous Malformation? A Preliminary Study

    Energy Technology Data Exchange (ETDEWEB)

    Lv, Ming-ming, E-mail: lvmingming001@163.com [Ninth People' s Hospital, Shanghai Jiao Tong University School of Medicine, Department of Oral and Maxillofacial Surgery, Shanghai Key Laboratory of Stomatology (China); Fan, Xin-dong, E-mail: fanxindong@yahoo.com.cn [Ninth People' s Hospital, Shanghai Jiao Tong University School of Medicine, Department of Radiology (China); Su, Li-xin, E-mail: sulixin1975@126.com [Ninth People' s Hospital, Shanghai Jiao Tong University School of Medicine, Department of Oral and Maxillofacial Surgery, Shanghai Key Laboratory of Stomatology (China)

    2013-10-15

    Objective: A chronic arteriovenous malformation (AVM) model using the swine retia mirabilia (RMB) was developed and compared with the human extracranial AVM (EAVM) both in hemodynamics and pathology, to see if this brain AVM model can be used as an EAVM model. Methods: We created an arteriovenous fistula between the common carotid artery and the external jugular vein in eight animals by using end-to-end anastomosis. All animals were sacrificed 1 month after surgery, and the bilateral retia were obtained at autopsy and performed hematoxylin and eosin staining and immunohistochemistry. Pre- and postsurgical hemodynamic evaluations also were conducted. Then, the blood flow and histological changes of the animal model were compared with human EAVM. Results: The angiography after operation showed that the blood flow, like human EAVM, flowed from the feeding artery, via the nidus, drained to the draining vein. Microscopic examination showed dilated lumina and disrupted internal elastic lamina in both RMB of model and nidus of human EAVM, but the thickness of vessel wall had significant difference. Immunohistochemical reactivity for smooth muscle actin, angiopoietin 1, and angiopoietin 2 were similar in chronic model nidus microvessels and human EAVM, whereas vascular endothelial growth factor was significant difference between human EAVM and RMB of model. Conclusions: The AVM model described here is similar to human EAVM in hemodynamics and immunohistochemical features, but there are still some differences in anatomy and pathogenetic mechanism. Further study is needed to evaluate the applicability and efficacy of this model.

  20. Arnold-Chiari Type II Malformation: A Case Report and Review of Prenatal Sonographic Findings

    Directory of Open Access Journals (Sweden)

    Maryam Nik Nejadi

    2008-01-01

    Full Text Available The Arnold-Chiari malformation is a congenital abnormality of CNS, characterized by downwarddisplacement the parts of the cerebellum, fourth ventricle, pons and medulla oblongata into thespinal canal. This malformation is one of causative factor of death in neonates and infants. Athorough understanding of the direct and indirect sonographic findings is necessary for diagnosis ofChiari II malformation in the developing fetus.In this case report, we present a Chiari malformation II detected at 23 weeks of gestation by routinelysonographic screening. The Role of prenatal sonography in recognition of the malformation andprognostic value of these features are discussed.

  1. [Proteus syndrome: Case report of bladder vascular malformation causing massive hematuria].

    Science.gov (United States)

    Abbo, O; Bouali, O; Galinier, P; Moscovici, J

    2012-02-01

    Proteus syndrome is a rare, sporadic disorder consisting of disproportionate overgrowth of multiple tissues, vascular malformations, and connective tissue or epidermal nevi. Due to mosaic pattern of distribution, the phenotypes are variable and diverse. Vascular malformations are part of the major criteria used to define and diagnose this syndrome. It can involve the gastrointestinal tract, spleen, or the urinary tract but bladder malformations are rare. We report here a case of bladder vascular malformation in a 12-year-old boy known to have Proteus syndrome and review the literature on bladder malformations or tumors in this syndrome. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

  2. MRI phenotypes of localized intravascular coagulopathy in venous malformations

    Energy Technology Data Exchange (ETDEWEB)

    Koo, Kevin S.H. [Boston Children' s Hospital, Department of Radiology, Boston, MA (United States); Dowd, Christopher F.; Hess, Christopher P. [University of California, San Francisco, Department of Radiology and Biomedical Imaging, San Francisco, CA (United States); Mathes, Erin F.; Frieden, Ilona J. [University of California, San Francisco, Department of Dermatology, San Francisco, CA (United States); Rosbe, Kristina W. [University of California, San Francisco, Department of Otolaryngology, San Francisco, CA (United States); Hoffman, William Y. [University of California, San Francisco, Department of Surgery, San Francisco, CA (United States)

    2015-10-15

    The incidence of localized intravascular coagulopathy (LIC) in venous malformations varies with lesion size and location, as well as the presence of palpable phleboliths. The development of LIC can cause pain and hemorrhage and can progress to disseminated intravascular coagulopathy (DIC) and thromboembolic disease resulting in death in some cases. Early recognition of LIC can relieve symptoms and prevent progression to life-threatening complications. The aim of this work was to identify MRI features of venous malformation associated with LIC. We hypothesized that venous malformations with larger capacitance, slower flow and less physiological compression (greater stasis) were more likely to be associated with LIC. In this HIPAA-compliant and IRB-approved study, we retrospectively reviewed clinical records and MRI for consecutive patients undergoing evaluation of venous malformations at our multidisciplinary Birthmarks and Vascular Anomalies Center between 2003 and 2013. Inclusion required consensus diagnosis of venous malformation and availability of laboratory data and MRI; patients on anticoagulation or those previously undergoing surgical or endovascular treatment were excluded. LIC was diagnosed when D-dimer exceeded 1,000 ng/mL and/or fibrinogen was less than 200 mg/dL. Two board-certified radiologists assessed the following MRI features for each lesion: morphology (spongiform vs. phlebectatic), presence of phleboliths, size, location (truncal vs. extremity), and tissue type(s) involved (subcutis, muscle, bone and viscera). Univariate logistic regression analyses were used to test associations between LIC and MRI findings, and stepwise regression was applied to assess the significance of the individual imaging predictors. Seventy patients, 37 with LIC, met inclusion criteria during the 10-year study period (age: 14.5 +/- 13.6 years [mean +/- standard deviation]; 30 male, 40 female). Both elevated D-dimer and low fibrinogen were associated with the presence of

  3. Epizootic of ovine congenital malformations associated with Schmallenberg virus infection.

    Science.gov (United States)

    van den Brom, R; Luttikholt, S J M; Lievaart-Peterson, K; Peperkamp, N H M T; Mars, M H; van der Poel, W H M; Vellema, P

    2012-02-01

    Epizootic outbreaks of congenital malformations in sheep are rare and have, to the best of our knowledge, never been reported before in Europe. This paper describes relevant preliminary findings from the first epizootic outbreak of ovine congenital malformations in the Netherlands. Between 25 November and 20 December 2011, congenital malformations in newborn lambs on sheep farms throughout the country were reported to the Animal Health Service in Deventer. Subsequently, small ruminant veterinary specialists visited these farms and collected relevant information from farmers by means of questionnaires. The deformities varied from mild to severe, and ewes were reported to have given birth to both normal and deformed lambs; both male and female lambs were affected. Most of the affected lambs were delivered at term. Besides malformed and normal lambs, dummy lambs, unable to suckle, were born also on these farms. None of the ewes had shown clinical signs during gestation or at parturition. Dystocia was common, because of the lambs' deformities. Lambs were submitted for post-mortem examination, and samples of brain tissue were collected for virus detection. The main macroscopic findings included arthrogryposis, torticollis, scoliosis and kyphosis, brachygnathia inferior, and mild-to-marked hypoplasia of the cerebrum, cerebellum and spinal cord. Preliminary data from the first ten affected farms suggest that nutritional deficiencies, intoxication, and genetic factors are not likely to have caused the malformations. Preliminary diagnostic analyses of precolostral serum samples excluded border disease virus, bovine viral diarrhoea virus, and bluetongue virus. In December 2011, samples of brain tissue from 54 lambs were sent to the Central Veterinary Institute of Wageningen University Research, Lelystad. Real-time PCR detected the presence of a virus, provisionally named the Schmallenberg virus, in brain tissue from 22 of the 54 lambs, which originated from seven of eight

  4. Management of extensive intraparotid vascular malformation: a case report

    Directory of Open Access Journals (Sweden)

    Katerina Anesti

    2014-06-01

    Full Text Available Treatment of large soft tissue vascular lesions remains one of the greatest challenges in modern plastic surgery. The extent of the disease and the involved structures, but also the expectations of the patients are important in determining the way of treatment. The effective management of hemangiomas and vascular malformations of the head and neck requires a team approach, in order to understand the biologic behavior of the lesion, complete the diagnostic studies necessary to define the area of involvement, and understand the benefits and limitations of interventional radiologic and surgical procedures. The synthesis of this knowledge can help determine the best treatment. The strategic plan and subsequent management of a 34-year-old Maori man with an extensive arteriovenous intraparotid malformation is presented.

  5. Use of tramadol in early pregnancy and congenital malformation risk.

    Science.gov (United States)

    Källén, Bengt; Reis, Margareta

    2015-12-01

    Only few studies exist regarding the risk of a teratogenic effect of tramadol when used in early pregnancy. Using the Swedish Medical Birth Register, women (deliveries in 1997-2013) who had reported the use of tramadol in early pregnancy were identified. Maternal characteristics and concomitant drug use were analyzed. Among 1,682,846 women (1,797,678 infants), 1751 (1776 infants) had used tramadol, 96 of the infants had a congenital malformation and 70 of them were relatively severe. The adjusted odds ratio for a relatively severe malformation was 1.33 (95% CI 1.05-1.70). The odds ratios for cardiovascular defects (1.56, 95% CI 1.04-2.29) and for pes equinovarus (3.63, 95% CI 1.61-6.89) were significantly increased. The study suggests a teratogenic effect of tramadol but the risk increase is moderate. Copyright © 2015 Elsevier Inc. All rights reserved.

  6. Pediatric lymphatic malformations: evolving understanding and therapeutic options.

    Science.gov (United States)

    Defnet, Ann M; Bagrodia, Naina; Hernandez, Sonia L; Gwilliam, Natalie; Kandel, Jessica J

    2016-05-01

    Multimodal treatment of lymphatic malformations continues to expand as new information about the biology and genetics of these lesions is discovered, along with knowledge gained from clinical practice. A patient-centered approach, ideally provided by a multidisciplinary medical and surgical team, should guide timing and modality of treatment. Current treatment options include observation, surgery, sclerotherapy, radiofrequency ablation, and laser therapy. New medical and surgical therapies are emerging, and include sildenafil, propranolol, sirolimus, and vascularized lymph node transfer. The primary focus of management is to support and optimize these patients' quality of life. Researchers continue to study lymphatic malformations with the goal of increasing therapeutic options and developing effective clinical pathways for these complicated lesions.

  7. Linear accelerator radiosurgery for arteriovenous malformations: Updated literature review.

    Science.gov (United States)

    Yahya, S; Heyes, G; Nightingale, P; Lamin, S; Chavda, S; Geh, I; Spooner, D; Cruickshank, G; Sanghera, P

    2017-04-01

    Arteriovenous malformations (AVMs) are the leading causing of intra-cerebral haemorrhage. Stereotactic radiosurgery (SRS) is an established treatment for arteriovenous malformations (AVM) and commonly delivered using Gamma Knife within dedicated radiosurgery units. Linear accelerator (LINAC) SRS is increasingly available however debate remains over whether it offers an equivalent outcome. The aim of this project is to evaluate the outcomes using LINAC SRS for AVMs used within a UK neurosciences unit and review the literature to aid decision making across various SRS platforms. Results have shown comparability across platforms and strongly supports that an adapted LINAC based SRS facility within a dynamic regional neuro-oncology department delivers similar outcomes (in terms of obliteration and toxicity) to any other dedicated radio-surgical platform. Locally available facilities can facilitate discussion between options however throughput will inevitably be lower than centrally based dedicated national radiosurgery units.

  8. UNILATERAL RETINAL VASCULAR MALFORMATION IN HEREDITARY HEMORRHAGIC TELANGIECTASIA

    Directory of Open Access Journals (Sweden)

    Ananth Bhandary

    2014-07-01

    Full Text Available Hereditary hemorrhagic telangeiectasia (HHT is an autosomal dominant genetic disorder that leads to vascular malformations. It was first recognized in the 19th century as a familial disorder with abnormal vascular structures causing bleeding from the nose and gastrointestinal tract. HHT is characterized by telangiectatic lesions of the nose, lips, lungs, brain, and spinal cord. The reported incidence in Europe and Japan is between 1:5000 and 1:8000; but is widely variable in other regions. It is seen more frequently in whites. Ocular involvement has been reported in patients with HHT. Although conjunctival telangiectasia is the most common manifestation, rarely intraocular vascular lesions such as retinal telangiectasia and arteriovenous malformations in the retina, are seen. We describe a patient with HHT who had an abnormal unilateral retinal vascular abnormality along with tortuous conjunctival vasculature in the other eye, which has not been reported till date

  9. Congenital malformations of the vertebral column in ancient amphibians.

    Science.gov (United States)

    Witzmann, F; Rothschild, B M; Hampe, O; Sobral, G; Gubin, Y M; Asbach, P

    2014-04-01

    Temnospondyls, the largest group of Palaeozoic and Mesozoic amphibians, primitively possess rhachitomous vertebrae with multipartite centra (consisting of one horse-shoe-shaped inter- and paired pleurocentra). In a group of temnospondyls, the stereospondyls, the intercentra became pronounced and disc-like, whereas the pleurocentra were reduced. We report the presence of congenital vertebral malformations (hemi, wedge and block vertebrae) in Permian and Triassic temnospondyls, showing that defects of formation and segmentation in the tetrapod vertebral column represent a fundamental failure of somitogenesis that can be followed throughout tetrapod evolution. This is irrespective of the type of affected vertebra, that is, rhachitomous or stereospondylous, and all components of the vertebra can be involved (intercentrum, pleurocentrum and neural arch), either together or independently on their own. This is the oldest known occurrence of wedge vertebra and congenital block vertebra described in fossil tetrapods. The frequency of vertebral congenital malformations in amphibians appears unchanged from the Holocene.

  10. Management of Cerebral Cavernous Malformations: From Diagnosis to Treatment

    Directory of Open Access Journals (Sweden)

    Nikolaos Mouchtouris

    2015-01-01

    Full Text Available Cerebral cavernous malformations are the most common vascular malformations and can be found in many locations in the brain. If left untreated, cavernomas may lead to intracerebral hemorrhage, seizures, focal neurological deficits, or headaches. As they are angiographically occult, their diagnosis relies on various MR imaging techniques, which detect different characteristics of the lesions as well as aiding in planning the surgical treatment. The clinical presentation and the location of the lesion are the most important factors involved in determining the optimal course of treatment of cavernomas. We concisely review the literature and discuss the advantages and limitations of each of the three available methods of treatment—microsurgical resection, stereotactic radiosurgery, and conservative management—depending on the lesion characteristics.

  11. Chiari malformation, syringomyelia and bulbar palsy in X linked hypophosphataemia.

    Science.gov (United States)

    Watts, Laura; Wordsworth, Paul

    2015-11-11

    X linked hypophosphataemia (XLH) is a rare condition with numerous musculoskeletal complications. It may mimic other more familiar conditions, such as vitamin D deficiency, ankylosing spondylitis or diffuse idiopathic skeletal hyperostosis. We describe two cases with Chiari type 1 malformations and syringomyelia, neither of which is well recognised in XLH. The first presented late with the additional complications of spinal cord compression, pseudofracture, renal stones and gross femoroacetabular impingement requiring hip replacement. The second also had bulbar palsy; the first case to be described in this condition, to the best of our knowledge. We wish to raise awareness of the important neurological complications of syringomyelia, Chiari malformation, spinal cord compression and bulbar palsy when treating these patients. We also wish to draw attention to the utility of family history and genetic testing when making the diagnosis of this rare but potentially treatable condition.

  12. Behavioral effects of congenital ventromedial prefrontal cortex malformation

    Directory of Open Access Journals (Sweden)

    Boes Aaron D

    2011-12-01

    Full Text Available Abstract Background A detailed behavioral profile associated with focal congenital malformation of the ventromedial prefrontal cortex (vmPFC has not been reported previously. Here we describe a 14 year-old boy, B.W., with neurological and psychiatric sequelae stemming from focal cortical malformation of the left vmPFC. Case Presentation B.W.'s behavior has been characterized through extensive review Patience of clinical and personal records along with behavioral and neuropsychological testing. A central feature of the behavioral profile is severe antisocial behavior. He is aggressive, manipulative, and callous; features consistent with psychopathy. Other problems include: egocentricity, impulsivity, hyperactivity, lack of empathy, lack of respect for authority, impaired moral judgment, an inability to plan ahead, and poor frustration tolerance. Conclusions The vmPFC has a profound contribution to the development of human prosocial behavior. B.W. demonstrates how a congenital lesion to this cortical region severely disrupts this process.

  13. Large occipito-cervical encephalocele with Chiari III malformation

    Directory of Open Access Journals (Sweden)

    S Ambekar

    2011-01-01

    Full Text Available Chiari type III is the rarest of the Chiari malformations and is usually associated with high morbidity and mortality. Treatment consists of primary closure of the encephalocele with or without cerebro-spinal fluid (CSF shunting. In our case, the patient was treated with ventriculoperitoneal shunt followed by excision of the encephalocele. We propose that large encephaloceles should be treated with CSF shunting prior to repair of the sac so as to achieve optimal result.

  14. Headache and Chiari I Malformation in Children and Adolescents.

    Science.gov (United States)

    Victorio, M Cristina; Khoury, Chaouki K

    2016-02-01

    Headache is a common problem in children and adolescents. Its recurrent and disabling nature may lead to use of neuroimaging to exclude secondary causes of headache such as Chiari I malformation (CM I). CM I has a variety of presentation with headache being the most common symptom. CM I can be asymptomatic and is also often found incidentally in neuroimaging done for conditions other than headache. This article reviews the spectrum of headache in patients with CM I.

  15. Spine malformation complex in 3 diverse syndromic entities

    Science.gov (United States)

    Kaissi, Ali Al; van Egmond-Fröhlich, Andreas; Ryabykh, Sergey; Ochirov, Polina; Kenis, Vladimir; Hofstaetter, Jochen G.; Grill, Franz; Ganger, Rudolf; Kircher, Susanne Gerit

    2016-01-01

    Abstract Rationale: Clinical and radiographic phenotypic characterizations were the base line tool of diagnosis in 3 syndromic disorders in which congenital cervico-thoracic kyphosis was the major deformity. Patients concerns: Directing maximal care toward the radiographic analysis is not only the axial malformation but also toward the appendicular abnormalities was our main concern. We fully documented the diversity of the spine phenotypic malformation complex via the clinical and radiographic phenotypes. Diagnoses: We established the diagnosis via phenotypic/genotypic confirmation in 3 diverse syndromic entities namely acampomelic campomelic dysplasia, Larsen syndrome and Morquio syndrome type A (mucopolysaccharidosis type IV A). Interventions: Surgical interventions have been carried out in the Larsen syndrome and Morquio syndrome type A, resepectively. Outcomes: The earliest the diagnosis is, the better the results are. The necessity to diagnose children in their first year of life has many folds, firstly the management would be in favor of the child's growth and development and secondly, the prognosis could be clearer to the family and the medical staff as well. Our current paper is to sensitize paediatricians, physicians and orthopedic surgeons regarding the necessity to detect the aetiological understanding in every child who manifests a constellation of malformation complex. Lesons: Scoliosis and kyphosis/kyphoscoliosis are not a diagnosis in themselves. Such deformities are mostly a symptom complex correlated to dozens of types of syndromic associations. The rate curve progression and the final severity of congenital spine tilting are related to 3 factors: (a) the type of vertebral malformation present, (b) the patient's phenotype, and (c) the diagnosis. PMID:27977582

  16. Cardiac and vascular malformations; Fehlbildungen von Herz und Gefaessen

    Energy Technology Data Exchange (ETDEWEB)

    Ley, S. [Chirurgische Klinik Dr. Rinecker, Abteilung fuer Diagnostische und Interventionelle Radiologie, Muenchen (Germany); Ludwig-Maximilians-Universitaet Muenchen, Institut fuer Klinische Radiologie, Muenchen (Germany); Ley-Zaporozhan, J. [Ludwig-Maximilians-Universitaet Muenchen, Institut fuer Klinische Radiologie, Abteilung Paediatrische Radiologie, Muenchen (Germany)

    2015-07-15

    Malformations of the heart and great vessels show a high degree of variation. There are numerous variants and defects with only few clinical manifestations and are only detected by chance, such as a persistent left superior vena cava or a partial anomalous pulmonary venous connection. Other cardiovascular malformations are manifested directly after birth and need prompt mostly surgical interventions. At this point in time echocardiography is the diagnostic modality of choice for morphological and functional characterization of malformations. Additional imaging using computed tomography (CT) or magnetic resonance imaging (MRI) is only required in a minority of cases. If so, the small anatomical structures, the physiological tachycardia and tachypnea are a challenge for imaging modalities and strategies. This review article presents the most frequent vascular, cardiac and complex cardiovascular malformations independent of the first line diagnostic imaging modality. (orig.) [German] Fehlbildungen von Herz und Gefaessen zeigen einen erheblichen Variationsspielraum. Es gibt zahlreiche Varianten und Defekte mit geringer Auspraegung, welche nur per Zufall im Lauf des Lebens detektiert werden; hierzu zaehlen z. B. die persistierende linke obere Hohlvene oder partielle Lungenvenenfehlmuendungen. Andere kardiovaskulaere Fehlbildungen zeigen sich frueh post partum und muessen zeitnah, meist operativ, versorgt werden. Zu diesem Zeitpunkt ist die Echokardiographie ein etabliertes und vollstaendig ausreichendes Verfahren zur morphologischen und funktionellen Charakterisierung. Nur in seltenen Faellen wird eine zusaetzliche Bildgebung mittels CT oder MRT benoetigt. Wenn ja, stellen die kleinen anatomischen Strukturen, die physiologische Tachykardie und Tachypnoe eine besondere Herausforderung fuer die Diagnostik dar. In dieser Uebersicht werden, unabhaengig vom diagnostischen Verfahren, die haeufigsten vaskulaeren, kardialen und komplexen kardiovaskulaeren Malformationen

  17. Treatment of pulmonary arteriovenous malformation using platinum coils: case report

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Man Deuk; Kim, Jeung Sook; Lim, Chang Young [College of Medicine, Pochon CHA University, Pochon (China)

    2005-07-15

    Pulmonary arteriovenous malformation (PAVM) is an abnormal direct communication between the pulmonary arteries and veins without any capillary network. The patients may be completely asymptomatic or may they develop serious complications including hemoptysis and brain abscess. We present here a case of incidentally found PAVM in a 33-year-old male who underwent embolization using platinum coils. Coil embolization is a safe, highly effective procedure that should be considered more often for the treatment of PAVM.

  18. Endovascular and microsurgical treatment of cerebral arteriovenous malformations: Current recommendations

    OpenAIRE

    Andrew Conger; Charles Kulwin; Lawton, Michael T; Cohen-Gadol, Aaron A.

    2015-01-01

    Background: Cerebral arteriovenous malformations (AVMs) can be a heterogeneous pathological entity whose management requires a complex decision-making process due to the risks associated with their treatment and natural history. Despite the recently published conclusions of the aborted Randomized Trial of Brain Unruptured AVMs (ARUBA) trial, the authors of this article believe multimodality intervention in general and microsurgical resection in particular continue to play a major role in the ...

  19. Pediatric Stroke: The Importance of Cerebral Arteriopathy and Vascular Malformations

    OpenAIRE

    Beslow, Lauren A.; Jordan, Lori C

    2010-01-01

    Stroke is an important cause of neurologic morbidity in childhood. Population-based estimates of the annual incidence of childhood stroke range from 2 to 13 per 100,000 children. This article will review recent literature on both hemorrhagic and ischemic stroke in children with a focus on cerebral arteriopathy and vascular malformations as stroke risk factors. Additional risk factors include congenital heart disease, sickle cell disease, and hematologic abnormalities among others. Outcomes ar...

  20. Parental perceptions of congenital cardiovascular malformations in their children.

    Science.gov (United States)

    Ezzat, Sameera; Saeedi, Osamah; Saleh, Doa'a A; Hamzeh, Hala; Hamid, Mohamed A; Crowell, Nancy; Boostrom, Camille; Loffredo, Christopher A; Jillson, Irene A

    2016-08-01

    We assessed parental attitudes towards congenital cardiovascular malformations in their children in a cross-sectional study in Egypt. Parents face many problems related to concerns about their child's prognosis, but these associations with parental stress have never been evaluated in Egypt or examined in relation to religiosity in a predominantly Muslim society. Accordingly, we conducted interviews in Cairo with mothers of 99 sequential infants born with conotruncal heart malformations (cases) and 65 mothers of age-matched controls. The survey assessed healthcare access and usage, knowledge of congenital cardiovascular malformations, religiosity, the Locus of Control Scale, and the Parenting Stress Index. Results showed that 45% of the mothers of cases had correct knowledge about their child's diagnosis; 85% were satisfied with the clinical care; and 79% reported that the cost of care was burdensome. Compared with parents of cases, parents of controls were more likely to report stress overall and all its subscales. Regarding belief about locus of control over health, God as a determining factor was given the highest endorsement. Mothers in the congenital cardiovascular malformations group reported a higher level of parental locus of control than did those in the control group. The correlations between stress and locus of control were stronger in the control than in the case group. Religiosity was related neither to stress nor to locus of control. Future studies can explore the roles that personal, familial, and societal factors play in exacerbating or reducing stress levels among parents of sick children, particularly in developing countries where economic pressures are acute.

  1. An Unusual Case Of Urinary Bladder Arteriovenous Malformation

    LENUS (Irish Health Repository)

    Gnanappiragasam, D

    2016-07-01

    A 45-year-old male presented with haematuria and urinary frequency. Computed Tomography (CT) urogram revealed gross thickening of the left bladder wall. Histology showed large vessels cuffed by eosinophonilic material suggestive of urinary bladder arteriovenous malformation (AVM). No further intervention was carried out as symptoms resolve after the resection. Follow up rigid cystoscopy and CT at 3 months showed resolution of all visible pathology and no evidence of recurrence.

  2. Embolization with Gamma Knife Radiosurgery of Giant Intracranial Arteriovenous Malformations.

    Science.gov (United States)

    Chun, Dong Hyun; Kim, Moo Seong; Kim, Sung Tae; Paeng, Sung Hwa; Jeong, Hae Woong; Lee, Won Hee

    2016-01-01

    Giant arteriovenous malformations (i.e., those greater than 6 cm maximum diameter or volume > 33 cc) are difficult to treat and often carry higher treatment morbidity and mortality rates. In our study, we reviewed the angiographic results and clinical outcomes for 11 patients with giant arteriovenous malformations who were treated between 1994 and 2012. The patients selected included 9 males (82%) and 2 females (18%). Their presenting symptoms were hemorrhage (n=2; 18%), seizure (n=7; 64%), and headache (n=2; 12%). Nine patients were Spetzler-Martin Grade III, 2 were Spetzler-Martin Grade IV. The mean arteriovenous malformation volume was 41 cc (33-52 cc). The mean age of the patients was 45.1 years (24-57 years) and the mean radiation dose delivered to the margin of the nidus was 14.2 Gy. Ten patients received pre-Gamma Knife radiosurgery embolization and Gamma Knife radiosurgery, 1 patient received pre-Gamma Knife radiosurgery embolization and Gamma Knife radiosurgery twice and the interval between Gamma Knife radiosurgeries was 3 months. The complete obliteration rate following Gamma Knife radiosurgery was 36%, subtotal obliteration ( > 70% decreased size of nidus) was 36%, and partial obliteration was 28%. One patient experienced a small hemorrhage after embolization. Combined embolization and Gamma Knife radiosurgery showed successful obliteration of the arteriovenous malformation nidus. The use of embolization to initially reduce nidus size followed by Gamma Knife radiosurgery improves the treatment results. Repeated Gamma Knife radiosurgery should be a treatment option when there is a small nidus remnant.

  3. "COCHLEAR IMPLANTATION IN PATIENTS WITH INNER EAR MALFORMATIONS"

    Directory of Open Access Journals (Sweden)

    P. Borghei S. Abdi

    2004-08-01

    Full Text Available Performing cochlear implantation in patients with inner ear malformation has always been a matter of dispute. This study was designed to analyze the operative findings,complications, and postoperative performance of patients with inner ear anomalies who underwent cochlear implantation. Six patients with inner ear malformations underwent implantation in our academic tertiary referral center from 1997 to 2002. The average follow-up period was 27 months. Malformations included one incomplete partition, one common cavity, one narrow internal acoustic canal (IAC in a patient with Riley-Day syndrome and 3 cases of large vestibular aqueduct. All received multi-channel implants either Nucleus 22 or Clarion device. Facial nerve was anomalous in 2 cases. CSF gusher occurred in 4 patients, which was controlled with packing the cochleostomy site. In all cases, the full length of electrode array was inserted, except one with Mondini's dysplasia where insertion failed in the first operation and was referred to another center for a successful surgery on the opposite ear. No other surgical complications were encountered. In 4 cases, all the 22 electrodes could be activated. All patients showed improved hearing performance after implantation. Four showed open-set speech recognition. The one with narrow IAC showed improved awareness to environmental sounds. In the other case (common cavity, the perception tests could not be performed because of very young age. Cochlear implantation in patients with inner ear malformations is a successful way of rehabilitation, although complications should be expected and auditory responses may be highly variable and relatively moderate.

  4. Sulindac metabolites decrease cerebrovascular malformations in CCM3-knockout mice.

    Science.gov (United States)

    Bravi, Luca; Rudini, Noemi; Cuttano, Roberto; Giampietro, Costanza; Maddaluno, Luigi; Ferrarini, Luca; Adams, Ralf H; Corada, Monica; Boulday, Gwenola; Tournier-Lasserve, Elizabeth; Dejana, Elisabetta; Lampugnani, Maria Grazia

    2015-07-07

    Cerebral cavernous malformation (CCM) is a disease of the central nervous system causing hemorrhage-prone multiple lumen vascular malformations and very severe neurological consequences. At present, the only recommended treatment of CCM is surgical. Because surgery is often not applicable, pharmacological treatment would be highly desirable. We describe here a murine model of the disease that develops after endothelial-cell-selective ablation of the CCM3 gene. We report an early, cell-autonomous, Wnt-receptor-independent stimulation of β-catenin transcription activity in CCM3-deficient endothelial cells both in vitro and in vivo and a triggering of a β-catenin-driven transcription program that leads to endothelial-to-mesenchymal transition. TGF-β/BMP signaling is then required for the progression of the disease. We also found that the anti-inflammatory drugs sulindac sulfide and sulindac sulfone, which attenuate β-catenin transcription activity, reduce vascular malformations in endothelial CCM3-deficient mice. This study opens previously unidentified perspectives for an effective pharmacological therapy of intracranial vascular cavernomas.

  5. Percutaneous sclerotherapy for venous malformations using polidocanol under fluoroscopy.

    Directory of Open Access Journals (Sweden)

    Mimura H

    2003-10-01

    Full Text Available This retrospective study evaluated the safety and efficacy of using polidocanol with X-ray fluoroscopy for percutaneous sclerotherapy of venous malformations of the limbs, head, and neck. The subjects were 16 of 18 patients who presented to our department with venous malformations. Two patients were excluded because they were unlikely to benefit from the treatment. Of the 16 included in the study, 1 could not be treated because of inaccessibility, and another was lost to follow-up. Among the 14 cases that we were able to follow-up, 11 cases had had pain as their primary symptom. Following treatment, this symptom remained unchanged in 1 patient, was improved in 4, and had disappeared in 6; however, there was a recurrence of pain for 3 of these patients. Two patients had sought treatment for cosmetic purposes; following treatment, the lesion disappeared in one and showed a significant reduction in the other. The remaining patient presented with a primary symptom of mouth bleeding, which disappeared following treatment. There were no critical complications. Percutaneous sclerotherapy of venous malformations using polidocanol is safe and effective, and permits repeat treatments. The efficacy is especially good for resolving pain, and complications are minor. It is desirable to use fluoroscopy for these procedures

  6. Venous malformation: update on aetiopathogenesis, diagnosis and management.

    Science.gov (United States)

    Dompmartin, A; Vikkula, M; Boon, L M

    2010-10-01

    The aim of this review was to discuss the current knowledge on aetiopathogenesis, diagnosis and therapeutic management of venous malformations (VMs). VMs are slow-flow vascular anomalies. They are simple, sporadic or familial (cutaneomucosal VMs or glomuvenous malformations), combined (e.g. capillaro-venous and capillaro-lymphaticovenous malformations) or syndromic (Klippel-Trenaunay, blue rubber bleb naevus and Maffucci). Genetic studies have identified causes of familial forms and of 40% of sporadic VMs. Another diagnostic advancement is the identification of elevated D-dimer level as the first biomarker of VMs within vascular anomalies. Those associated with pain are often responsive to low-molecular-weight heparin, which should also be used to avoid disseminated intravascular coagulopathy secondary to intervention, especially if fibrinogen level is low. Finally, development of a modified sclerosing agent, ethylcellulose-ethanol, has improved therapy. It is efficient and safe, and widens indications for sclerotherapy to sensitive and dangerous areas such as hands, feet and periocular area.

  7. PREGNANCY AND ITS OUTCOME IN WOMEN WITH MALFORMED UTERUS

    Institute of Scientific and Technical Information of China (English)

    马水清; 边旭明; 郎景和

    2002-01-01

    Objective. To analyze the clinical characteristics of fertility and pregnancy in women with congenital uterine malformations and explore optimal treatments to improve the prognosis.Methods. A retrospective study was conducted on the fertility and obstetric outcome in 153 patients with uterine malformations treated in our hospital from January 1984 to December 1998. Twenty - seven cases with other kinds of genital and/or urinary anomalies but with normal uterus during the same period were enrolled as the control group.Results. The infertility rate was 26.6% (34/128), the miscarriage rate 44.3% (86/194), premature birth rate 9.3% (18/194), abnormal fetal presentation rate 28.4% (29/102), the cesarean section rate 61.8% (63/102), and the perinatal mortality rate 11.8% (12/102).Conclusion. Women with congenital uterine malformation usually have higher incidence of infertility and complications during pregnancy and delivery. Bicornuate and septate uterus can be associated with poor obstetric outcome.

  8. Congenital inner ear malformations without sensorineural hearing loss.

    Science.gov (United States)

    Yukawa, Kumiko; Horiguchi, Satoshi; Suzuki, Mamoru

    2008-03-01

    It has been reported that normal hearing is rare in patients with severe inner ear vestibular malformations [Kokai H, Oohashi M, Ishikawa K, Harada K, Hiratsuka H, Ogasawara M et al. Clinical review of inner ear malformation. J Otolaryngol Jpn 2003;106(10):1038-44; Schuknecht HF. Mondini dysplasia. A clinical pathological study. Ann Otol Rhinol Laryngol 1980;89(Suppl. 65):1-23; Jackler RK, Luxford WM, House WF. Congenital malformations of the inner ear: a classification based on embryogenesis. Laryngoscope 1987;97:2-14; Phelps PD. Congenital lesions of the inner ear, demonstrated by tomography. Arch Otolaryngol 1974;100:11-8]. A 37-year-old woman had combined dysplasia of the posterior and lateral semicircular canals (PSCC, LSCC) with normal cochlear development and normal hearing in both ears. She had complained of dizziness for 8 months. High resolution computed tomography (CT) showed hypogenesis of the bony labyrinth in both ears. Bilateral PSCC and LSCC dysplasia and dilatation of the vestibule were detected. Magnetic resonant imaging (MRI) revealed that the deformity of the PSCC was more severe than the LSCC. Although the caloric test of the left ear elicited no nystagmus and there was reduced response in the right ear, the horizontal vestibulo-occular reflex (VOR) was present. Her dizzy sensation disappeared within 3 months without special treatment. The dizziness attack might have been caused by a temporary breakdown of her peripheral vestibular system.

  9. Sonographic markers for early diagnosis of fetal malformations

    Institute of Scientific and Technical Information of China (English)

    Maria; Daniela; Renna; Paola; Pisani; Francesco; Conversano; Emanuele; Perrone; Ernesto; Casciaro; Gian; Carlo; Di; Renzo; Marco; Di; Paola; Antonio; Perrone; Sergio; Casciaro

    2013-01-01

    Fetal malformations are very frequent in industrialized countries.Although advanced maternal age may affect pregnancy outcome adversely,80%-90%of fetal malformations occur in the absence of a specific risk factor for parents.The only effective approach for prenatal screening is currently represented by an ultrasound scan.However,ultrasound methods present two important limitations:the substantial absence of quantitative parameters and the dependence on the sonographer experience.In recent years,together with the improvement in transducer technology,quantitative and objective sonographic markers highly predictive of fetal malformations have been developed.These markers can be detected at early gestation(11-14 wk)and generally are not pathological in themselves but have an increased incidence in abnormal fetuses.Thus,prenatal ultrasonography during the second trimester of gestation provides a"genetic sonogram",including,for instance,nuchal translucency,short humeral length,echogenic bowel,echogenic intracardiac focus and choroid plexus cyst,that is used to identify morphological features of fetal Down’s syndrome with a potential sensitivity of more than 90%.Other specific and sensitive markers can be seen in the case of cardiac defects and skeletal anomalies.In the future,sonographic markers could limit even more the use of invasive and dangerous techniques of prenatal diagnosis(amniocentesis,etc.).

  10. Fetal magnetic resonance imaging. Diagnostics in cases of congenital cystadenomatoid malformation; Fetale Magnetresonanztomographie. Diagnostik bei zystadenomatoider Malformation der Lunge (CCAM)

    Energy Technology Data Exchange (ETDEWEB)

    Buesing, K.A.; Kilian, A.K.; Neff, K.W. [Fakultaet fuer Klinische Medizin der Universitaet Heidelberg, Institut fuer Klinische Radiologie, Universitaetsklinikum Mannheim, Mannheim (Germany); Schaible, T. [Fakultaet fuer Klinische Medizin der Universitaet Heidelberg, Kinderklinik, Universitaetsklinikum Mannheim, Mannheim (Germany)

    2006-02-15

    Despite advancing therapeutic strategies, congenital cystadenomatoid malformation of the fetal lung is still a potentially life-threatening anomaly. Antenatally, the development of hydrops as well as the natural history of the malformation is of particular therapeutic and prognostic importance. Postnatally, respiratory distress due to pulmonary hypoplasia counts as a crucial limiting factor. Owing to its feasibility and practicability, as well as a high sensitivity, antenatal ultrasound is still the screening method of choice for the detection of fetal thoracic malformations. However, particularly in cases of indistinguishable sonographic findings, fetal MRI is the modality of choice for proving the diagnosis and preliminary appraisal of intensive care therapy and extracorporal membrane oxygenation postnatally. Furthermore, fetal MRI often facilitates assessment and planning of intrauterine surgical procedures. These two features frequently require a close transfer to an expert neonatal centre. (orig.) [German] Trotz verbesserter Therapien stellt die kongenitale zystadenomatoide Malformation der Lunge fuer den Feten weiterhin eine potenziell lebensbedrohliche Missbildung dar. Praenatal sind insbesondere ein Hydrops fetalis sowie der Spontanverlauf von prognostischer und therapeutischer Relevanz. Postnatal kommt der Lungenhypoplasie eine entscheidende Bedeutung zu. Aufgrund der hohen Verfuegbarkeit und Sensitivitaet bleibt die Primaerdiagnostik weiterhin dem Ultraschall vorbehalten. Die fetale MRT hingegen hat sich insbesondere bei unklarer sonographischer Befundlage als Methode der Wahl etabliert. Neben der Diagnosesicherung erleichtert sie durch eine uebersichtliche Darstellung der Befundausdehnung haeufig die Abschaetzung einer postnatalen Intensivtherapie. Mit zunehmender Erfahrung beim Einsatz fetalchirurgischer Verfahren kommt ihr ferner eine wachsende Bedeutung in der Indikationsstellung und Planung praenataler Therapien zu. Beides erfordert u. U. die

  11. Histopathological study of congenital aortic valve malformations in 32 children

    Institute of Scientific and Technical Information of China (English)

    HUANG Ping; WANG Hongwei; LI Yanping; CHENG Peixuan; LIU Qingjun; ZHANG Zhenlu; LIU Jianying

    2007-01-01

    The histopathological characteristics of congenital aortic valve malformations in children were investigated.All the native surgically excised aortic valves from 32 pediatric patients suffering from symptomatic aortic valve dysfunction due to congenital aortic valve malformations between January 2003 and December 2005 were studied macroscopically and microscopically.The patients' medical records were reviewed and the clinical information was extracted.The diagnosis was made by the clinical presentation,preoperative echocardiography,intraoperative examination,and postoperative histopathological study,excluding rheumatic ot degenerative aortic valve diseases,infective endocarditis and primary connective tissue disorders,e.g.Marfan syndrome.Among 32 children with congenital aortic valve malformations,the age was ranged from six to 18 years,with a mean of 14.9 years,and there were 27 boys and five girls (male:female = 5.4:1).There were five cases of aortic stenosis (AS,15.62%),25 cases of aortic insufficiency (AI,78.13 %)and two cases of AS-AI (6.25%),without other valve diseases.Twenty cases still had other congenital heart diseases:ventricular septal defect (19 cases),patent ductus arteriosus (two cases),double-chambered right ventricle (one case),aneurysm of the right anterior aortic sinus of valsalva (three cases).Histopathological examination indicated that the cusps became thickening with unequal size,irregular shape (coiling and prolapse edge),enhanced hardness,and partly calcification.Microscopic investigation revealed the unsharp structure of valve tissue,fibrosis,myxomatous,reduced collagen fiber,rupture of elastic fibers,different degrees of infiltration of inflammatory cells,secondary calcareous and lipid deposit,and secondary fibrosis.Congenital aortic valve malformations in children involve males more than females,mostly associated with other congenital heart diseases.Aortic insufficiency is more common in children with congenital aortic valve

  12. Familial Aggregation of Chiari Malformation: Presentation, Pedigree, and Review of the Literature.

    Science.gov (United States)

    Nagy, Laszlo; Mobley, James; Ray, Coby

    2016-01-01

    This article reports the largest familial aggregation of Chiari malformation in a single family to date as reported in the literature. This study is a retrospective case series of a family of whom five individuals have a confirmed case of Chiari malformation and three additional individuals have Chiari signs and symptoms. This contribution further supports the implication of genetics in the transmission of Chiari malformation. The family reported in this study also has a significant incidence of Ehlers-Danlos. Three sisters, including a set of twins, presented with confirmed cases of Chiari malformation and four of the five children of the twin sisters presented with confirmed or suspected Chiari malformation. Of note, the non-twin sister has three children who are unaffected. This report provides further evidence for a shared loci between the Chiari malformation and Ehlers-Danlos.

  13. Antennal malformations in light ocelli drones of Apis mellifera (Hymenoptera, Apidae).

    Science.gov (United States)

    Chaud-Netto, J

    2000-02-01

    Malformed antennae of Apis mellifera light ocelli drones were drawn, dissected and mounted permanently on slides containing Canada balsam, in order to count the olfactory discs present in each segment, in comparison with the number of those structures in normal antennae of their brothers. Some drones presented morphological abnormalities in a single segment of the right or left antenna, but others had two or more malformed segments in a same antenna. Drones with malformations in both antennae were also observed. The 4th and 5th flagellum segments were the most frequently affected. In a low number of cases the frequency of olfactory discs in malformed segments did not differ from that one recorded for normal segments. However, in most cases studied, the antennal malformations brought about a significant reduction in the number of olfactory discs from malformed segments.

  14. Exposure to topical chloramphenicol during pregnancy and the risk of congenital malformations

    DEFF Research Database (Denmark)

    Thomseth, Vilde; Cejvanovic, Vanja; Jimenez-Solem, Espen

    2015-01-01

    malformations (adjusted odds ratio = 1.06, 95% CI 0.91-1.22) or specific major malformations. The number of redeemed prescriptions decreased significantly during pregnancy as compared to before and after pregnancy (p dispensing...... of chloramphenicol eye drops or eye ointment in the first trimester of pregnancy and major congenital malformations. This is in accordance with a previous study analysing the risk of systemic chloramphenicol....

  15. Chiari I malformation as part of the Floating-Harbor syndrome?

    Science.gov (United States)

    Kurzbuch, Arthur R; Magdum, Shailendra

    2016-12-01

    We report the first case of a patient diagnosed with Floating-Harbor syndrome (FHS) and Chiari I malformation. The 3-year-old girl was of proportional short stature, had delay of language development, conductive hearing loss and a high threshold of pain. Diagnosis of Chiari I malformation may be difficult in FHS patients who present with communication problems. Clinicians following patients with FHS should be aware of a possible relation between FHS and Chiari I malformation.

  16. Cervical spine malformation in cornelia de lange syndrome: a report of three patients.

    Science.gov (United States)

    Bettini, Laura Rachele; Locatelli, Laura; Mariani, Milena; Cianci, Paola; Giussani, Carlo; Canonico, Francesco; Cereda, Anna; Russo, Silvia; Gervasini, Cristina; Biondi, Andrea; Selicorni, Angelo

    2014-06-01

    Cornelia de Lange syndrome (CdLS) is a complex genetic disease with skeletal involvement mostly related to upper limb malformations. We report on three males with clinical and molecular diagnoses of CdLS. Besides typical CdLS features, all showed different cervical spine malformations. To the best of our knowledge, this is an unusual malformation in the CdLS phenotypic spectrum. © 2014 Wiley Periodicals, Inc.

  17. Diagnosis of Congenital Heart Malformations – Possibilities for the Employment of Telepathology

    OpenAIRE

    Cornelia Tennstedt; Kathrin Sunkel-Wehrstedt; Martin Vogel; Peter Hufnagl

    2000-01-01

    Goal: In a study of 10 autopsy cases with congenital cardiac malformations we investigated whether obtaining a second opinion by means of telepathology could satisfy quality standards for the diagnosis of cardiac malformations and what the advantages and disadvantages of such a procedure might be. Material: The investigatory samples were 10 formalin‐fixed hearts with complex malformations from 9 fetuses and one newborn on which autopsies had been performed at the Pathological Institute of the...

  18. Emergency hepatectomy for hepatic arteriovenous malformation combined with pulmonary hypertension in an infant

    Directory of Open Access Journals (Sweden)

    Naruhiko Murase

    2015-12-01

    Full Text Available Patients with hepatic arteriovenous malformations rarely present with pulmonary hypertension. We report the case of a 3-month-old boy who developed severe pulmonary hypertension due to a hepatic arteriovenous malformation. The use of pulmonary vasodilators to treat the patient's pulmonary hypertension worsened his high-output heart failure. This is the first case in which emergency hepatectomy rescued a patient with hepatic arteriovenous malformations who developed pulmonary hypertension.

  19. Definitions and Anatomic Considerations in Chiari I Malformation and Associated Syringomyelia.

    Science.gov (United States)

    Tubbs, R Shane

    2015-10-01

    Current understanding of the hindbrain hernias known as Chiari I malformations is based on more than 100 years of pathologic and clinical experience. Over time, the definition of this finding has been analyzed and altered. The term Chiari I malformation is currently used to describe tonsillar ectopia in a wide range of patients with varying embryonic derailments. This article discusses this malformation, its various definitions, and varied anatomic traits. In addition, the morphology of the commonly associated syringomyelia is reviewed.

  20. Urinary lithiasis and urinary tract malformations in children: A retrospective study of 34 cases

    Directory of Open Access Journals (Sweden)

    Jamila Chahed

    2011-01-01

    Full Text Available Background: Although the association of urinary lithiasis and urinary tract malformation is not rare, their management poses challenges. The aim of this study was to evaluate the relationship between urolithiasis and malformations of the urinary system. There were 34 patients (19 males and 15 females with a mean age of 4.8 years (range, 2 months to 14 years. All patients had urinary lithiasis with a urinary tract malformation. Abdominal pain was the most frequent clinical symptom (38%. Urinary infection was found in 7 patients (21% and macroscopic haematuria was present in 10 patients (29%. The most frequent urinary tract malformations were megaureter (8 cases, uretero-pelvic junction obstruction (7 cases and vesico-ureteric reflux (8 cases, but its malformative origin could not be confirmed. Treatment consisted of lithiasis extraction in 32 cases associated with specific treatment of the uropathy in 27 cases. Postoperative outcome was uneventful in all cases. In fact, urinary lithiasis and urinary tract malformation association is not rare. Indeed, 9-34% of urinary lithiasis are noted to be associated with urinary tract malformation. Positive diagnosis relies specifically on kidney ultrasound, intravenous urography, and urethrocystography. Treatment depends on the type of urinary tract malformation, localisation and size of the urinary lithiasis. Conclusion: In conclusion, urinary lithiasis and urinary tract malformation association is a frequent eventuality. Surgical intervention is the usual mode of treatment.

  1. Maxillo-nasal dysplasia (Binder syndrome) and associated malformations of the cervical spine

    Energy Technology Data Exchange (ETDEWEB)

    Olow-Nordenram, M.A.K.; Raadberg, C.T.

    1984-01-01

    Forty-three patients with maxillo-nasal dysplasia have been subjected to a radiographic examination of the cervical spine. In 44.2 per cent malformations of the cervical vertebrae of a minor or major type were revealed. Dysplasia of the vertebral bodies related to persistence of the chorda dorsalis, a very rare malformation, was found in six cases. No correlation between the incidence or serverity of the malformations and the degree of malocclusion of the jaws and facial deformity, characteristic of Binder syndrome, were noted. The maxillo-nasal dysplasia and the spinal malformations probably have a common cause during the embryologic stage.

  2. Arteriovenous malformations in hereditary haemorrhagic telangiectasia: looking beyond ALK1-NOTCH interactions.

    Science.gov (United States)

    Peacock, Hanna M; Caolo, Vincenza; Jones, Elizabeth A V

    2016-02-01

    Hereditary haemorrhagic telangiectasia (HHT) is characterized by the development of arteriovenous malformations--enlarged shunts allowing arterial flow to bypass capillaries and enter directly into veins. HHT is caused by mutations in ALK1 or Endoglin; however, the majority of arteriovenous malformations are idiopathic and arise spontaneously. Idiopathic arteriovenous malformations differ from those due to loss of ALK1 in terms of both location and disease progression. Furthermore, while arteriovenous malformations in HHT and Alk1 knockout models have decreased NOTCH signalling, some idiopathic arteriovenous malformations have increased NOTCH signalling. The pathogenesis of these lesions also differs, with loss of ALK1 causing expansion of the shunt through proliferation, and NOTCH gain of function inducing initial shunt enlargement by cellular hypertrophy. Hence, we propose that idiopathic arteriovenous malformations are distinct from those of HHT. In this review, we explore the role of ALK1-NOTCH interactions in the development of arteriovenous malformations and examine a possible role of two signalling pathways downstream of ALK1, TMEM100 and IDs, in the development of arteriovenous malformations in HHT. A nuanced understanding of the precise molecular mechanisms underlying idiopathic and HHT-associated arteriovenous malformations will allow for development of targeted treatments for these lesions.

  3. Surgical treatment of Chiari malformation complicated with basilar impression

    Directory of Open Access Journals (Sweden)

    Yuan MA

    2011-02-01

    Full Text Available Objective To evaluate the therapeutic effect of small craniotomic posterior fossa decompression combined with occipital-cervical bone graft fusion and internal fixation on Chiari malformation complicated with basilar impression.Methods The clinical data of 16 cases(7 males and 9 females,aged 17 to 65 years,mean 36.4 of Chiari malformation complicated with basilar impression from 2006 to 2010 were retrospectively analyzed.The diagnoses for all the patients were confirmed by radiology.Small craniotomic posterior fossa decompression was performed in all patients,cerebellar tonsils were resected,and then one-stage occipital-cervical bone graft fusion using autogenous iliac bone and internal wiring fixation were performed.Neck support was used for 3 months after surgery.Results Symptoms were significantly improved in all cases after surgical operation.No patient died or infected.Cerebrospinal fluid leakage was found at draining site in one case.Transient pain of scapular and chest was found in one case and disappeared spontaneously.A 6-months follow-up showed that 6 patients were cured,9 improved and 1 unchanged according to Symon and Lavender standard.Postoperative MRI showed the reconstructed cisterna magna was clear in all patients,no cerebellar ptosis was found,and the occipital-cervical graft bone was fused.Conclusion In patients with Chiari malformation complicated with basilar impression,small craniotomic posterior fossa decompression combined with one-stage occipital-cervical bone graft fusion and internal wiring fixation has a clear and definite effect,it can increase the volume of posterior fossa and alleviate the ventral brain stem compression simultaneously,and reconstruct the stability of cranio-cervical junction.

  4. A complex communicating bronchopulmonary foregut malformation: diagnostic imaging and pathogenesis

    Energy Technology Data Exchange (ETDEWEB)

    Sumner, T.E.; Auringer, S.T.; Cox, T.D. [Department of Radiology, Bowman Gray School of Medicine, Wake Forest University, Medical Center Boulevard, Winston-Salem, NC 27157-1088 (United States)

    1997-10-01

    We report a newborn with an esophageal lung, a rare type of communicating bronchopulmonary foregut malformation (CBPFM). Associated findings included esophageal atresia, tracheoesophageal fistula (TEF) to the distal esophagus, duodenal stenosis with annular pancreas, imperforate anus, vertebral anomalies and ambiguous genitalia. Radiologic evaluation included chest radiographs, esophagrams, chest ultrasound and chest CT. After colostomy and surgical repair of duodenal stenosis and TEF, a right thoracotomy was performed to treat an esophageal lung. Radiologic features of this unusual variant of CBPFM are presented. Accurate preoperative imaging diagnosis is essential for planning surgical treatment of an esophageal lung. (orig.). With 1 fig.

  5. [Oropharyngeal dysphagia associated with Chiari I malformation and syringomyelia J].

    Science.gov (United States)

    Cortés-Medina, Julio César; Cárdenas-Lara, Armando; Guerrero-Rascón, Carlos Alberto; Rodríguez-Bautista, Heber

    2014-01-01

    Dysphagia associated with neurological disease is an important clinical manifestation in the diagnosis of injury that justifies the compression of the brainstem and lower cranial nerves. To emphasize the study of dysphagia in a patient with Chiari I malformation associated with syringomyelia in the absence of primary gastroenterological symptoms. We describe the case of a 62 year-old woman with oropharyngeal dysphagia of six years of evolution, cervicobrachialgia, ptosis and facial diplexia. Magnetic resonance imaging is an essential element for establishing the etiologic diagnosis of neurogenic dysphagia.

  6. Presentation of occult Chiari I malformation following spinal anesthesia

    Directory of Open Access Journals (Sweden)

    Saravanan P Ankichetty

    2012-01-01

    Full Text Available Chiari I malformation (CM-I manifests with tonsillar herniation below foramen magnum. These patients are at high risk of respiratory depression and bulbar dysfunction in the perioperative period with underlying obstructive sleep apnea. However, the safe use of both general and regional anaesthesia has been documented in a known CM-I parturients. We describe the successful management of a patient who had hypercapnic respiratory failure in the post-anaesthetic care unit following an uneventful subarachnoid block for left knee replacement surgery. This patient was retrospectively diagnosed with occult CM-I and moderate to severe obstructive sleep apnea in the postoperative period.

  7. Esophageal lung – A rare bronchopulmonary foregut malformation

    Directory of Open Access Journals (Sweden)

    S.V. Parelkar

    2014-11-01

    Full Text Available Esophageal lung is a rare variety of communicating bronchopulmonary foregut malformation characterized by a fistula between an isolated portion of respiratory tissue and esophagus or stomach. It may involve the entire lung or one of the pulmonary lobes. Only 20 cases have been reviewed in 2011. Fifty percent of cases are associated with a tracheoesophageal fistula. We report a case of a 6 month old girl who was previously operated for TEF repair, with esophageal lobe which was successfully excised. The relevant literature is reviewed.

  8. Malformations of cortical development: 3T magnetic resonance imaging features

    Science.gov (United States)

    Battal, Bilal; Ince, Selami; Akgun, Veysel; Kocaoglu, Murat; Ozcan, Emrah; Tasar, Mustafa

    2015-01-01

    Malformation of cortical development (MCD) is a term representing an inhomogeneous group of central nervous system abnormalities, referring particularly to embriyological aspect as a consequence of any of the three developmental stages, i.e., cell proliferation, cell migration and cortical organization. These include cotical dysgenesis, microcephaly, polymicrogyria, schizencephaly, lissencephaly, hemimegalencephaly, heterotopia and focal cortical dysplasia. Since magnetic resonance imaging is the modality of choice that best identifies the structural anomalies of the brain cortex, we aimed to provide a mini review of MCD by using 3T magnetic resonance scanner images. PMID:26516429

  9. Eruption of blood: Arteriovenous malformation of the penile urethra

    Science.gov (United States)

    White, Joshua T.; Baverstock, Richard J.

    2017-01-01

    While arteriovenous malformations (AVMs) are a common congenital or post-traumatic abnormality, male genital AVMs are rare and have been described in the scrotum or penis in pediatric patients.1,2 We describe a 34-year-old male presenting with recurrent spontaneous penile urethral bleeding found to have an AVM of the penile urethra. While angiography has traditionally been helpful, magnetic resonance imaging (MRI) can aid in the diagnosis and characterization of these lesions.3 Each case of male genital AVM provides a unique challenge to manage depending on the presenting complaint, as there are no guidelines to direct treatment.4 PMID:28163810

  10. Malformations of cortical development:3T magnetic resonance imaging features

    Institute of Scientific and Technical Information of China (English)

    Bilal; Battal; Selami; Ince; Veysel; Akgun; Murat; Kocaoglu; Emrah; Ozcan; Mustafa; Tasar

    2015-01-01

    Malformation of cortical development(MCD) is a term representing an inhomogeneous group of central nervous system abnormalities, referring particularly to embriyological aspect as a consequence of any of the three developmental stages, i.e., cell proliferation, cell migration and cortical organization. These include cotical dysgenesis, microcephaly, polymicrogyria, schizencephaly, lissencephaly, hemimegalencephaly, heterotopia and focal cortical dysplasia. Since magnetic resonance imaging is the modality of choice that best identifies the structural anomalies of the brain cortex, we aimed to provide a mini review of MCD by using 3T magnetic resonance scanner images.

  11. Classical Triad in Pulmonary Arteriovenous Malformation: Clubbing, Cyanosis and Policytemia

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    Hikmet Tekin Nacaroğlu

    2013-08-01

    Full Text Available Pulmonary arteriovenous malformations (PAVM are generally congenital lesions that results from an abnormal capillary development. Lesions can be presented as an isolated single anomaly, or may be multiple when accompanying with autosomal dominant hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber Syndrome; ROWS. These cases may be asymptomatic, but exertional dyspnea, palpitations and easy fatigability may also be seen. The classic radiological appearance is a round, well-circumscribed lesions. Computed tomography of thorax and angiography are also useful for diagnosis. Herein, we present 2 and 13 years old girls with the diagnosis of PAVM with clubbing and cyanosis. (Journal of Current Pediatrics 2013;11:92-5

  12. Uterine Arteriovenous Malformation with Sudden Heavy Vaginal Hemmorhage

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    Marianne Haughey

    2013-09-01

    Full Text Available Dysfunctional uterine bleeding (DUB is a common presentation in the emergency department and has a wide differential. Most presentations of DUB are in hemodynamically stable patients and can be evaluated as an outpatient. Uterine arteriovenous malformation (AVM is one presentation that can result in a life-threatening medical emergency with unexpected sudden and massive vaginal bleeding. We describe a case of a 24-year-old female with sudden heavy vaginal bleeding requiring a blood transfusion, ultrasound evidence of uterine AVM, and a treatment method of expectant management using an intrauterine device in an attempt to preserve fertility. [West J Emerg Med. 2013;14(5:411-414.

  13. A congenital malformation of the maxilla of a horse.

    Science.gov (United States)

    Tudor, R A; Ramirez, O; Tate, L P; Gerard, M P

    1999-01-01

    A 1-month-old male American Paint Horse was evaluated for a hard swelling on the right side of the maxillary region. On radiographs there was a large, expansile outpouching of the right maxillary bone between the second and third premolar teeth. Computed tomography further characterized the expansile lesion to have a soft tissue component and to originate in the region of a caudal maxillary tooth. Surgical reconstruction of the defect was unsuccessful and the animal was euthanetized. Based on failure to find histopathologic evidence of a neoplasm or cyst, the diagnosis was a congenital malformation.

  14. Chromosomal anomalies in the etiology of anorectal malformations: a review.

    Science.gov (United States)

    Marcelis, Carlo; de Blaauw, Ivo; Brunner, Han

    2011-11-01

    Anorectal malformation (ARM) is a severe congenital anomaly that can occur either isolated or in association with other congenital abnormalities. It has a heterogeneous etiology with contribution of both genetic and environmental factors, although the etiological factors remain largely unknown. Several chromosomal abnormalities have been described in patients with an ARM. These chromosomal abnormalities could point to specific genes involved in the development of the anorectal canal and associated structures. This paper reviews the chromosomal abnormalities described in ARM and may act as a starting point to identify chromosomal regions containing putative anorectal development genes. Copyright © 2011 Wiley Periodicals, Inc.

  15. Clinical Presentation of Chiari I Malformation and Syringomyelia in Children.

    Science.gov (United States)

    Pindrik, Jonathan; Johnston, James M

    2015-10-01

    Chiari I malformation and syringomyelia may be associated with a wide spectrum of symptoms and signs in children. Clinical presentations vary based on patient age and relative frequency; some diagnoses represent incidental radiographic findings. Occipitocervical pain, propagated or intensified by Valsalva maneuvers (or generalized irritability in younger patients unable to communicate verbally), and syringomyelia with or without scoliosis are the most common clinical presentations. Cranial nerve or brainstem dysfunction also may be observed in younger patients, and is associated with more complex deformity that includes ventral compression secondary to basilar invagination, retroflexion of the dens, and/or craniocervical instability.

  16. Analysis of Craniocardiac Malformations in Xenopus using Optical Coherence Tomography

    Science.gov (United States)

    Deniz, Engin; Jonas, Stephan; Hooper, Michael; N. Griffin, John; Choma, Michael A.; Khokha, Mustafa K.

    2017-01-01

    Birth defects affect 3% of children in the United States. Among the birth defects, congenital heart disease and craniofacial malformations are major causes of mortality and morbidity. Unfortunately, the genetic mechanisms underlying craniocardiac malformations remain largely uncharacterized. To address this, human genomic studies are identifying sequence variations in patients, resulting in numerous candidate genes. However, the molecular mechanisms of pathogenesis for most candidate genes are unknown. Therefore, there is a need for functional analyses in rapid and efficient animal models of human disease. Here, we coupled the frog Xenopus tropicalis with Optical Coherence Tomography (OCT) to create a fast and efficient system for testing craniocardiac candidate genes. OCT can image cross-sections of microscopic structures in vivo at resolutions approaching histology. Here, we identify optimal OCT imaging planes to visualize and quantitate Xenopus heart and facial structures establishing normative data. Next we evaluate known human congenital heart diseases: cardiomyopathy and heterotaxy. Finally, we examine craniofacial defects by a known human teratogen, cyclopamine. We recapitulate human phenotypes readily and quantify the functional and structural defects. Using this approach, we can quickly test human craniocardiac candidate genes for phenocopy as a critical first step towards understanding disease mechanisms of the candidate genes. PMID:28195132

  17. Surgical Management of Patients with Chiari I Malformation

    Directory of Open Access Journals (Sweden)

    John Siasios

    2012-01-01

    Full Text Available Chiari malformations (CMs constitute a variety of four mainly syndromes (I, II, III, and IV, which describe the protrusion of brain tissue into the spinal canal through the foramen magnum. These malformations frequently occur in combination with other pathological entities such as myelomeningocele, hydrocephalus, and/or hydrosyringomyelia. The recent improvement of imaging techniques has increased not only the rate of CM diagnosis but also the necessity for its early treatment. Several different surgical techniques have been employed in the treatment of patients with symptomatic CM-I. In our current study, a systematic and critical review of the pertinent literature was made for identifying the most commonly employed surgical procedures in the management of these patients. Emphasis was given in outlining the advantages and disadvantages of each surgical approach. Moreover, an attempt was made for defining those parameters that may be prognostic factors for their surgical outcome. There is a consensus that surgical treatment is reserved only for symptomatic patients with CM-I. It has also been postulated that early surgically intervention is usually associated with better outcome. Despite the large number of previously published clinical series, further clinical research with large-scale studies is necessary for defining surgical treatment guidelines in these patients.

  18. A STUDY OF CONGENITAL MALFORMATIONS OF THE EXTERNAL EAR

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    Rubi Saikia

    2016-10-01

    Full Text Available BACKGROUND Congenital external ear malformations like Microtia, Anotia, Preauricular skin tags, etc. cause severe psychological problems in children. If accompanied with atresia of the external auditory canal and the middle ear; hearing loss, developmental delays are also associated with such malformations. AIM The aim of the present study is to evaluate the commonly occurring congenital external ear defects in this part of India. MATERIALS AND METHODS This study was undertaken in patients attending the Plastic Surgery OPD at Assam Medical College Hospital and Smile Train Centre at Srishti Hospitals and Research Centre at Dibrugarh, Assam, from July 2013 to July 2016. We did an analysis of 25 patients with visibly noticeable external ear deformities and recorded the findings as per proforma and took photographs. RESULTS Among the 25 cases, 9 (36% were males and 16 (64% were females. The most common congenital anomaly that we found was microtia 7 (28%. Of these, 1 (4% was isolated microtia and 6 (24% were associated with hemifacial microsomia. The second common finding was preauricular skin tags 5 (20%. 3 of the microtia cases also presented with external auditory canal atresia and hearing loss. CONCLUSION Congenital anomalies of the external ear can seriously change a child’s personality. Proper diagnosis and treatment of such cases will definitely reduce the possible psychological, physical and financial problems of the patient and family as most of them are surgically correctable.

  19. Perinatal risk factors including malformation; Perinatale Risikofaktoren einschliesslich Fehlbildungen

    Energy Technology Data Exchange (ETDEWEB)

    Brachner, A.; Grosche, B.

    1991-10-01

    The study gives a survey of the factors most frequently mentioned in the literature as factors likely to adversely affect a pregnancy. One essential aspect is the discussion of those factors that can be counted among the causes of malformations, as among others, prenatal radiation exposure. The study prepared within the framework of the research project `Radiobiological environmental monitoring in Bavaria` is intended to serve as a basis for a retrospective and prospective evaluation of infant mortality, perinatal conditions and occurrence of malformations in Bavaria, with the principal idea of drawing up an environment - related health survey. The study therefore, in addition to ionizing radiation also takes into account other detectable risks within the ecologic context, as e.g. industrial installations, refuse incineration plants or waste dumps, or urbanity. (orig./MG). [Deutsch] In der vorliegenden Arbeit wird ein Ueberblick ueber die haeufigsten in der Literatur beschriebenen Faktoren, die einen unguenstigen Einfluss auf den Schwangerschaftsverlauf ausueben koennen, gegeben. Ein Hauptgewicht liegt dabei auf der Beschreibung von solchen Faktoren, die mit der Induktion von Fehlbildungen in Zusammenhang gebracht werden koennen, so unter anderem auch der praenatalen Strahlenexposition. Diese Arbeit, die im Rahmen des Forschungsvorhabens `Strahlenbiologisches Umweltmonitoring Bayern` angefertigt wurde, bildet die Grundlage einer im Sinne einer umweltbezogenen Gesundheitsberichterstattung retro- bzw. prospektiv angelegten Auswertung der Saeuglingssterblichkeit, des Perinatalgeschehens und der Fehlbildungshaeufigkeit in Bayern, wobei neben der ionisierenden Strahlung als Risikofaktor auch andere im Rahmen einer oekologischen Studie erfassbare Risiken, wie beispielsweise Industrieansiedlungen, Muellverbrennungsanlagen und -deponien oder Urbanitaet beruecksichtigt werden sollen. (orig./MG).

  20. Smooth ocular pursuit in Chiari type II malformation.

    Science.gov (United States)

    Salman, Michael S; Sharpe, James A; Lillakas, Linda; Steinbach, Martin J; Dennis, Maureen

    2007-04-01

    Chiari type II malformation (CII) is a congenital anomaly of the cerebellum and brainstem, both important structures for processing smooth ocular pursuit. CII is associated with myelomeningocele and hydrocephalus. We investigated the effects of CII on smooth pursuit (SP) eye movements, and determined the effects of spinal lesion level, number of shunt revisions, nystagmus, and brain dysmorphology on SP. SP was recorded using an infrared eye tracker in 21 participants with CII (11 males, 10 females; age range 8-19y, mean 14y 3mo [SD 3y 2mo]). Thirty-eight healthy children (21 males, 17 females) constituted the comparison group. Participants followed a visual target moving sinusoidally at +/- 10 degrees amplitude, horizontally and vertically at 0.25 or 0.5Hz. SP gains, the ratio of eye to target velocities, were abnormal in the CII group with nystagmus (n= 8). The number of shunt revisions (range 0-10), brain dysmorphology, or spinal lesion level (n= 15 for lower and n= 6 for upper spinal lesion level) did not correlate with SP gains. SP is impaired in children with CII and nystagmus. Abnormal pursuit might be related to the CII dysgenesis or to effects of hydrocephalus. The lack of effect of shunt revisions and abnormal tracking in participants with nystagmus provide evidence that it is related primarily to the cerebellar and brainstem malformation.

  1. Historical aspects of the study of malformations in The Netherlands.

    Science.gov (United States)

    Baljet, B; Oostra, R J

    1998-05-01

    The collection of malformed ("teratological") specimens of man and other mammals of Gerardus Vrolik (1775-1859) and his son Willem Vrolik (1801-1863), dating from the beginning of the 19th century, continues to function as a central part of the Department of Anatomy and Embryology in the Academic Medical Center at the University of Amsterdam. Recently, many specimens in the collection were reexamined, using radiographic, CT scan, and MRI methods. In order to provide background information concerning Dutch teratological research and anatomical cabinets, some aspects of the history of Dutch morphology during the 17th-19th centuries are briefly described in this paper. Special attention is paid to the scientific work and cabinet of Frederik Ruijsch (1638-1731), who sold this cabinet to Czar Peter the Great; Bernard Siegfried Albinus (1697-1770); Wouter van Doeveren (1733-1783), Andreas Bonn (1738-1818), and Sebald Justinus Brugmans (1763-1819), who sold or donated parts of their collections of malformed specimens to Leiden University; Petrus Camper (1722-1789) and Jan Bleuland (1756-1838), whose collections are still in the Department of Anatomy at Groningen University and the Departments of Anatomy and Pathology of Utrecht University; and Gerard and Willem Vrolik.

  2. Acquire uterine vascular malformation: Clinical outcome of transarterial embolization

    Energy Technology Data Exchange (ETDEWEB)

    Kang, Chae Hoon [Dept. of Radiology, Gangneung Asan Hospital, Gangneung (Korea, Republic of); Yang, Seung Boo; Goo, Dong Erk; Kim, Yong Jae; Lee, Jae Myung; Lee, Woong Hee [Dept. of Radiology, Soonchunhyang University Gumi Hospital, Gumi (Korea, Republic of)

    2017-02-15

    To evaluate clinical outcomes of transarterial embolization of bilateral uterine arteries (UAE) in patients with acquired uterine vascular malformation (UVM). This retrospective study was performed on the medical records of all 19 patients who underwent transarterial embolization of bilateral UAE for the treatment of symptomatic UVMs from January 2003 to June 2011. Embolization was performed via the unilateral femoral artery approach with a catheter and angiographic techniques. Clinical success was defined as definitive resolution of abnormal vaginal bleeding. Post-procedural complications included all adverse events related to the embolization procedure. A total of 20 procedures were performed in 19 patients. One patient required repeat embolization because of incomplete embolization related to prominent high flow malformation. Clinically, in all patients, bleeding was controlled immediately after embolization. No complications occurred in all patients during the follow up period. In all patients who underwent successful UAE, menstrual cycles were normally restored within 1-2 months. Normal pregnancy with term delivery was observed in two of the 19 cases. Transarterial bilateral UAE is a safe and effective treatment in patients with vaginal bleeding caused by acquired UVM, and it allows the possibility of future pregnancy.

  3. Prenatal diagnosis of six major cardiac malformations in Europe - A population based study

    NARCIS (Netherlands)

    Garne, E

    Aim. To present data on prenatal diagnosis of six major cardiac malformations in low-risk European populations. Methods. Data from 12 Eurocat registries on congenital malformations. All registries have multiple sources of information and use the same methods of data collection and coding. The six

  4. Essential features of Chiari II malformation in MR imaging : an interobserver reliability study-part 1

    NARCIS (Netherlands)

    Geerdink, Niels; van der Vliet, Ton; Rotteveel, Jan J.; Feuth, Ton; Roeleveld, Nel; Mullaart, Reinier A.

    2012-01-01

    Brain MR imaging is essential in the assessment of Chiari II malformation in clinical and research settings concerning spina bifida. However, the interpretation of morphological features of the malformation on MR images may not always be straightforward. In an attempt to select those features that u

  5. Persistent primitive hypoglossal artery associated with Chiari II malformation: Diagnosis and clinical implications

    Directory of Open Access Journals (Sweden)

    Gupta Mudit

    2010-01-01

    Full Text Available We present a case of persistent primitive hypoglossal artery (PPHA associated with Chiari II malformation and discuss the clinical implications. There has been one reported case of PPHA associated with Chiari 1 malformation, but none in association with Chiari II. Our patient also had a widened hypoglossal canal, with cerebrospinal fluid (CSF sac herniation through it.

  6. Essential features of Chiari II malformation in MR imaging: an interobserver reliability study--part 1.

    NARCIS (Netherlands)

    Geerdink, N.; Vliet, T. van der; Rotteveel, J.J.; Feuth, T.; Roeleveld, N.; Mullaart, R.A.

    2012-01-01

    PURPOSE: Brain MR imaging is essential in the assessment of Chiari II malformation in clinical and research settings concerning spina bifida. However, the interpretation of morphological features of the malformation on MR images may not always be straightforward. In an attempt to select those featur

  7. Significant decrease in congenital malformations in newborn infants of an unselected population of diabetic women

    DEFF Research Database (Denmark)

    Damm, P; Mølsted-Pedersen, L

    1989-01-01

    In an unselected and consecutive series of 1858 newborn infants of diabetic mothers, born in the Rigshospital, Copenhagen, in the period 1967 to 1986, congenital malformations were studied. The malformation rate in White Classes B to F was remarkably constant from 1967 to 1981, but a significant...

  8. Psychosexual Well-Being after Childhood Surgery for Anorectal Malformation or Hirschsprung's Disease

    NARCIS (Netherlands)

    Hondel, D. van den; Sloots, C.E.; Bolt, J.M.; Wijnen, R.M.H.; Blaauw, I. de; Ijsselstijn, H.

    2015-01-01

    INTRODUCTION: Anorectal malformations (ARMs) and Hirschsprung's disease (HD) are congenital malformations requiring pelvic floor surgery in early childhood, with possible sequelae for psychosexual development. AIMS: To assess psychosexual well-being in adult ARM and HD patients related to health-rel

  9. Teratogenic effects of antiepileptic drugs : Use of an international database on malformations and drug exposure (MADRE)

    NARCIS (Netherlands)

    Arpino, C; Brescianini, S; Robert, E; Castilla, EE; Cocchi, G; Cornel, MC; de Vigan, C; Lancaster, PAL; Merlob, P; Sumiyoshi, Y; Zampino, G; Renzi, C; Resano, A; Mastroiacovo, P

    2000-01-01

    Purpose: The study goal was to assess teratogenic effects of antiepileptic drugs (AEDs) through the use of a surveillance system (MADRE) of infants with malformations. Methods: Information on all malformed infants (1990-1996) with maternal first-trimester drug exposure was collected by the

  10. [Prevalence of congenital malformations at birth and associated factors in Easter Island, Chile (1988-1998)].

    Science.gov (United States)

    Aguila, A; Nazer, J; Cifuentes, L; Mella, P; de la Barra, P; Gutiérrez, D

    2000-02-01

    Consanguinity plays an important role in the genetic etiology of congenital malformations. In Easter Island the degree of consanguinity could be higher than in continental Chile. Therefore the study of the prevalence of congenital malformations in this island seems worthwhile. To study the prevalence of congenital malformations at birth in Easter Island. A review of personal and family features of all children born alive between 1988 and 1998 in the Rapa Nui Hospital of Easter Island. During the study period, 772 newborns were reviewed and 22 were found to have congenital malformations. Among the latter, birth weight fluctuated between 3001 and 4000 g and the male/female ratio was 0.54. No differences in maternal age between children with and without malformations was observed. Heart and circulatory malformations, hemangiomas and Down syndrome were the predominant malformations. The prevalence of congenital malformations at birth in Easter Island is similar to that of continental Chile. No neural tube defects were detected in this sample.

  11. Chiari I malformation with underlying pseudotumor cerebri: Poor symptom relief following posterior decompression surgery

    Directory of Open Access Journals (Sweden)

    Ahmed Alnemari

    2017-01-01

    Conclusion: This study suggests that the presence of Chiari I malformation in a patient conceals the symptoms of PTC which may become apparent following posterior decompression surgery. Other possibilities could be that the patients are misdiagnosed for Chiari I malformation when they are in fact suffering from PTC, or that PTC is a complication of surgery.

  12. Value of embolization of brain arteriovenous malformations with ethylene vinyl alcohol copolymer

    Institute of Scientific and Technical Information of China (English)

    YANG Xin-xin; SONG Lu; WU Na; LIU Zhen-guo

    2010-01-01

    @@ T° the Editor We are interested in a recent article "Embolization of brain arteriovenous malformations with ethylene vinyl alcohol copolymer: technical aspects" written by GAO et al.1 Ethylene vinyl alcohol copolymer (Onyx) is a novel liquid embolic material used to cure brain arteriovenous malformations. They performed the embolization on 115 patients and they found that the complications of the treatment are scarce.

  13. Congenital malformations of the brain: Pathological, embryological, clinical, radiological, and genetic aspects

    Energy Technology Data Exchange (ETDEWEB)

    Norman, M.G.; McGillivray, B.; Kalousek, D.K.; Hill, A.; Poskitt, K.

    1995-12-31

    Although I can quibble with the treatment of a few topics, this is by far the best book ever written on human brain malformations. The senior author has studied the pathology of human brain malformations throughout her career and has strengthened the book greatly by seeking coauthors to help with critical areas such as brain imaging, clinical management, and, especially, genetics.

  14. Spontaneous evolution of an unusual cortical malformation in SOX2 anophthalmia syndrome

    Directory of Open Access Journals (Sweden)

    Jay Desai

    2013-01-01

    Full Text Available Brain malformations such as agenesis and dysgenesis of corpus callosum, pituitary hypoplasia, hypothalamic hamartoma, mesial temporal periventricular heterotopia, and abnormally oriented and misshapen hippocampi have been described with SOX2 gene mutations. A neocortical malformation is presented here in association with SOX2 deletion that over time underwent spontaneous evolution and decrease in size.

  15. Chiari-like malformation and syringomyelia in cavalier King Charles spaniels

    NARCIS (Netherlands)

    Rusbridge, C.

    2007-01-01

    This thesis is the cumulation of over a decade of study into the pathogenesis and treatment Chiari-like malformation and syringomyelia (CM/SM) in the cavalier King Charles spaniel (CKCS). Chiari-like malformation is a condition where the brain is too big for the skull and is crushed and pushed out t

  16. A severe case of astrogliosis and encephalomalacia in a neonate with a massive vein of Galen malformation (VGM

    Directory of Open Access Journals (Sweden)

    F Ismail

    2011-06-01

    Full Text Available Vein of Galen malformations (VGMs are rare anomalies of intracranial circulation that constitute 1% of all intracranial vascular malformations. We describe a case of severe encephalomalacia associated with a VGM, which has not been previously described.

  17. PATTERN OF BABIES WITH CONGENITAL MALFORMATIONS ADMITTED IN A TERTIARY NEWBORN CARE UNIT

    Directory of Open Access Journals (Sweden)

    Saminathan

    2015-05-01

    Full Text Available AIM: To determine the pattern of congenital malformation in the neonates admitted in Mahatma Gandhi Memorial government Hospital, Trichy. METHOD: 16,672 live birth babies delivered in Mahatma Gandhi Memorial government Hospital, Trichy were screened for external congenital malformation during the study period august 2011 to august 2013. Total of 232 neonates were diagnosed have congenital malformat ions. Radiological investigations was done to confirm internal anomalies in asymptomatic neonates. RESULTS: Study showed a prevalence of major con genit al malformation to be 13.9 / 1000 live births, neural tube defects being the commonest (25%. The inciden ce is significantly high in mother of age group >35 years, increasing parity, positive family history. Congenital malformation constitutes a significant proportion of neonatal mortality. CONCLUSION: Congenital malformations are higher in mothers age group of >35 increasing parity, maternal hyperglycemia and preterm babies. Periconceptional folic acid intake is important to prevent neural tube defects.

  18. Pregnancy exposure to olanzapine, quetiapine, risperidone, aripiprazole and risk of congenital malformations. A systematic review

    DEFF Research Database (Denmark)

    Ennis, Zandra Nymand; Damkier, Per

    2015-01-01

    To review available data on first-trimester exposure to olanzapine, quetiapine, risperidone and aripiprazole and risk of congenital malformations. We performed a systematic literature search in accordance with PRISMA guidelines identifying studies containing original data on first......-trimester exposure and pregnancy outcome with respect to congenital malformations. Cumulated data for olanzapine were 1090 first-trimester-exposed pregnancies with 38 malformations resulting in a malformation rate of 3.5%. The corresponding numbers for quetiapine, risperidone and aripiprazole were 443/16 (3.6%), 432...... of congenital malformation. Data for quetiapine and risperidone do not suggest a substantially increased risk, while the risk estimate for aripiprazole remains imprecise owing to a low amount of data....

  19. Congenital malformation among newborns at Dr. Pirngadi Hospital Medan during 1981-1984.

    Science.gov (United States)

    Lubis, B; Tjipta, G D; Panjaitan, A J; Raid, N; Siregar, H

    1989-01-01

    A study on the incidence of congenital malformation had been assessed among 15,185 newborns delivered in the Neonatal Unit, Dr. Pirngadi Hospital Medan during 1981-1984. Still-births were not included in this study. Out of these 15,185 newborns there were 77 cases (0.51%) of congenital malformation. The four leading malformations were pes-equinovarus 7 cases (9.1%), labiognathopalatoschizis, hydrocephalus and anencephalus 6 cases each (7.7%). The number of congenital malformations was higher in the age group of mothers older than 35 years (0.78%) and in the group of babies born in the birth order as third and further (53.85%) and as first born babies (33.33%). From 77 cases with congenital malformation only 2 (2.56%) were operated soon after birth, while 49 cases (64.1%) went home without surgical intervention, and 28 cases (35.9%) died during hospitalization.

  20. A collection of rare anomalies: multiple digital glomuvenous malformations, epidermal naevus, temporal alopecia, heterochromia and abdominal lipoblastoma.

    Science.gov (United States)

    Hill, S; Rademaker, M

    2009-12-01

    Glomuvenous malformations are a subtype of venous malformations, which present in infancy or childhood. We describe a teenage girl who presented with multiple digital glomuvenous malformations from birth. In addition, she had an epidermal naevus on the upper lip, an area of congenital alopecia of the scalp, heterochromia irides and an abdominal lipoblastoma. We are unaware of any reports of the association of multiple glomuvenous malformations with the other uncommon developmental anomalies seen in our patient, and a common link eludes us.

  1. Malformations in a cohort of 284 women with Mayer-Rokitansky-Küster-Hauser syndrome (MRKH

    Directory of Open Access Journals (Sweden)

    Oppelt Patricia G

    2012-08-01

    Full Text Available Abstract Background The aim of this retrospective study was to describe the spectrum of genital and associated malformations in women with Mayer-Rokitansky-Küster-Hauser syndrome using evaluated diagnostic procedures and the Vagina Cervix Uterus Adnex – associated Malformation classification system (VCUAM. Methods 290 women with MRKH syndrome were clinically evaluated with using clinical examinations, abdominal and perineal/rectal ultrasound, MRI, and laparoscopy. Results Classification of female genital malformation according to the Vagina Cervix Uterus Adnex – associated Malformation classification system was possible in 284 women (97.9%. Complete atresia of Vagina (V5b and bilateral atresia of Cervix (C2b were found in 284 patients (100%. Uterus: bilateral rudimentary or a plastic uterine horns were found in 239 women (84.2%. Adnexa: normal Adnexa were found in 248 women (87.3%. Malformations: associated malformations were found in 126 of 282 evaluable women (44.7%, 84 women (29.6% had malformations of the renal system. Of 284 women with Mayer-Rokitansky-Küster-Hauser syndrome 212 women (74.7% could be classified as V5bC2bU4bA0. The most frequent classification was V5bC2bU4bA0M0 (46.8% diagnosed in 133 of 284 women. Conclusions Complete atresia of vagina and cervix were found in all patients, variable malformations were found with uterus and adnexa. A variety of associated malformations were present, predominantly of the renal system. It is therefore recommended that all patients with genital malformations should be evaluated for renal abnormalities.

  2. Cardiopulmonary malformations in the inv/inv mouse.

    Science.gov (United States)

    McQuinn, T C; Miga, D E; Mjaatvedt, C H; Phelps, A L; Wessels, A

    2001-05-01

    The inv/inv mouse carries an insertional mutation in the inversin gene, (inv, for inversion of embryonic turning). Previously it had been reported that almost 100% of the homozygous offspring (inv/inv) were characterized by situs inversus totalis. In this report we identify the spectrum of cardiopulmonary anatomical abnormalities in inv/inv mice surviving to birth to determine whether the abnormalities seen are of the categories classically associated with human situs abnormalities. Stillborn mice, offspring that died unexpectedly (within 48 hr after birth), and neonates with phenotypic characteristics of situs inversus (right-sided stomachs, growth failure or jaundice) were processed for standard histological examination. Of 173 offspring, 34 (20%) neonates (11 stillborn, 9 unexpected deaths, and 14 mice with situs inversus phenotype) were examined, 27 of which were genotyped to be inv/inv. Interestingly, three inv/inv mice (11%) were found to have situs solitus. Twenty-four had situs inversus with normal, mirror-image cardiac anatomy (dextrocardia with atrioventricular concordance, ventriculoarterial concordance and a right aortic arch). The overall incidence of cardiovascular anomalies observed was 10 out of 27 (37%). The most frequent severe malformation, identified in 3 out of 27 animals, was a complex consisting of pulmonary infundibular stenosis/atresia with absence of pulmonary valve tissue and a ventricular septal defect. The pulmonary phenotype in inv/inv mice was situs inversus with occasional minor lobar abnormalities. We conclude that 1) cardiopulmonary malformations in inv/inv mice are not rare (37%), 2) the cardiopulmonary malformations observed in inv/inv specimens are not of the spectrum typically associated with human heterotaxia. In particular, inv/inv mice have a propensity for defects in the development of the right ventricular outflow tract and the interventricular septum, and 3) approximately one out of ten inv/inv mice is born with situs

  3. Arterio-venous malformations of uterus - diagnostic and management dilemmas.

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    Narang, H K; Puri, M; Patra, S; Trivedi, S S

    2015-01-01

    Keeping in mind the life-threatening consequences of curettage in cases of undiagnosed uterine arterio-venous malformation (AVM), its possibility should be considered in patients presenting with abnormal heavy uterine bleeding and negative Human Chorionic Gonadotropin (β-hCG) values. We collected a series of cases in which the patients presented with abnormal heavy uterine bleeding, some not responding to conservative treatment. In the presence of declining or low serum β-hCG levels and ultrasound Doppler showing increased vascularity, patients were investigated to detect the possible presence of uterine AVM. In those patients in whom angiographic confirmation of uterine AVM was made, embolisation was done and the outcome was followed. In those patients in whom hysterectomy was done the histopathogy specimen was studied for the possible cause of increased vascularity. Arterio-venous shunting seen on ultrasound does not always imply a uterine AVM and some cases can present diagnostic and management dilemmas.

  4. Partially trombosed glomus type spinal arteriovenous malformation – case presentation

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    Gorgan M.R.

    2014-12-01

    Full Text Available Spinal AVM are very rare vascular lesions and most o the studies give reports on only a few cases. Given their localization between the spinal tracts and the gray matter core of the medulla and their multiple feeders from posterior and anterior spinal arteries they are amongst the most difficult surgical pathology in the nervous sistem. We present the case of a 60 years old male with a glomus type T10-L2 spinal AVM that presented with motor deficit in the lower limbs and urinary incontinence. The partially thrombosed lesion was completely resected without previous embolisation, and the patient was walking with assistance at discharge. This is a rare case that presented with progressive neurological deterioration consistent with an ischemic rather than a hemorrhagic event. Microsurgery is a better option than conservative treatment in these rare cases of spontaneous occlusion of intramedullary arteriovenous malformations.

  5. Experimental model of arteriovenous malformation in vitro using biological grafts

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    Sandu Aurelia Mihaela

    2015-06-01

    Full Text Available Introduction: Brain arteriovenous malformations (AVMs represent a serious health problem all around the world. Experimental models help to better understand the pathophysiology of these lesions. Experiment: We performed an experimental model of AVM using biological grafts, arteries and veins harvested from chicken wings at the elbow joint. We used 14 vessels and we performed 20 end-to-end anastomoses to create a nidus with a single feeding artery and a single draining vein. The system was irrigated with colored solution. The experiment was done according with law in force regarding experimental research activity. Conclusions: Experimental models allow us to understand the hemodynamics and predict the outcome of brain AVMs in humans. This experimental model is a useful tool in understanding the hemodynamic properties of brain AVMs. It is very useful in vascular anastomosis training

  6. [Diagnosis of uterine vascular malformation using Doppler ultrasound].

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    Deckner, C; Schiesser, M; Bastert, G

    2004-04-01

    We present the case of a 56-year-old woman, who was admitted to our clinic for diagnostic laparoscopy because of a cystic uterine tumour of uncertain dignity. In the patient's history three curettages due to recurrent acyclic premenopausal vaginal bleeding were reported without specific histological findings. The preceding MRI described the structure as a myoma. During preoperative diagnostics an arteriovenous malformation was suspected by transvaginal Doppler sonography. Consequently the procedure was changed and a laparotomy performed. The sonographic findings were confirmed during surgery and by histological examination. This case points out the important role of transvaginal sonography combined with colour-flow-mapping. By confirming the diagnosis preoperatively and changing the management a low-risk procedure could be ensured.

  7. Periodontal manifestations and management of a patient with AV malformation

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    Sumit Narang

    2012-01-01

    Full Text Available Arterio-venous malformation (AVM is an abnormal communication between an artery and a vein. The incidence of its occurrence in oral and maxillofacial region is rare, and if present, the most common sign is gingival bleeding. A 12-year-old female patient presented with an extra oral swelling in relation with upper lip. Intra oral examination showed non tender gingival swelling with spontaneous bleeding associated with maxillary arch. On initiation of phase I therapy using hand instruments, spontaneous brisk bleeding was encountered which was difficult to control. Because of severe nature of hemorrhage encountered, some type of vascular abnormality was suspected. Ultrasonography followed by angiography confirmed AVM in relation with upper lip. Embolization of lesion was followed by gingivectomy procedure and no recurrence was reported during one year of follow-up. Thus, proper recognition and therapeutic intervention is essential to avoid serious complications and potentially tragic outcome in such situations.

  8. Medical image of the week: pulmonary arteriovenous malformations

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    Stawter C

    2014-10-01

    Full Text Available A 34 year old woman presented to the clinic with exertional dyspnea since childhood. Oxygen saturations in clinic were 92% on room air. On review of systems she admitted to recurrent epistaxis and her daughter also suffered from frequent epistaxis. Bubble contrast echocardiography showed severe right to left shunting without evidence of intracardiac shunt (Figure 1. Computed tomography angiogram of the chest revealed multiple bilateral arteriovenous malformations (AVM’s, the largest measuring 9mm on coronal images (Figure 2. MRI brain was negative for AVM’s. She was referred to interventional radiology for microcoil embolization. She met two of four Curaçao criteria for the diagnosis of hereditary hemorrhagic telangiectasia (HHT, giving her “possible HHT”. She was referred for genetic testing to confirm the diagnosis.

  9. Type II congenital cystic pulmonary malformation in an esophageal lung.

    Science.gov (United States)

    Martínez-Martínez, Blanca E; Furuya, María Elena Yuriko; Martínez-Muñiz, Irma; Vargas, Mario H; Flores-Salgado, Rosalinda

    2013-01-01

    A seven-month-old girl, born prematurely (birth weight 1000 g) from a twin pregnancy, was admitted to hospital due to recurrent pneumonia and atelectasis. She experienced cough and respiratory distress during feeding. The right hemithorax was smaller than the left, with diminished breath sounds and dullness. Chest x-rays revealed decreased lung volume and multiple radiolucent images in the right lung, as well as overdistention of the left lung. An esophagogram revealed three bronchial branches arising from the lower one-third of the esophagus, corresponding to the right lung and ending in a cul-de-sac. A diagnosis of esophageal lung was established. On bronchography, the right lung was absent and the trachea only continued into the left main bronchus. Echocardiography and angiotomography revealed agenesis of the pulmonary artery right branch. The surgical finding was an esophageal right lung, which was removed; the histopathological diagnosis was type II congenital pulmonary airway malformation in an esophageal lung.

  10. Spondylocarpotarsal synostosis syndrome: MRI evaluation of vertebral and disk malformation

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    Breitling, Magnus; Rabin, Michael [University of Saskatchewan, Department of Medical Imaging, Saskatoon, Saskatchewan (Canada); Lemire, Edmond G. [University of Saskatchewan, Division of Medical Genetics, Department of Pediatrics, Saskatoon (Canada)

    2006-08-15

    Spondylocarpotarsal synostosis syndrome (SSS) is a rare autosomal recessive condition characterized primarily by vertebral malsegmentation, carpal/tarsal coalition, and a dysmorphic appearance. Differentiating SSS from other congenital scoliosis syndromes requires evaluation of the vertebrae, ribs, soft tissues, and spinal cord. The enhanced resolution over plain radiographs seen with MRI allows more detailed assessment of vertebral malformation and surrounding anatomy. Diagnosis of the underlying cause of congenital scoliosis might be enhanced using this technology. We report on a 12-year-old girl of unaffected parents with SSS who was evaluated with MRI sequences of the spine to show various types of malsegmentation. Additionally, there is the new finding of fusion of teeth, with developmental failure of a canine incisor. (orig.)

  11. Spontaneous Regression of Uterine Arteriovenous Malformations with Conservative Management

    Science.gov (United States)

    Oishi, Sugiko; Akamine, Kozue; Heshiki, Chiaki

    2017-01-01

    Uterine arteriovenous malformation (AVM) can cause massive hemorrhage and is often treated with uterine artery embolization (UAE), which may lead to ovarian insufficiency. Thus, avoiding UAE should be considered, particularly in women undergoing fertility treatments. We present three women diagnosed with postmiscarriage AVM on color Doppler by transvaginal ultrasound imaging. They had no genital bleeding and a small mass, measuring 16–22 mm. If estradiol was >300 pg/mL when AVM was diagnosed, then a gonadotropin-releasing hormone agonist was administered. All three women underwent follow-up observation, revealing spontaneous mass disappearance. To avoid ovarian insufficiency risk with UAE, conservative management and close follow-up observation should be considered in patients with AVM without bleeding, particularly during the fertility treatment. PMID:28299220

  12. Suspected fetal skeletal malformations or bone diseases: how to explore

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    Cassart, Marie [Erasme Hospital, Medical Imaging, Brussels (Belgium)

    2010-06-15

    Skeletal dysplasias are a heterogeneous and complex group of conditions that affect bone growth and development and result in various anomalies in shape and size of the skeleton. Although US has proved reliable for the prenatal detection of skeletal abnormalities, the precise diagnosis of a dysplasia is often difficult to make before birth (especially in the absence of a familial history) due to their various phenotypic presentations, the variability in the time at which they manifest and often, the lack of precise molecular diagnosis. In addition to the accuracy of the antenatal diagnosis, it is very important to establish a prognosis. This is a clinically relevant issue as skeletal dysplasias may be associated with severe disability and may even be lethal. We will therefore describe the respective role of two-dimensional (2-D) US, three-dimensional (3-D) US and CT in the antenatal assessment of skeletal malformations. (orig.)

  13. A girl with sternal malformation/vascular dysplasia association

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    Na Yong Lee

    2013-03-01

    Full Text Available Sternal malformation/vascular dysplasia association is a rare congenital dysmorphology, which has not yet been reported in Korea. Its typical clinical features include a sternal cleft covered with atrophic skin, a median abdominal raphe extending from the sternal defect to the umbilicus, and cutaneous craniofacial hemangiomata. We report a case of a full-term newborn who presented with no anomalies at birth, except for a skin defect over the sternum and a supraumbilical raphe. Multiple hemangiomas appeared subsequently on her chin and upper chest wall, and respiratory distress due to subglottic hemangioma developed during the first 2 months of life. Her symptoms were controlled with oral prednisolone administration. No respiratory distress have recurred during the 3-year follow-up period.

  14. A giant frontal cavernous malformation with review of literature

    Science.gov (United States)

    Sharma, Arvind; Mittal, Radhey Shyam

    2016-01-01

    Cavernous malformations (CMs) are vascular anomalies with dilated spaces called caverns. These spaces are lined by endothelial cells and collage and devoid of smooth muscle or intervening neural tissue, and filled with blood at various stages of stasis, thrombosis, organization, and calcification. Most CMs are relatively small in size but when they are large enough they can produce sing of mass effect and may simulate neoplastic, vascular, inflammatory pathology. Giant CM (size >6 cm) are very rare lesions and very few cases are reported in world literature. We are reporting such a rare case of a 16 year male. Our case is also unique in the sense that it is the largest reported CM in Indian population. PMID:27114662

  15. Intestinal arteriovenous malformation involving the descending colon: a case report

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    Lee, Eun Jin; Park, Young Chan; Lee, Young Hwan; Jung, Kyung Jae; Kim, Ho Kyun [Catholic University of Daegu, Daegu (Korea, Republic of)

    2007-08-15

    Arteriovenous malformations (AVMs) comprising a feeding artery, nidus, and draining vein rarely develop in the gastrointestinal tract. Although almost all AVMs are asymptomatic, they cause massive painless rectal bleeding and subsequent chronic anemia. The definitive diagnosis of AVM is achieved by selective mesenteric angiography, and surgical resection is the treatment of choice. We detected an intestinal AVM involving the descending colon in a patient with severe hematochezia. The diagnosis was made by CT angiography performed using a 64-channel MDCT and the obtained 3D reconstruction images. The AVM showed an extensive vascular network on CT images, and it was treated by surgical resection. Here, we report this case of an intestinal AVM along with its imaging findings.

  16. Kernohan's phenomenon associated with left ruptured occipital arteriovenous malformation.

    Science.gov (United States)

    Fujimoto, A; Sato, H; Katayama, W; Nakai, K; Tsunoda, T; Kobayashi, E; Nose, T

    2004-05-01

    A 23-year-old woman presented with ipsilateral hemiparesia due to rupture of a left occipital arteriovenous malformation (AVM). Emergency decompression (the onset-operation interval was 46 minutes,) was carried out and the patient could leave the hospital upon recovery without neurological deficits. In general, Kernohan's phenomenon is caused by the gradual displacement of the cerebral peduncle against the tentorial edge caused by compression by the contralateral mass. This phenomenon is very rare among the cases with spontaneous intracranial hemorrhage and only three cases including the present one have been reported in the literature. In all cases the onset-operation intervals of were very short. Kernohan's phenomenon associated with a ruptured AVM is a rare condition and emergency decompression is required.

  17. Focal malformations of cortical development: new vistas for molecular pathogenesis.

    Science.gov (United States)

    Lim, K-C; Crino, P B

    2013-11-12

    Focal malformations of cortical development (FMCD) are highly associated with several neurological disorders including intractable epilepsy and neurocognitive disabilities. Over the past decade, several FMCD subtypes have been linked to hyperactivation of the mammalian target of rapamycin (mTOR) signaling cascade. In view of the roles that mTOR plays in cell proliferation, size, motility, and stem cell phenotype, many of the features of FMCD such as cytomegaly, disorganized lamination, and expression of stem cell markers can be explained by enhanced mTOR signaling. FMCD result from several distinct and fascinating molecular mechanisms including biallelic gene inactivation, somatic mutation, and potentially, viral infection. These mechanisms have been directly linked to mTOR activation. Perhaps most compelling, pharmacological inhibition of mTOR has been implemented successfully in clinical trials for select FMCD and provides a new vista for treatment. Copyright © 2013 IBRO. Published by Elsevier Ltd. All rights reserved.

  18. Non-operative outcomes in Chiari I malformation patients.

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    Killeen, Amy; Roguski, Marie; Chavez, Alexis; Heilman, Carl; Hwang, Steven

    2015-01-01

    While postoperative outcomes of Chiari I malformation patients have been well-reported, there is a paucity of literature concerning non-operative management in these patients. We retrospectively identified patients with Chiari I malformation who were not recommended for surgery based on lack of clinical objective findings or inconsistent cough headaches and conducted patient follow-up with a prospective telephone survey. Of the 68 patients (mean age at diagnosis 30.1 ± 17.4 years), 72% were female and 31% were pediatric patients (age at diagnosis ⩽ 18 years). Average follow up was 4.9 ± 2.9 years. Typical presenting symptoms included cough headache, non-specific headache, nausea, ataxia, dysphagia and paresthesias. Overall, 40% of patients who had cough headaches and 61.5% of patients with non-specific headaches reported improvement. The presence of subjective sensory symptoms was significantly associated with less likelihood of cough headache improvement while the presence of a cough headache was also associated with a lower likelihood of improvement in all non-cough symptoms. The pediatric subgroup had a greater rate of improvement with all cases of nausea/emesis and paresthesias improved or resolved at follow-up. Overall 67% of pediatric patients had improved cough headache and 71% had improvement of migraines/diffuse headaches. We found that many symptoms of Chiari I patients from our conservatively managed cohort either improved or remained unchanged over time. However, the presence of cough headaches was a significant negative predictor of concomitant symptom improvement. This further validates the view that patients with cough headaches should be considered for surgical intervention and provides useful information to counsel patients.

  19. Intraoperative Micro-Doppler in Cerebral Arteriovenous Malformations.

    Science.gov (United States)

    Burkhardt, Till; Siasios, Giannis; Schmidt, Nils Ole; Reitz, Mathias; Regelsberger, Jan; Westphal, Manfred

    2015-11-01

    Intraoperative micro-Doppler (IOMD), intraoperative digital substraction angiography (DSA), and microscope-integrated indocyanine green angiography are methods that guide neurosurgical resection of arteriovenous malformations (AVMs) in the brain and minimize the trauma of healthy tissue. In this study we emphasize the use of IOMD in AVM surgery, analyzing the advantages and the limitations of this method. Patients and A total of 32 patients were diagnosed with an AVM. Supplying arteries and draining veins were analyzed regarding hemodynamic profiles, flow velocities, pulsatility index (PI), and resistance index (RI). Venous drainages were accompanied by arterial blood flow disturbances that showed typical characteristics in all cases. We set an angle of 60 degrees between the examined vessel and the probe to achieve a more reliable and comparable measurement. Postoperative DSA was performed in all patients. Supplying arterial blood vessels of AVMs could be identified by their characteristic blood flow profiles with PI < 0.7 and RI < 0.55. Drainage veins in all 32 cases showed normalized venous flow patterns without arterial flow turbulences at the end of the surgical procedure. Postoperative DSA revealed a residual AVM in one patient. IOMD constitutes a safe, accurate, and low-cost imaging modality for evaluating blood flow velocities and for optimal stepwise AVM elimination without unnecessary sacrifice of veins. PI and RI are reliable parameters in diagnosing cerebrovascular malformations, but systolic and diastolic flow velocities may vary to a greater extent. This phenomenon has never been elucidated previously and therefore needs to be emphasized when using this technique intraoperatively. Georg Thieme Verlag KG Stuttgart · New York.

  20. [Malformation syndromes in the spanish literature: The first descriptions].

    Science.gov (United States)

    García Nieto, V; Zafra Anta, M; Bassat, Q; de Arana Amurrio, J I; Fernández Menéndez, J M; Fernández Teijeiro, J J; Gorrotxategi Gorrotxategi, P J; Ponte Hernando, F

    2013-12-01

    Malformation or dysmorphic syndromes are conditions that are defined by the combination of a set of major and minor malformations that generally have a genetic origin. We investigated the early Spanish descriptions of a large number of sydromes. We started the study from the definition in a classic treatise on the subject. Among the 60 selected syndromes studied, at least two articles of each syndrome among those published in Spain and for the first time were listed in the Spanish Medical Index. For years prior to 1970, it expanded The search was expanded to PubMed, for the years before 1970. We collected 64 articles that referred to 58 syndromes. Four articles were written during the first half of the twentieth century. Almost half of the works (n=30) appeared in the 1970's. The papers were published in ten Spanish pediatric, nine Spanish non-pediatric, three pediatric non-Spanish and two non-Spanish non-pediatric Journals. The Journals with the most articles published were Anales de Pediatría y Revista Española de Pediatría. The hospitals where the articles originate more often were Hospital La Paz, Madrid and Hospital Clinic, Barcelona. The rest of the works were written in 30 pediatric hospitals and two more in non-Spanish hospitals. The number of authors increased with the passage of time. Although there were potential limitations, we have identified what may be the first descriptions of 58 syndromes, among the 60 chosen initially. Copyright © 2012 Asociación Española de Pediatría. Published by Elsevier Espana. All rights reserved.

  1. Magnetic Resonance Perfusion Imaging in Malformations of Cortical Development

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    Widjaja, ED.; Wilkinson, I.D.; Griffiths, P.D. [Academic Section of Radiolog y, Univ. of Sheffield, Sheffield (United Kingdom)

    2007-10-15

    Background: Malformations of cortical development vary in neuronal maturity and level of functioning. Purpose: To characterize regional relative cerebral blood volume (rCBV) and difference in first moment transit time (TTfm) in polymicrogyria and cortical tubers using magnetic resonance (MR) perfusion imaging. Material and Methods: MR imaging and dynamic T2*-weighted MR perfusion imaging were performed in 13 patients with tuberous sclerosis complex, 10 with polymicrogyria, and 18 controls with developmental delay but no macroscopic brain abnormality. Regions of interest were placed in cortical tubers or polymicrogyric cortex and in the contralateral normal-appearing side in patients with malformations. In 'control' subjects, regions of interest were placed in the frontal and parietal lobes in both hemispheres. The rCBV and TTfm of the tuber/contralateral side (rCBVRTSC and TTFMTSC) as well as those of the polymicrogyria/contralateral side (rCBVRPMG and TTFMPMG) were assessed. The right-to-left asymmetry of rCBV and TTfm in the control group was also assessed (rCBVRControls and TTFMControls). Results: There was no significant asymmetry between right and left rCBV or TTfm (P>0.05) in controls. There was significant reduction in rCBVRTSC compared to rCBVRControls (P<0.05), but no significant difference in TTFMTSC compared to TTFMControls (P>0.05). There were no significant differences between rCBVRPMG and rCBVRControls (P>0.05) or TTFMPMG and TTFMControls (P>0.05). Conclusion: Our findings imply that cerebral blood volume of polymicrogyria is similar to normal cortex, but there is reduced cerebral blood volume in cortical tubers. The lower rCBV ratio of cortical tubers may be related to known differences in pathogenetic timing of the underlying abnormalities during brain development or the presence of gliosis.

  2. Prevalence of malformed frogs in Kaoping and Tungkang river basins of southern Taiwan.

    Science.gov (United States)

    Huang, Da-Ji; Chiu, Yuh-Wen; Chen, Chien-Min; Huang, Kai-Hsiang; Wang, Shu-Yin

    2010-05-01

    In this study we found many amphibians with bizarre appearances, known as malformations in Pingtung County southern Taiwan. For this investigation we collected frogs inhabiting the Kaoping and Tungkang river watersheds between February 2006 and June 2007. Among the total number of 10,909 normal frogs (i.e., anurans) collected during the investigation period, the Indian rice frogs (Rana limnocharis) account for the greatest number next is the Chinese bullfrog (Rana rugulosa). Of all the 244 captured malformed frogs, the Indian rice frog account for the greatest proportion. These malformed frogs have their main distribution in upstream areas of these two rivers. Our result indicates that the appearance rate of malformed frogs is 1.8% in the upstream reaches of the Kaoping River and 2.6%, and 0.8%, respectively in the upstream and midstream reaches of the Tungkang river. The most-commonly-found malformation is the lack of palms, followed by the lack of appendages, exostosis, and a malformed appendicular. It is, therefore, reasonable to speculate that the causes for the malformation may be related to the increased organic pollutants and agricultural chemicals used in the upstream reaches of these two rivers.

  3. Study of Congenital Malformations in Central Nervous System AND Gastro- Intestinal Tract

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    Saiyad SS

    2012-04-01

    Full Text Available Introduction: Congenital malformations comprise 8% of the perinatal mortality in India. They rank fifth as a cause of perinatal mortality, after asphyxia, respiratory problems, infections and cerebral trauma. However, the pattern is changing rapidly with improvement in health care and living standards. Material & Method: In the present study, authors have tried to study the cases of congenital malformations specially related to Central nervous system and Gastro-intestinal system. 5240 cases of newborn babies were studied and results were analyzed and classified in to various categories. Findings: The results show that malformations are more common in still birth, more in female babies and more in central nervous system In live born babies the percentage of malformation is0.63 % whereas in still born baby it is6.53 %. Conclusions: Chances of having malformations increases as the age advances. Parity of mother also influences the incidence. Exposure to radiation & drugs also influences malformations. Incidence of congenital malformation is highest in central nervous system. [National J of Med Res 2012; 2(2.000: 121-123

  4. Lack of evidence of WNT3A as a candidate gene for congenital vertebral malformations

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    Jacobsen F Stig

    2007-09-01

    Full Text Available Abstract Background Prior investigations have not identified a major locus for vertebral malformations, providing evidence that there is genetic heterogeneity for this condition. WNT3A has recently been identified as a negative regulator of Notch signaling and somitogenesis. Mice with mutations in Wnt3a develop caudal vertebral malformations. Because congenital vertebral malformations represent a sporadic occurrence, linkage approaches to identify genes associated with human vertebral development are not feasible. We hypothesized that WNT3A mutations might account for a subset of congenital vertebral malformations. Methods A pilot study was performed using a cohort of patients with congenital vertebral malformations spanning the entire vertebral column was characterized. DNA sequence analysis of the WNT3A gene in these 50 patients with congenital vertebral malformations was performed. Results A female patient of African ancestry with congenital scoliosis and a T12-L1 hemivertebrae was found to be heterozygous for a missense variant resulting in the substitution of alanine by threonine at codon 134 in highly conserved exon 3 of the WNT3A gene. This variant was found at a very low prevalence (0.35% in a control population of 443 anonymized subjects and 1.1% in an African population. Conclusion These data suggest that WNT3A does not contribute towards the development of congenital vertebral malformations. Factors such as phenotypic and genetic heterogeneity may underlie our inability to detect mutations in WNT3A in our patient sample.

  5. Congenital malformations according to etiology in newborns from the floricultural zone of Mexico state.

    Science.gov (United States)

    Castillo-Cadena, Julieta; Mejia-Sanchez, Fernando; López-Arriaga, Jerónimo Amado

    2017-01-25

    Birth defects are the number one cause of child mortality worldwide and in 2010 it was the second cause in Mexico. Congenital malformations are a public health issue, because they cause infant mortality, chronic disease and disability. The origin can be genetic, environmental or unknown causes. Among environmental contaminants, pesticides stand out. In this study, we determine the frequency and etiology of congenital malformations in newborns (NBs) of a floricultural community and we compare it with that in the urban community. For 18 months, the NBs were monitored at the Tenancingo General Hospital and the Mother and Child Gynecology and Obstetrics Hospital (IMIEM) in Toluca. The identification of these malformations was carried out in accordance with the WHO. In Tenancingo, 1149 NBs were viewed, where 20% had some kind of congenital malformations. While in the IMIEM, 5069 were reviewed and 6% had some malformation. According to the etiology, in Tenancingo, 69% were multifactorial, 28% were monogenetic and 2% were chromosomal. In the IMIEM, 47% were multifactorial, then 18.3% were monogenetic and 2.8% were chromosomal. There was a significant difference between the global frequency of malformations and the multifactorial etiology of both institutions. Our results show that congenital malformations in the NBs occurred more frequently in the floricultural zone and that because the percentage of multifactorial etiology is higher, it is likely there is an association with exposure to pesticides.

  6. Cardiovascular Malformations in CHARGE Syndrome with DiGeorge Phenotype: Two Case Reports

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    Kazushi Yasuda

    2016-01-01

    Full Text Available Both CHARGE syndrome and DiGeorge anomaly are frequently accompanied by cardiovascular malformations. Some specific cardiovascular malformations such as interrupted aortic arch type B and truncus arteriosus are frequently associated with 22q11.2 deletion syndrome, while conotruncal defects and atrioventricular septal defects are overrepresented in patients with CHARGE syndrome. CHD7 gene mutation is identified in approximately two-thirds of patients with CHARGE syndrome, and chromosomal microdeletion at 22q11.2 is found in more than 95% of patients with 22q11.2 deletion syndrome. CHARGE syndrome is occasionally accompanied by DiGeorge phenotype. We report two patients with dysmorphic features of both CHARGE syndrome and 22q11.2 deletion syndrome. Although both of the two cases did not have 22q11.2 deletion, they had typical dysmorphic features of 22q11.2 deletion syndrome including cardiovascular malformations such as interrupted aortic arch type B. They also had characteristic features of CHARGE syndrome including ear malformation, genital hypoplasia, limb malformation, and endocrinological disorders. CHD7 gene mutation was confirmed in one of the two cases. When a patient with cardiovascular malformations frequently associated with 22q11.2 deletion syndrome does not have 22q11.2 deletion, we suggest that associated malformations characteristic of CHARGE syndrome should be searched for.

  7. Management of cerebral cavernous malformations in the pediatric population: a literature review and case illustrations.

    Science.gov (United States)

    Kosnik-Infinger, L; Carroll, C; Greiner, H; Leach, J; Mangano, F T

    2015-09-01

    Cavernous malformations (CM) are vascular malformations of the central nervous system that may occur in the brain and spinal cord. They are one of the four major types of vascular malformations that also includes developmental venous anomalies (DVA)s, arteriovenous malformations (AVMs), and capillary telangiectasias. CMs are a common vascular malformation, and 25% of them occur in the pediatric age group. They can present with acute or chronic symptoms including headache, neurologic deficits secondary to hemorrhage, mass effect, or epilepsy. This review will focus on the neurosurgical management of intracranial cavernous malformations in children. Pediatric CMs have special considerations different from CM that occur in the adult population which are highlighted throughout this review. Characteristics specific to pediatric CM epidemiology, genetics, presentation, pathology, location, size, epilepsy, and management will be discussed. Specific considerations must be entertained with the diagnosis of pediatric CM in that management needs to include consideration of the lifetime risk of hemorrhage, as well as the possibility of development of epilepsy. If in an accessible location, most cavernomas should be surgically removed in a timely fashion to provide lifelong cure for pediatric patients. The review closes with the discussion of two interesting cavernous malformation cases occurring in a 12-year old male and a 12-year old female that exhibit many of the important aspects specific to the management of a pediatric patient with CM, highlighting the importance of a multidisciplinary approach to treatment.

  8. Association of Chiari malformation and vitamin B12 deficit in a family.

    Science.gov (United States)

    Welsch, Melanie; Antes, Sebastian; Kiefer, Michael; Meyer, Sascha; Eymann, Regina

    2013-07-01

    A clear etiology of Chiari malformation is still lacking. Some associations between this disorder and genetical variations have been reported. Documented cases of familial Chiari malformation in three consecutive generations are rare. Furthermore, an association of Chiari disorder and vitamin B12 deficit has rarely been described in literature. In this study, three generations of a family suffering from Chiari 1 or Chiari 0 malformation have been examined with MRI, clinically and laboratory (hemograms). Chiari malformation could be confirmed in all presented patients: While the F2 generation (children: 1 × ♀, 1 × ♂) and the female F1 generation (mother and sister of mother) suffered from Chiari type 1, the male F0 generation showed Chiari 0 malformation. F0 and F1 generation further presented with syringomyelia (F0: C4-D1; F1: C4-D2). All patients except the grandfather (F0) underwent surgical posterior fossa decompression to relive successfully cerebellar and hydrocephalus associated progressing clinical symptoms. The hemograms of generation 1 and 2 revealed familial vitamin B12 deficit. A hereditary component is discussed in Chiari malformation, yet proved etiology is still lacking. As folic acid plays an important role in the development of the neural tube, vitamin B12 deficit might have some impact on the development of Chiari malformations.

  9. First approximation to congenital malformation rates in embryos and hatchlings of sea turtles.

    Science.gov (United States)

    Bárcenas-Ibarra, Annelisse; de la Cueva, Horacio; Rojas-Lleonart, Isaias; Abreu-Grobois, F Alberto; Lozano-Guzmán, Rogelio Iván; Cuevas, Eduardo; García-Gasca, Alejandra

    2015-03-01

    Congenital malformations in sea turtles have been considered sporadical. Research carried out in the Mexican Pacific revealed high levels of congenital malformations in the olive ridley, but little or no information is available for other species. We present results from analyses of external congenital malformations in olive ridley, green, and hawskbill sea turtles from Mexican rookeries on the Pacific coast and Gulf of Mexico. We examined 150 green and hawksbill nests and 209 olive ridley nests during the 2010 and 2012 nesting seasons, respectively. Olive ridley eggs were transferred to a hatchery and incubated in styrofoam boxes. Nests from the other two species were left in situ. Number of eggs, live and dead hatchlings, and eggs with or without embryonic development were registered. Malformation frequency was evaluated with indices of prevalence and severity. Mortality levels, prevalence and severity were higher in olive ridley than in hawksbill and green sea turtles. Sixty-three types of congenital malformations were observed in embryos, and dead or live hatchlings. Of these, 38 are new reports; 35 for wild sea turtles, three for vertebrates. Thirty-one types were found in hawksbill, 23 in green, and 59 in olive ridley. The head region showed a higher number of malformation types. Malformation levels in the olive ridley were higher than previously reported. Olive ridleys seem more prone to the occurrence of congenital malformations than the other two species. Whether the observed malformation levels are normal or represent a health problem cannot be currently ascertained without long-term assessments. © 2015 Wiley Periodicals, Inc.

  10. Interhemispheric Lipoma, Callosal Anomaly, and Malformations of Cortical Development: A Case Series.

    Science.gov (United States)

    Niwa, Tetsu; de Vries, Linda S; Manten, Gwendolyn T R; Lequin, Maarten; Cuppen, Inge; Shibasaki, Jun; Aida, Noriko

    2016-04-01

    Intracranial lipomas are rare congenital malformations. The most common type of intracranial lipoma is the interhemispheric lipoma, which is frequently associated with callosal anomalies such as hypogenesis or agenesis of the corpus callosum. In contrast, interhemispheric lipomas are less often accompanied with malformations of cortical development (MCD). We report magnetic resonance imaging findings of three infants with an interhemispheric lipoma, associated with a callosal anomaly, and MCD: two infants with nodular interhemispheric lipoma, agenesis of the corpus callosum, and polymicrogyria, and one infant with interhemispheric curvilinear lipoma, hypoplasia of the corpus callosum, and heterotopias. An association was suggested regarding the occurrence of these malformations.

  11. Arnold Chiari Malformation With Sponastrime (Spondylar and Nasal Changes, With Striations of the Metaphyses) Dysplasia

    Science.gov (United States)

    Jeong, Je Hoon; Lee, A Leum; Cho, Sung Yoon; Jin, Dong Kyu; Im, Soo-Bin

    2016-01-01

    Abstract SPOndylar and NAsal changes, with STRIations of the Metaphyses (SPONASTRIME) dysplasia (SD) is a dwarfing autosomal recessive syndrome, characterized by a variety of clinical and radiographic features, which form the basis for diagnosis. We describe the presentation of an Arnold Chiari malformation in a patient with a clinical diagnosis of SD. The malformation was successfully treated by decompression of the foramen magnum and elevation of the cerebellum, with complete resolution of pain. We report a rare case of Arnold Chiari malformation in a patient presenting with clinical and radiographic features strongly suggestive of SD and be successfully treated. PMID:27149441

  12. Arterial desaturation due to pulmonary arteriovenous malformations after the Kawashima Operation

    Directory of Open Access Journals (Sweden)

    Rohit S Loomba

    2016-01-01

    Full Text Available Arterial desaturation may occur after the Kawashima procedure and, in the absence of venovenous collaterals is usually due to pulmonary arteriovenous malformations. Stenting of the pulmonary arteries, oxygen therapy, and pulmonary vasodilators such as sildenafil have not been able to resolve the arterial desaturation and the only way to do this has been Fontan completion. The time course of the formation of these malformations after the Kawashima and the progression of cyanosis and its resolution after the Fontan has only been demonstrated in case reports and small case series. We pool the available data to model arterial saturations in patients with pulmonary arteriovenous malformations after the Kawashima procedure.

  13. Management of Low-Flow Vascular Malformations: Clinical Presentation, Classification, Patient Selection, Imaging and Treatment

    Energy Technology Data Exchange (ETDEWEB)

    McCafferty, Ian, E-mail: ian.mccafferty@uhb.nhs.uk [Queen Elizabeth Hospital Birmingham (QEHB) & Birmingham Children’s Hospital (BCH) (United Kingdom)

    2015-10-15

    This review article aims to give an overview of the current state of imaging, patient selection, agents and techniques used in the management of low-flow vascular malformations. The review includes the current classifications for low-flow vascular malformations including the 2014 updates. Clinical presentation and assessment is covered with a detailed section on the common sclerosant agents used to treat low-flow vascular malformations, including dosing and common complications. Imaging is described with a guide to a simple stratification of the use of imaging for diagnosis and interventional techniques.

  14. Multiple de novo vascular malformations in relation to diffuse venous occlusive disease: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Desal, H.A. [Hopital Laennec, University of Nantes, Department of Neuroradiology, Nantes (France); Toronto Western Hospital, Department of Medical Imaging, University Health Network, Toronto, Ont. (Canada); Lee, S.K.; Kim, B.S.; TerBrugge, K.G. [Toronto Western Hospital, Department of Medical Imaging, University Health Network, Toronto, Ont. (Canada); Raoul, S.; Tymianski, M. [Toronto Western Hospital, Department of Neurosurgery, University Health Network, Toronto, Ont. (Canada)

    2005-01-01

    Brain vascular malformations are dynamic disorders. Although mostly considered to be of congenital origin, the improvement of clinical imaging and vasculogenesis knowledge has shown that they might also result from a biological dysfunction of the remodeling process after birth. Venous occlusive disease and ishemia may represent powerful revealing triggers and support the capillary venous origin of some vascular malformations. We report a unique case of the development of multiple de novo vascular malformations (transverse sinus dural fistula and posterior fossa cavernomas) following acoustic neuroma surgery. (orig.)

  15. A rare course of scoliosis associated with Chiari malformation and syringomyelia.

    Science.gov (United States)

    Tanaka, Masato; Sugimoto, Yoshihisa; Arataki, Shinya; Takigawa, Tomoyuki; Ozaki, Toshifumi

    2014-01-01

    Spinal deformity is an important clinical manifestation of Chiari I malformation (CM-I) and syringomyelia. Here we report the result of an 8-year follow-up of a 13-year-old girl with severe scoliosis associated with Chiari malformation and a large syringomyelia. The patient presented at our hospital at the age of 13 with a 68° scoliosis. Magnetic resonance imaging showed Chiari malformation and a large syringomyelia. Neurosurgical treatment involved foramen magnum decompression and partial C1 laminectomy, but the scoliosis still progressed. We present the first case report of a rare course of scoliosis in a patient with CM-I and a large syringomyelia.

  16. High anorectal malformation in a five-month-old boy: a case report

    Directory of Open Access Journals (Sweden)

    Pandey Anand

    2010-08-01

    Full Text Available Abstract Introduction Anorectal malformation, one of the most common congenital defects, may present with a wide spectrum of defects. Almost all male patients present within first few days of life. Case presentation A five-month-old baby boy of Indian origin and nationality presented with anal atresia and associated rectourethral prostatic fistula. The anatomy of the malformation and our patient's good condition permitted a primary definitive repair of the anomaly. A brief review of the relevant literature is included. Conclusion Delayed presentation of a patient with high anorectal malformation is rare. The appropriate treatment can be rewarding.

  17. Novel, mutable site in the cerebral cavernous malformation-1 gene in Chinese sporadic intracranial cavernous malformation patients

    Institute of Scientific and Technical Information of China (English)

    Rong Xie; Xiancheng Chen

    2009-01-01

    BACKGROUND: A cerebral cavernous malformation-1 (CCM1) gene mutation might result in functional loss of KREV interaction trapped-1 (KRIT1), which is related to onset of cavernous malformations (CM). However, data addressing sporadic CM in Chinese patients remains limited to date.OBJECTIVE: To analyze CCM1 mutation of Chinese patients with sporadic intracranial CM.DESIGN, TIME AND SETTING: Genetics experiment was performed in the Department of Neurosurgery, Huashan Hospital Affiliated to Fudan University between January 2004 and December 2005.PARTICIPANTS: Ninety patients with sporadic CM served as the CM group, and 30 healthy subjects were considered to be the control group.METHODS: Peripheral blood was collected from patients with CM and from control group subjects.Genomic DNA was extracted, and exons 8, 9, 11, 12, 13, 15, 16, 17, and 18, as well as the related introns, were amplified using polymerase chain reaction. DNA sequences were compared with GeneBank.MAIN OUTCOME MEASURES: Abnormal mutable site of CCM1 gene in the two groups.RESULTS: Four exclusive mutations of CCM1 were detected in the CM group, with a sporadic CM mutational rate of 32% (6/19). Of the four exclusive mutations, there was one missense mutation [exon 12, 1172C→T (S391F)], one insertion mutation [exon 8, 704insT (K246stop)], one intervening sequence mutation (IVS12-4C→T), and one synonymous mutation (exon 17,1875C→T). With the exception of 1875C→T, all mutations detected in the CM group led to functional changes of the KRIT1 protein, which was encoded by the CCM1 gene. Gene mutations were not detected in the control group.CONCLUSION: Four exclusive mutations of the CCM1 gene were determined in Chinese patients with sporadic CM, which led to functional changes or loss of the encoding KRIT1 protein. KRIT1 protein is considered to be the genetic basis of CM occurrence.

  18. Evaluation of the representativeness of a Dutch non-malformed control group for the general pregnant population : are these controls useful for EUROCAT?

    NARCIS (Netherlands)

    Jentink, J.; Zetstra-van der Woude, A.P.; Bos, Jens; De Jong-Van den Berg, L.T.

    2011-01-01

    Purpose A case-control study is the most powerful design to test the risk of specific congenital malformations associated with a specific drug. However, malformation registries often lack non-malformed controls. For the Dutch EUROCAT, we collected a non-malformed control group: the 'Healthy Pregnant

  19. [Cognitive and affective characteristics of children with malformation syndrome].

    Science.gov (United States)

    Tosi, B; Maestro, S; Marcheschi, M

    1995-10-01

    The aim of this paper is to study the psychological and relational aspects in children suffering from specific malformative syndrome and precisely Down s., Sotos s., X-Fragile s. and Williams s. Indeed literature provides much data related to the phenotype, to the organic-biological characteristics, but little or nothing is known about the affective structure, the episodes and to the particular dynamics that emerge in he relation between the parents and the malformed child. A protocol was applied to our sample group (16 subjects). This protocol includes laboratory and instrumental tests (chromosome test, neurometabolic screening, EEG, CT or cranial MRI, cardiac and abdominal ultrasonography, ear and eye test) aspects. This evaluation is carried out through the proposal of standardized situations (psychometric tests) and a use of a freer observational setting. This permits us to understand how the child perceives himself the awareness and the image he has of himself and how able he is to integrate his illness experiences and his way of relating with the environment. The data of our observations are thus used to compile a grill for the structural diagnosis of the personality. Besides, this evaluation is flanked by the observation of the family in order to explore the psychological image that parents have of their child, his character, his good points, his bad points, his similarities, how he relates to them, any educational problems and the emotional reaction that the communication of the diagnosis has raised in them. The videotaped observations are subsequently evaluated through the application of a grill for the study of the mother-child relationship. The results obtained from the psychological research underline a reasonable heterogeneity both of the intellectual level and of the metapsychological profile. Twelve subjects were mentally retarded (5 with mild mental retardation, 7 with moderate mental retardation); the remaining 4 had a normal cognitive development

  20. Isolated unilateral trismus as a presentation of Chiari malformation: case report.

    Science.gov (United States)

    Feinberg, Michelle; Babington, Parker; Sood, Shawn; Keating, Robert

    2016-05-01

    The authors present a case of Chiari malformation manifesting as isolated trismus, describe the typical symptoms associated with Chiari malformation, and discuss the potential anatomical causes for this unique presentation. A 3-year-old boy presented with inability to open his jaw for 6 weeks with associated significant weight loss. The results of medical and radiological evaluation were negative except for Type I Chiari malformation with cerebellar tonsils 12 mm below the level of the foramen magnum. The patient underwent Chiari decompression surgery. Postoperatively, his ability to open his mouth was significantly improved, allowing resumption of a regular diet. Postoperative MRI revealed almost complete resolution of the syringobulbia. To the best of the authors' knowledge, this is the first reported case of isolated trismus from Chiari malformation with syringobulbia.

  1. Successful treatment of two cases of urorectal septum malformation sequence with oligohydramnios and severe respiratory failure

    Directory of Open Access Journals (Sweden)

    Sekiguchi K

    2013-03-01

    Full Text Available Kazuhito Sekiguchi, Daijiro Takahashi, Takehiko Hiroma, Tomohiko Nakamura Division of Neonatology, Nagano Children's Hospital, Nagano, Japan Abstract: Urorectal septum malformation sequence can be diagnosed prenatally. We report herein the successful treatment of severe respiratory failure in two patients with urorectal septum malformation sequence and prenatally diagnosed oligohydramnios. The patients showed significant hypoxic deterioration and persistent pulmonary artery hypertension soon after birth. We used high-frequency ventilation (HFO, nitric oxide (NO, and extracorporeal membrane oxygenation (ECMO. The patients were successfully weaned from ECMO and artificial ventilation and discharged to home. Although termination of the pregnancy has often been selected for fetuses with oligohydramnios-related urorectal septum malformation sequence, our results suggest the opportunity for these fetuses to be treated using respiratory supports including HFO, NO, and ECMO after birth. Keywords: urorectal septum malformation sequence, oligohydramnios, pulmonary hypoplasia

  2. Bilateral absence of fifth ray in feet, cleft palate, malformed ears, and ...

    African Journals Online (AJOL)

    Rabah M. Shawky

    2014-01-04

    Jan 4, 2014 ... 2014 Production and hosting by Elsevier B.V. on behalf of Ain Shams University. 1. Introduction ... predominantly post axial malformations plus mandibulofacial .... development of the fifth digital rays in both upper and lower.

  3. Psychosocial job strain and risk of congenital malformations in offspring--a Danish National cohort study

    DEFF Research Database (Denmark)

    Larsen, A D; Hannerz, H; Thulstrup, A M

    2014-01-01

    (aOR 0.99, 95% CI 0.85-1.15). Supplementary analyses including restriction to first-borns and a stratified analysis with respect to manual and nonmanual work did not change the results. CONCLUSIONS: Association between exposure to high job strain during pregnancy and elevated risk of circulatory......OBJECTIVE: To investigate if maternal exposure to psychosocial job strain at work (high demands and low control) measured by questionnaire early in pregnancy (median week 15) is associated with malformations in the offspring. DESIGN: Population-based cohort study. SETTING: The Danish National Birth...... strain with adjustment for maternal age, body mass index, parity, smoking, alcohol use, manual versus nonmanual work, maternal serious disease and gestational age at interview. MAIN OUTCOME MEASURES: Circulatory malformation, musculoskeletal malformation or any malformation. RESULTS: Logistic regression...

  4. Neonatal outcome and congenital malformations in children born after ICSI with testicular or epididymal sperm

    DEFF Research Database (Denmark)

    Fedder, Jens; Loft, A; Parner, Erik Thorlund;

    2013-01-01

    Does neonatal outcome including congenital malformations in children born after ICSI with epididymal and testicular sperm [testicular sperm extraction (TESE)/percutaneous epididymal sperm aspiration (PESA)/testicular sperm aspiration (TESA) (TPT)] differ from neonatal outcome in children born after...

  5. Vein of Galen malformation: What to do when vascular access is not feasible?

    Directory of Open Access Journals (Sweden)

    Zenteno Marco

    2014-06-01

    Full Text Available Background: The vein of Galen aneurysmal malformation (GVAM is a rare congenital vascular lesion, with high morbidity and mortality without treatment, endovascular management is the best alternative available today.

  6. Risk of congenital malformations among children of construction painters in Denmark

    DEFF Research Database (Denmark)

    Tougaard, Ninna Hahn; Bonde, Jens Peter; Hougaard, Karin Sørig

    2015-01-01

    , malformations, and parental occupation. The cohort included >1,300,000 children born to occupationally active women in Denmark 1980-2010. Cases were hospital-diagnosed with malformations within the first year of life. Odds ratios (OR) with 95% confidence intervals (95% CI) were estimated using multiple logistic...... diagnoses within the first 10 years of life, when stratifying by maternal age, birth year, and sex, or for paternal construction painters. CONCLUSIONS: This nationwide cohort study is reassuring with no indications of increased risk of congenital malformations among children of male or of female......OBJECTIVES: Painters' occupational exposure is classified as a group 1 carcinogen by the International Agency for Research on Cancer (IARC). Previous studies have shown increased risk of congenital malformations among children of women exposed to organic solvents and paint emissions during...

  7. Frog malformations at the San Luis National Wildlife Refuge complex 2000-2001

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — In 2000 a nationwide survey of amphibian malformations was initiated. Because of its history of contamination with agricultural drainwater, the San Luis NWR Complex...

  8. Auditory dysfunction in selected syndromes and patterns of malformations: review and case findings.

    Science.gov (United States)

    Hall, J W; Prentice, C H; Smiley, G; Werkhaven, J

    1995-01-01

    Hundreds of syndromes may be associated with hearing impairment. Within recent years, there has been heightened research and clinical interest in hearing and syndromes, probably due to both advances in molecular genetics and improved techniques for auditory assessment of infants and young children. An example of the current appreciation for the possible relation between auditory dysfunction and syndromes or patterns of malformations is the inclusion of syndromes as a risk factor for hearing impairment by the 1990 Joint Committee on Infant Hearing. In this paper, we review syndromes and patterns of malformation that are frequently or occasionally associated with hearing impairment. In addition, we illustrate, in case studies, auditory findings that may be associated with three of these syndromes and patterns of malformation: Carpenter syndrome, ichthyosiform dermatosis, and Townes syndrome. We conclude with a discussion of strategies for audiologic assessment and management of infants and children with syndromes and patterns of malformations.

  9. Implications of a first trimester Down syndrome screening program on timing of malformation detection

    DEFF Research Database (Denmark)

    Jakobsen, Tanja Roien; Søgaard, Kirsten; Tabor, Ann

    2011-01-01

    To determine the impact which introduction of the 11-14 week scan has had on the gestational age at which fetal malformations are detected by ultrasound in an unselected population of pregnant women....

  10. Congenital malformations and maternal consumption of benzodiazepines: a case-control study.

    Science.gov (United States)

    Laegreid, L; Olegård, R; Conradi, N; Hagberg, G; Wahlström, J; Abrahamsson, L

    1990-05-01

    This study assessed potential teratogenic properties of benzodiazepine (BZD) intake during early pregnancy. Four neonatal diagnoses of congenital malformations (embryopathy and fetopathy, unspecified; unspecified congenital malformations of the nervous system; cleft palate and cleft lip; congenital malformations of the urinary tract) were selected. The authors' previous clinical experience had shown these diagnoses to be characteristic of infants born to mothers with excessive intake of BZD in early pregnancy. The selected diagnoses were present in 25 of 10,646 liveborn infants (2.3 per 1000) delivered by mothers living in the city of Gothenburg in 1985 and 1986. In 18 of these cases, it was possible to analyse maternal plasma, and eight samples (44 per cent) were found to be BZD-positive. Of 60 controls, two maternal blood samples (3 per cent) were positive for BZD. The difference is highly significant and suggests an association between these congenital malformations and BZD consumed during early gestation.

  11. Pulmonary arteriovenous malformations: screening procedures and pulmonary angiography in patients with hereditary hemorrhagic telangiectasia

    DEFF Research Database (Denmark)

    Kjeldsen, A D; Oxhøj, H; Andersen, P E

    1999-01-01

    Hereditary hemorrhagic telangiectasia (HHT) is a dominantly inherited disease with a high prevalence of pulmonary arteriovenous malformations (PAVMs). The first symptom of HHT may be stroke or fatal hemoptysis associated with the presence of PAVM....

  12. Fetal macrosomia as an important indicator of fetal malformation syndrome: ultrasonic findings of two cases

    NARCIS (Netherlands)

    PA de Jong; MD E.J.M. Wouters; EA Pley

    1989-01-01

    Two extraordinary cases of fetal macrosomia are presented. It is discussed that extreme fetal growth should raise the suspicion of a malformation syndrome and deserves thorough antenatal ultrasonographic examination.

  13. Radiology, histology and short-term outcome of asymptomatic congenital thoracic malformations

    DEFF Research Database (Denmark)

    Kongstad, Thomas; Buchvald, Frederik; Brenøe, Jørn;

    2012-01-01

    The aim of this study was to evaluate the safety and short-term outcome of our management of asymptomatic children with antenatally diagnosed congenital thoracic malformations (CTM), compared with recommendations from a recent review and meta-analysis....

  14. Prenatal diagnostic procedures used in pregnancies with congenital malformations in 14 regions of Europe

    NARCIS (Netherlands)

    Garne, E; Loane, M; de Vigan, C; Scarano, G; de Walle, H; Gillerot, Y; Stoll, C; Addor, MC; Stone, D; Gener, B; Feijoo, M; Mosquera-Tenreiro, C; Gatt, M; Queisser-Luft, A; Baena, N; Dolk, H

    2004-01-01

    Objective To investigate outcomes of ultrasound investigations (US) and invasive diagnostic procedures in cases of congenital malformations (CM), and to compare the use of invasive prenatal test techniques (amniocentesis (AC) versus chorionic villus sampling (CVS)) among European populations. Design

  15. Female pseudohermaphroditism in a prenatally diagnosed cloacal malformation with hydronephrosis, dilated bladder, hydrometrocolpos, and oligohydramnios

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2013-12-01

    Conclusion: Prenatal diagnosis of cloacal malformation with ambiguous genitalia should be paid attention to avoid misdiagnosis of a male with an imperforate anus and a perineal fistula. Cytogenetic analysis is helpful to determine the sex under such circumstances.

  16. Fetal malformations and early embryonic gene expression response in cynomolgus monkeys maternally exposed to thalidomide

    Science.gov (United States)

    The present study was performed to determine experimental conditions for thalidomide induction of fetal malformations and to understand the molecular mechanisms underlying thalidomide teratogenicity in cynomolgus monkeys. Cynomolgus monkeys were orally administered (±)-thalidomid...

  17. Multidisciplinary behavioral treatment of defecation problems: a controlled study in children with anorectal malformations.

    NARCIS (Netherlands)

    Kuyk, E.M. van; Wissink-Essink, M.; Brugman-Boezeman, A.T.M.; Oerlemans, H.M.; Nijhuis-Van der Sanden, M.W.G.; Severijnen, R.S.V.M.; Festen, C.; Bleijenberg, G.

    2001-01-01

    BACKGROUND/PURPOSE: The most frequent consequences of being born with an anorectal malformation (ARM) are problems with fecal continence and constipation, which can have various negative implications. In this prospective, controlled study the effect of multidisciplinary behavioral treatment dealing

  18. Survey for malformed amphibians at National Wildlife Refuges in the southeast Region: Final report for 2001

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — Report provides findings of surveys for malformed frogs in select refuges in LA, MS, and TN. Standard protocol for sampling anuran populations were followed.

  19. Survey for malformed amphibians at National Wildlife Refuges in the southeast Region: Final report for 2000

    Data.gov (United States)

    US Fish and Wildlife Service, Department of the Interior — Report provides findings of surveys for malformed frogs in select refuges in LA and TN. Standard protocol for sampling anuran populations were followed.

  20. FAM222B Is Not a Likely Novel Candidate Gene for Cerebral Cavernous Malformations

    NARCIS (Netherlands)

    Spiegler, Stefanie; Kirchmaier, Bettina; Rath, Matthias; Korenke, G. Christoph; Tetzlaff, Fabian; Van De Vorst, Maartje; Neveling, Kornelia; Acker-Palmer, Amparo; Kuss, Andreas W.; Gilissen, Christian; Fischer, Andreas; Schulte-Merker, Stefan; Felbor, Ute

    2016-01-01

    Cerebral cavernous malformations (CCMs) are prevalent slow-flow vascular lesions which harbour the risk to develop intracranial haemorrhages, focal neurological deficits, and epileptic seizures. Autosomal dominantly inherited CCMs were found to be associated with heterozygous inactivating mutations

  1. Chiari 0 malformation with syringomyelia syringobulbia and syrinx cavity in pons

    OpenAIRE

    Yuan Zhou; Handong Wang; Ning Li; Yixing Lin; Lin Zhu; Huilin Cheng

    2016-01-01

    Chiari 0 malformation (CM-0) with syringomyelia syringobulbia and syrinx cavity in pons simultaneously is rare. We present a case of 31-year-old man, review the available literature, and discuss the experience of therapy from the neurosurgical perspective.

  2. Histology of the Terminal End of the Distal Rectal Pouch and Fistula Region in Anorectal Malformations

    Directory of Open Access Journals (Sweden)

    A.N. Gangopadhyay

    2008-10-01

    CONCLUSION: This study shows that the terminal end of the distal rectal pouch and proximal fistula region possess distorted anal features with aganglionosis, and contradicts the recommendation that this region should be reconstructed in patients with malformations.

  3. Comparison of the major malformation rate of children conceived from cryopreserved embryos and fresh embryos

    Institute of Scientific and Technical Information of China (English)

    LI Hong-zhen; QIAO Jie; CHI Hong-bin; CHEN Xin-na; LIU Ping; MA Cai-hong

    2010-01-01

    Background Cryopreserved embryo transfer has become indispensable in reproductive technology. More and more children are conceived from frozen-thawed embryo transfer (FET). The risk of birth defects associated with frozen-thawed embryo transfer has been evaluated and conflict results are obtained. The aim of this study was to compare the rate of major malformations in children conceived from cryopreserved embryos with that of children from fresh embryos. Methods A retrospective analysis was performed on children conceived from frozen-thawed embryos and fresh embryos between January 2005 and December 2008 at the Reproduction Center of the Third Hospital, Peking University.The major malformation rates were compared between two groups for all children, as well as singletons or twins,separately. The frequencies of different subtypes of malformations classified according to different organ system were also compared.Results Thirty-four of 3125 children from cryopreserved embryos had a major malformation. The malformation rate was 1.09%, which was comparable to that for children after fresh embryos transfer (1.53%(55/3604), OR:0.71, 95% CI; 0.46-1.09). The malformation rate was also similar when the analysis was limited to children from cryopreserved embryos resulted from in vitro fertilization (IVF)(1.39%)and fresh IVF(1.3%). However, children from cryopreserved embryos resulted from intracytoplasmic sperm injections (ICSI) had much lower malformation rate than from fresh ICSI(0.63% vs.1.83%, OR: 0.34, 95% CI: 0.16-0.75). No difference was found in the incidence of major malformations in singletons from cryo ICSI (0.73%) and fresh ICS1(1.9%), or from cryo IVF(1.49%) and fresh IVF(1.67%). Similar malformation rate was found in multiples from cryo ICSI(0.52%) and fresh ICSI(1.76%), or cryo IVF(1.30%) and fresh IVF(0.90%). The distribution and risk of the subtype of malformations, such as cardiovascular, gastrointestinal, neural tube, urogenital, rnusculoskeletal and facial

  4. Clinical value of classification of venous malformations with contrast-enhanced MR Angiography.

    Science.gov (United States)

    Abdel Razek, Ahmed Abdel Khalek; Albair, Germeen Ashmalla; Samir, Sieza

    2016-12-07

    To classify venous malformations based on contrast-enhanced MR angiography that may serve as a basis for treatment plan. A retrospective analysis was performed in 58 patients with venous malformations who underwent contrast-enhanced MR angiography. Venous malformations were classified according to their venous drainage into: type I, isolated malformation without peripheral drainage; type II, malformation that drains into normal veins; type III, malformation that drains into dilated veins; and type IV, malformation that represents dysplastic venous ectasia. Image analysis was done by two reviewers. Intra and inter-observer agreement of both reviewers and intra-class correlation was done. The intra-observer agreement of contrast-enhanced MR angiography classification of venous malformations was excellent for the first reviewer (k = 0.83, 95% CI = 0.724-0.951, P = 0.001) and substantial for the second reviewer (K = 0.79, 95% CI = 0.656-0.931, P = 0.001). The inter-observer agreement of contrast-enhanced MR angiography classification of venous malformations was excellent for both reviewers at the first time (K = 0.96, 95% CI = 0.933-1.000, P = 0.001) and second time (k = 0.81, 95% CI = 0.678-0.942, P = 0.001). There was high intra-class correlation of both reviewers for single measure (ICC = 0.85, 95% CI = 0.776-0.918, P = 0.001) and for average measures (ICC = 0.96, 95% CI = 0.933-0.978, P = 0.001). Contrast-enhanced MR angiography classification of venous malformations may be a useful, simple and reliable tool to accurately classify venous malformation and this topographic classification helps for better management strategy. © The Author(s) 2016.

  5. Endoscopic endonasal transclival resection of a ventral pontine cavernous malformation: technical case report.

    Science.gov (United States)

    Gómez-Amador, Juan Luis; Ortega-Porcayo, Luis Alberto; Palacios-Ortíz, Isaac Jair; Perdomo-Pantoja, Alexander; Nares-López, Felipe Eduardo; Vega-Alarcón, Alfredo

    2016-10-21

    Brainstem cavernous malformations are challenging due to the critical anatomy and potential surgical risks. Anterolateral, lateral, and dorsal surgical approaches provide limited ventral exposure of the brainstem. The authors present a case of a midline ventral pontine cavernous malformation resected through an endoscopic endonasal transclival approach based on minimal brainstem transection, negligible cranial nerve manipulation, and a straightforward trajectory. Technical and reconstruction technique advances in endoscopic endonasal skull base surgery provide a direct, safe, and effective corridor to the brainstem.

  6. Interhemispheric Lipoma, Callosal Anomaly, and Malformations of Cortical Development: A Case Series

    OpenAIRE

    Niwa, Tetsu; Linda S de Vries; Manten, GTR; Lequin, Maarten; Cuppen, Inge; Shibasaki, Jun; Aida, Noriko

    2016-01-01

    Intracranial lipomas are rare congenital malformations. The most common type of intracranial lipoma is the interhemispheric lipoma, which is frequently associated with callosal anomalies such as hypogenesis or agenesis of the corpus callosum. In contrast, interhemispheric lipomas are less often accompanied with malformations of cortical development (MCD). We report magnetic resonance imaging findings of three infants with an interhemispheric lipoma, associated with a callosal anomaly, and MCD...

  7. Orbital Emphysema Causing SyncopeChiari Malformation with Thick Occipital Bone

    Directory of Open Access Journals (Sweden)

    Yasuhara,Takao

    2011-02-01

    Full Text Available A case of a Chiari malformation with an extraordinarily thick occipital bone is described. The thick occipital bone might make the posterior fossa narrow with consequent herniation of the cerebellar tonsils to the foramen magnum and formation of a syrinx. At dural plasty, well-developed marginal and occipital sinuses should be deliberately handled with the preservation of normal venous drainage. This case gives us the essence of the occurrence mechanisms of Chiari malformation and foramen magnum decompression.

  8. [Prenatal exposure to birth control pills: risk of fetal death and congenital malformations].

    Science.gov (United States)

    Jellesen, Rikke; Andersen, Anne-Marie Nybo

    2006-06-19

    About 1% of pregnant women uses oral contraceptives during the first part of their pregnancy and thereby exposes their offspring to artificial estrogens. Artificial estrogens, such as oral contraceptives, accidentally used during pregnancy may have a negative impact on the fetus. This article reviews the literature on prenatal exposure to oral contraceptives and the risk of congenital malformations and fetal death. The conclusion is that prenatal exposure to oral contraceptives may be associated with a slightly elevated risk of certain specific congenital malformations.

  9. Defining the molecular pathologies in cloaca malformation: similarities between mouse and human

    Directory of Open Access Journals (Sweden)

    Laura A. Runck

    2014-04-01

    Full Text Available Anorectal malformations are congenital anomalies that form a spectrum of disorders, from the most benign type with excellent functional prognosis, to very complex, such as cloaca malformation in females in which the rectum, vagina and urethra fail to develop separately and instead drain via a single common channel into the perineum. The severity of this phenotype suggests that the defect occurs in the early stages of embryonic development of the organs derived from the cloaca. Owing to the inability to directly investigate human embryonic cloaca development, current research has relied on the use of mouse models of anorectal malformations. However, even studies of mouse embryos lack analysis of the earliest stages of cloaca patterning and morphogenesis. Here we compared human and mouse cloaca development and retrospectively identified that early mis-patterning of the embryonic cloaca might underlie the most severe forms of anorectal malformation in humans. In mouse, we identified that defective sonic hedgehog (Shh signaling results in early dorsal-ventral epithelial abnormalities prior to the reported defects in septation. This is manifested by the absence of Sox2 and aberrant expression of keratins in the embryonic cloaca of Shh knockout mice. Shh knockout embryos additionally develop a hypervascular stroma, which is defective in BMP signaling. These epithelial and stromal defects persist later, creating an indeterminate epithelium with molecular alterations in the common channel. We then used these animals to perform a broad comparison with patients with mild-to-severe forms of anorectal malformations including cloaca malformation. We found striking parallels with the Shh mouse model, including nearly identical defective molecular identity of the epithelium and surrounding stroma. Our work strongly suggests that early embryonic cloacal epithelial differentiation defects might be the underlying cause of severe forms of anorectal malformations

  10. High-flow vascular malformation treatment using ultrasound-guided laser combined with polidocanol sclerotherapy.

    Science.gov (United States)

    Zhang, Yan; Zhou, Ping; Li, Lan; Li, Jia-le

    2015-07-01

    The current treatment for vascular malformations includes surgery, sclerotherapy, and embolization. However, each method has its limitations, such as recurrence, complications, scarring, and radiation exposure. Therefore, identifying an effective, minimally invasive treatment that reduces lesion recurrence is particularly important. We describe in detail a patient who received treatment with ultrasound-guided laser interruption of feeding vessels combined with polidocanol sclerotherapy after the recurrence of forearm high-flow vascular malformation.

  11. Extracranial vascular malformation: value of antenatal and postnatal MRI in management

    Energy Technology Data Exchange (ETDEWEB)

    Roche, C.J.; Pilling, D.W. [Dept. of Radiology, Royal Liverpool Children' s Hospital NHS Trust (United Kingdom); Walkinshaw, S.A. [Dept. of Fetal Medicine, Liverpool Women' s Hospital (United Kingdom); May, P.L. [Dept. of Neurosurgery, Royal Liverpool Children' s Hospital NHS Trust (United Kingdom)

    2001-10-01

    We report a case where fetal MRI using a low-field-strength magnet (0.5 T) accurately confirmed a large extracranial vascular malformation, which was suspected on antenatal US. Fetal MRI enabled better counselling of the parents and allowed suitable plans to be made regarding method of delivery and early management of the neonate. To our knowledge this is the first case of an extracranial vascular malformation imaged using fetal MRI. (orig.)

  12. Disruption of action potential and calcium signaling properties in malformed myofibers from dystrophin-deficient mice.

    Science.gov (United States)

    Hernández-Ochoa, Erick O; Pratt, Stephen J P; Garcia-Pelagio, Karla P; Schneider, Martin F; Lovering, Richard M

    2015-04-01

    Duchenne muscular dystrophy (DMD), the most common and severe muscular dystrophy, is caused by the absence of dystrophin. Muscle weakness and fragility (i.e., increased susceptibility to damage) are presumably due to structural instability of the myofiber cytoskeleton, but recent studies suggest that the increased presence of malformed/branched myofibers in dystrophic muscle may also play a role. We have previously studied myofiber morphology in healthy wild-type (WT) and dystrophic (MDX) skeletal muscle. Here, we examined myofiber excitability using high-speed confocal microscopy and the voltage-sensitive indicator di-8-butyl-amino-naphthyl-ethylene-pyridinium-propyl-sulfonate (di-8-ANEPPS) to assess the action potential (AP) properties. We also examined AP-induced Ca(2+) transients using high-speed confocal microscopy with rhod-2, and assessed sarcolemma fragility using elastimetry. AP recordings showed an increased width and time to peak in malformed MDX myofibers compared to normal myofibers from both WT and MDX, but no significant change in AP amplitude. Malformed MDX myofibers also exhibited reduced AP-induced Ca(2+) transients, with a further Ca(2+) transient reduction in the branches of malformed MDX myofibers. Mechanical studies indicated an increased sarcolemma deformability and instability in malformed MDX myofibers. The data suggest that malformed myofibers are functionally different from myofibers with normal morphology. The differences seen in AP properties and Ca(2+) signals suggest changes in excitability and remodeling of the global Ca(2+) signal, both of which could underlie reported weakness in dystrophic muscle. The biomechanical changes in the sarcolemma support the notion that malformed myofibers are more susceptible to damage. The high prevalence of malformed myofibers in dystrophic muscle may contribute to the progressive strength loss and fragility seen in dystrophic muscles. © 2015 The Authors. Physiological Reports published by Wiley

  13. Implications of a first trimester Down syndrome screening program on timing of malformation detection

    DEFF Research Database (Denmark)

    Jakobsen, Tanja Roien; Søgaard, Kirsten; Tabor, Ann

    2011-01-01

    To determine the impact which introduction of the 11-14 week scan has had on the gestational age at which fetal malformations are detected by ultrasound in an unselected population of pregnant women.......To determine the impact which introduction of the 11-14 week scan has had on the gestational age at which fetal malformations are detected by ultrasound in an unselected population of pregnant women....

  14. Vibrant Soundbridge and Bone Conduction Hearing Aid in Patients with Bilateral Malformation of External Ear

    OpenAIRE

    Mondelli, Maria Fernanda Capoani Garcia; Mariano, Thais Cristina Barbosa; Heitor Marques HONÓRIO; Brito, Rubens Vuono de

    2016-01-01

    Introduction Hearing loss is the most common clinical finding in patients with malformation of the external ear canal. Among the possibilities of treatment, there is the adaptation of hearing aids by bone conduction and the adaptation of implantable hearing aids. Objective To assess speech perception with the use of Vibrant Soundbridge (VBS - MED-EL, Innsbruck, Austria) associated with additional amplification in patients with bilateral craniofacial malformation. Method We evaluated 11 p...

  15. Coarctation of the aorta and vein of Galen malformation - treatment considerations in a severely compromised patient.

    Science.gov (United States)

    Emmel, Mathias; Bennink, Gerardus; Meila, Dan; Brassel, Friedhelm

    2012-10-01

    A vein of Galen malformation - a rare cause of cardiac insufficiency in neonates - is sometimes associated with coarctation of the aorta, two diseases requiring urgent therapy in the neonatal period. We report on a term neonate in whom we first palliated the coarctation by stent implantation, providing time to treat the vein of Galen malformation by endovascular embolisation. Following this, the coarctation was surgically repaired and the stent was explanted.

  16. Pulmonary hypertensive crisis following ethanol sclerotherapy for a complex vascular malformation.

    Science.gov (United States)

    Cordero-Schmidt, G; Wallenstein, M B; Ozen, M; Shah, N A; Jackson, E; Hovsepian, D M; Palma, J P

    2014-09-01

    Anhydrous ethanol is a commonly used sclerotic agent for treating vascular malformations. We describe the case of a full-term 15-day-old female with a complex venolymphatic malformation involving the face and orbit. During treatment of the lesion with ethanol sclerotherapy, she suffered acute pulmonary hypertensive crisis. We discuss the pathophysiology of pulmonary hypertension related to ethanol sclerotherapy, and propose that hemolysis plays a significant role. Recommendations for evaluation, monitoring and management of this complication are also discussed.

  17. Placenta previa and risk of major congenital malformations among singleton births in Finland.

    Science.gov (United States)

    Kancherla, Vijaya; Räisänen, Sari; Gissler, Mika; Kramer, Michael R; Heinonen, Seppo

    2015-06-01

    Placenta previa has been associated with adverse birth outcomes, but its association with congenital malformations is inconclusive. We examined the association between placenta previa and major congenital malformations among singleton births in Finland. We performed a retrospective population register-based study on all singletons born at or after 22+0 weeks of gestation in Finland during 2000 to 2010. We linked three national health registers: the Finnish Medical Birth Register, the Hospital Discharge Register, and the Register of Congenital Malformations, and examined several demographic and clinical characteristics among women with and without placenta previa, in association with major congenital malformations. We estimated adjusted odds ratios and 95% confidence intervals using multivariable logistic regression models. The prevalence of placenta previa was estimated as 2.65 per 1000 singleton births in Finland (95% confidence interval, 2.53-2.79). Overall, 6.2% of women with placenta previa delivered a singleton infant with a major congenital malformation, compared with 3.8% of unaffected women (p ≤ 0.001). Placenta previa was positively associated with almost 1.6-fold increased risk of major congenital malformations in the offspring, after controlling for maternal age, parity, fetal sex, smoking, socio-economic status, chorionic villus biopsy, In vitro fertilization, pre-existing diabetes, depression, preeclampsia, and prior caesarean section (adjusted odds ratio = 1.55; 95% confidence interval, 1.27-1.90). Using a large population-based study, we found that placenta previa was weakly, but significantly associated with an increased risk of major congenital malformations in singleton births. Future studies should examine the association between placenta previa and individual types of congenital malformations, specifically in high-risk pregnancies. © 2015 Wiley Periodicals, Inc.

  18. Progress and perspective of TBX6 gene in congenital vertebral malformations

    OpenAIRE

    Chen, Weisheng; Liu, Jiaqi; Yuan, Dongtang; Zuo, Yuzhi; Liu, Zhenlei; Liu, Sen; Zhu, Qiankun; Qiu, Guixing; Huang, Shishu; Giampietro, Philip F.; Zhang, Feng; Wu, Nan; Wu, Zhihong

    2016-01-01

    Congenital vertebral malformation is a series of significant health problems affecting a large number of populations. It may present as an isolated condition or as a part of an underlying syndromes occurring with other malformations and/or clinical features. Disruption of the genesis of paraxial mesoderm, somites or axial bones can result in spinal deformity. In the course of somitogenesis, the segmentation clock and the wavefront are the leading factors during the entire process in which TBX...

  19. Middle and inner ear malformations in two cases of velocardiofacial syndrome

    OpenAIRE

    Tabith Junior,Alfredo; Haetinger, Rainer Guilherme; Silva,Fernando Leite de Carvalho e; Gudmon, Monica de Castro

    2009-01-01

    Objective: To describe audiometric characteristics and middle and inner ear malformations in two patients with velocardiofacial syndrome. Method: Audiometric evaluation, computerized tomography of the temporal bones and analysis of DNA for multiple markers of 22q11 region were performed in two patients with clinical signs of velocardiofacial syndrome. Results: Conductive hearing loss related to chronic otites media and middle and inner ear malformations were found, the latter with the use of ...

  20. Restudy of malformations of the internal auditory meatus, cochlear nerve canal and cochlear nerve

    OpenAIRE

    Li, Youjin; YANG, Jun; Liu, Jinfen; Wu, Hao

    2014-01-01

    The present study aims to restudy the correlation between the internal auditory meatus (IAM), the cochlear nerve canal (CNC), the cochlear nerve (CN) and inner ear malformations. In this retrospective study design, the abnormal diameter of the IAM, CNC and CN in patients with any kind of inner ear malformations was evaluated using multi-slice spiral computed tomography (MSCT) (37 patients) and magnetic resonance imaging (MRI) (18 patients). Of 37 MSCT-diagnosed patients, 2 had IAM atresia, 11...

  1. Spontaneous occlusion of a cerebral arteriovenous malformation after subtotal endovascular embolisation

    Directory of Open Access Journals (Sweden)

    Chiriac A.

    2014-06-01

    Full Text Available We present a case of a patient with a ruptured temporo-occipital arteriovenous malformation, grade 3 on Spetzler-Martin scale, with an unpredictable evolution. A spontaneous occlusion of the malformation was found at 4 months after the initial partial endovascular embolization. We reviewed and discuss some aspects concerning clinical and angiographic finding, the angioarchitectural remodelling and evolution of the AVMs after partial occlusion treatment.

  2. Inheritance of Chiari-Like Malformation: Can a Mixed Breeding Reduce the Risk of Syringomyelia?

    OpenAIRE

    Susan P Knowler; Henny v/d Berg; Angus McFadyen; La Ragione, Roberto M; Clare Rusbridge

    2016-01-01

    Canine Chiari-like malformation (CM) is a complex abnormality of the skull and craniocervical junction associated with miniaturization and brachycephaly which can result in the spinal cord disease syringomyelia (SM). This study investigated the inheritance of CM in a Griffon Bruxellois (GB) family and feasibility of crossbreeding a brachycephalic CM affected GB with a mesaticephalic normal Australian terrier and then backcrossing to produce individuals free of the malformation and regain GB b...

  3. Symptomatic Chiari Malformation with Syringomyelia after Severe Traumatic Brain Injury: Case Report

    OpenAIRE

    Luis Rafael Moscote-Salazar; Nasly Zabaleta-Churio; Gabriel Alcala-Cerra; Andres M. Rubiano; Willem Guillermo Calderon-Miranda; Hernando Raphael Alvis-Miranda; Amit Agrawal

    2016-01-01

    Chiari malformation Type I (CM-I) is a congenital disorder, which is basically a tonsillar herniation (≥ 5 mm) below the foramen magnum with or without syringomyelia. The real cause behind this malformation is still unknown. Patients may remain asymptomatic until they engender a deteriorating situation, such as cervical trauma. The objective of this case report is to give a broad perspective on CM-I from the clinical findings obtained in a patient with asymptomatic non-communicating syringomy...

  4. Difficult intubation in a parturient with syringomyelia and Arnold-Chiari malformation: Use of Airtraq™ laryngoscope

    Directory of Open Access Journals (Sweden)

    Bensghir Mustapha

    2011-01-01

    Full Text Available Anesthetic technique in parturient with syringomyelia and Arnold-Chiari malformation is variable depending on the teams. Difficult intubation is one of the risks when general anesthesia is opted. Different devices have been used to manage the difficult intubation in pregnant women. We report the use of Airtraq™ laryngoscope after failed standard laryngoscopy in a parturient with syringomyelia and Arnold-Chiari type I malformation.

  5. Vascular malformations of the upper limb: a review of 270 patients.

    Science.gov (United States)

    Upton, J; Coombs, C J; Mulliken, J B; Burrows, P E; Pap, S

    1999-09-01

    Vascular malformations of the upper limb were once thought to be impossible to properly diagnose and treat. We reviewed our experience with these malformations of the upper limb in 270 patients seen over a 28-year period. These anomalies were slightly more common in females than males (ratio, 1.5:1.0). The malformations were categorized as either slow flow (venous, n = 125; lymphatic, n = 47; capillary, n = 32; combined, n = 33) or fast flow (arterial, n = 33). Three categories of fast-flow malformations were identified and designated as types A, B, and C. Over 90% of these lesions could be properly diagnosed by their appearance and growth pattern within the first 2 years of life. Additional radiographic studies were used to confirm this diagnosis and to define specific characteristics. Magnetic resonance imaging with and without contrast best demonstrated site, size, flow characteristics, and involvement of contiguous structures for all types of malformations. Algorithms for treatment of both slow-flow and fast-flow anomalies are presented. Two hundred sixty surgical resections were performed in 141 patients, including 24 of 33 fast-flow anomalies. Preoperative angiographic assessment, with magnified views, was an important preoperative adjunct before any well-planned resection of fast-flow arteriovenous malformations. The surgical strategy in all groups was to thoroughly extirpate the malformation, with preservation of nerves, tendons, joints, and uninvolved muscle, and microvascular revascularization and skin replacement as required. Resections were always restricted to well-defined regions and often completed in stages. Symptomatic slow-flow malformations and types A and B fast-flow anomalies were resected without major sequelae. Type C arterial anomalies, diffuse, pulsating lesions with distal vascular steal, and involvement of all tissues, including bone, progressed clinically and resulted in amputation in 10 of 14 patients. The complication rate was 22% for

  6. Novel Vascular Malformation in an Affected Newborn with Deletion Del(4)(q31.3)

    OpenAIRE

    Norma Elena de León Ojeda; Michel Soriano-Torres; Cabrera, Mercedes J.; Dunia Bárbara Benítez Ramos

    2012-01-01

    We report on a newborn male patient with a terminal deletion in the long arm of the chromosome 4 with a congenital heart defect unreported before in association with this syndrome. The patient had multiple congenital anomalies including a pointed duplicated fingernail, low set posteriorly rotated ears, large anterior fontanel, micrognathia, glabellar capillary vascular malformation, and Interrupted Aortic Arch type C. The patient died due to multiple congenital malformations; a peripheral chr...

  7. Intracranial Hypertension in a Patient with a Chiari Malformation Accompanied by Hyperthyroidism.

    Science.gov (United States)

    Pang, Chang Hwan; Lee, Soo Eon; Kim, Chi Heon; Chung, Chun Kee

    2015-09-01

    The Chiari malformation is an infrequently detected congenital anomaly characterized by the downward displacement of the cerebellum with a tonsillar herniation below the foramen magnum that may be accompanied by either syringomyelia or hydrocephalus. Surgery, such as foramen magnum decompression, is indicated for a symptomatic Chiari malformation, although an incidental lesion may be followed-up without further treatment. Infrequently, increased intracranial pressure emerges due to hyperthyroidism. A nineteen-year-old girl visited our outpatient clinic presented with a headache, nausea and vomiting. A brain and spinal magnetic resonance image study (MRI) indicated that the patient had a Chiari I malformation without syringomyelia or hydrocephalus. An enlarged thyroid gland was detected on a physical examination, and serum markers indicated Graves' disease. The patient started anti-hyperthyroid medical treatment. Subsequently, the headache disappeared after the medical treatment of hyperthyroidism without surgical intervention for the Chiari malformation. A symptomatic Chiari malformation is indicated for surgery, but a surgeon should investigate other potential causes of the symptoms of the Chiari malformation to avoid unnecessary surgery.

  8. No effects of dioxin singly on limb malformations in macaque monkeys through epidemiological and treated studies

    Energy Technology Data Exchange (ETDEWEB)

    Asaoka, Kazuo; Iida, Hiroko [Kyoto Univ. (Japan). Primate Research Insitute, Dept. of Molecular and Cellular Biochemistry; Watanabe, Kunio [Kyoto Univ. (Japan). Primate Research Institute, Field Research Center; Goda, Hiroshi [Towa Kagaku Co., Ltd. (Japan); Ihara, Toshio; Nagata, Ryoichi [Shin Nippon Biomedical Laboratories, Ltd. (Japan). Safety Research Facility; Yasuda, Mineo [Hiroshima International Univ. (Japan). Fac. of Health Sciences, Dept. of Clinical Engineering; Kubata, Shunichiro [Tokyo Univ. (Japan). Dept. of Life Science, Graduate School of Arts and Sciences

    2004-09-15

    Human populations exposed with highly dioxin were suspected to be caused immunological dysfunctions, carcinogenesis, and developmental and reproductive dysfunctions. Because of species resemblances, the dioxin effects have been investigating using monkeys as a model for assessment of dioxin exposure on human health. Since 1957 the limb malformations of monkeys in Japan have been reported. The higher frequency of them was found in provisional groups of monkeys who were given the same kind of food for human. The chromosomal abnormalities are excluded from the factor for the congenital limb malformations that are still producing in Japan. In this study, the relations between dioxin and the limb malformations of macaque monkeys were estimated by the epidemiological and administered researches. The dioxin levels in monkeys were measured at two districts that one has the provisional groups including monkeys with limb malformations and the other has breeding groups never seeing the malformations for a long time. TEQ was calculated by the levels of dioxin isomers in the monkeys and the values show no difference between the two places and between the individuals with and without the limb malformations. 2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) was administered via subcutaneous to pregnant rhesus monkeys from the day 20 of gestation to the day 90 after birth. The exposed babies, including the offspring and died in neonatal, had observed normal limbs in the range of 30-300 ng TCDD /kg of body weight.

  9. Severe malformations of eelpout (Zoarces viviparus) fry are induced by maternal estrogenic exposure during early embryogenesis.

    Science.gov (United States)

    Morthorst, Jane E; Korsgaard, Bodil; Bjerregaard, Poul

    2016-02-01

    Pregnant eelpout were exposed via the water to known endocrine disrupting compounds (EDCs) to clarify if EDCs could be causing the increased eelpout fry malformation frequencies observed in coastal areas receiving high anthropogenic input. The presence of a teratogenic window for estrogen-induced malformations was also investigated by starting the exposure at different times during eelpout pregnancy. Both 17α-ethinylestradiol (EE2) (17.8 ng/L) and pyrene (0.5 μg/L) significantly increased fry malformation frequency whereas 4-t-octylphenol (4-t-OP) up to 14.3 μg/L did not. Vitellogenin was significantly induced by EE2 (5.7 and 17.8 ng/L) but not by 4-t-OP and pyrene. A critical period for estrogen-induced fry malformations was identified and closed between 14 and 22 days post fertilization (dpf). Exposure to 17β-estradiol (E2) between 0 and 14 dpf caused severe malformations and severity increased the closer exposure start was to fertilization, whereas malformations were absent by exposure starting later than 14 dpf. Data on ovarian fluid volume and larval length supported the suggested teratogenic window. Larval mortality also increased when exposure started right after fertilization.

  10. Cancer risk in siblings of children with congenital malformations

    DEFF Research Database (Denmark)

    Sun, Yuelian; Wu, Chunsen; Arah, Onyebuchi A

    2016-01-01

    with a CM using a Cox proportional hazards regression model. To control for confounding related to change of family structure, we estimated cancer risks for children from core families and children from broken families separately. Children were followed from birth up to 30 years of age (median follow-up 13...... but had a full or half sibling with a congenital malformation (CM) diagnosed in the first year of life; this constituted the exposed group, while children whose siblings had no such condition constituted a reference group. We estimated cancer risks for children who had a full sibling or a half sibling...... a full sibling with a CM in the nervous system (HR=2.61, 95%CI:1.60-4.27) or in the eye, ear, face, or neck (HR=2.47, 95%CI: 1.46-4.18). Children who had a half sibling with a CM seemed to have a higher cancer risk in early adulthood (HR=1.87, 95%CI: 0.98-3.56). CONCLUSIONS: Children who had a full...

  11. Familial disseminated cutaneous glomuvenous malformation: Treatment with polidocanol sclerotherapy

    Directory of Open Access Journals (Sweden)

    Aditi Jha

    2016-01-01

    Full Text Available Glomuvenous malformations (GVMs present as asymptomatic multiple pink-to-blue nodules or plaques. Disseminated lesions are rare, representing 10% of all the cases. Familial cases are caused by mutations in the glomulin gene. A young male presented with multiple bluish-to-dusky red-coloured nodules 10-15 in numbers over the trunk, limbs and buttocks since 12 years of age. They ranged in size from 1 to 3 cm, partially to non-compressible and tender on palpation. There was no history of any systemic complaint. His sister and mother had similar lesions but in a limited distribution. Biopsy showed multiple ectatic dilated vascular channels lined by multiple layers of glomus cells consistent with the diagnosis of GVM. The biopsy of the lesions from the mother and sister also showed similar features. Mutation analysis for glomulin gene could not be done because of the unavailability of the facility at our setting. He underwent sclerotherapy with 3% polidocanol every 2 weeks, and there was significant improvement in the lesions after six sessions of sclerotherapy. The patient is under follow-up and there is no recurrence of the lesions over treated sites after 6 months.

  12. Association of anorectal malformation with anal and rectal duplication

    Directory of Open Access Journals (Sweden)

    Karla A. Santos-Jasso

    2014-08-01

    We present three cases of rectal duplications with anorectal malforma- tion with recto-perineal fistula and colonic duplication. Two of them with delayed diagnosis and bowel obstruction, treated with laparotomy, colostomy and side-to-side anastomosis of the proximal colonic duplica- tion; in the third case the diagnosis of the colonic and rectal duplication was made during a colostomy opening. For definitive correction, the three patients underwent abdomino-perineal approach and side-to-side anastomosis of the rectal duplication, placement of the rectum within the muscle complex, and later on colostomy closure. In a fourth patient with anorectal malformation and colostomy after birth, the perineal electro-stimulation showed two muscle complexes. A posterior sagittal approach in both showed two separate blind rectal pouches; an end- to-side anastomosis of the dilated rectum was made, and the muscle complex with stronger contraction was used for the anoplasty. The posterior sagittal approach is the best surgical option to preserve the muscle complex, with a better prognosis for rectal continence.

  13. Surgical management of cavernous malformations coursing with drug resistant epilepsy

    Directory of Open Access Journals (Sweden)

    Mario Arturo Alonso-Vanegas

    2012-01-01

    Full Text Available Cerebral cavernous malformations (CM are dynamic lesions characterized by continuous size changes and repeated bleeding. When involving cortical tissue, CM pose a significant risk for the development of drug-resistant epilepsy, which is thought to be result of an altered neuronal network caused by the lesion itself and its blood degradation products. Preoperative evaluation should comprise a complete seizure history, neurological examination, epilepsy-oriented MRI, EEG, video-EEG, completed with SPECT, PET, functional MRI and/or invasive monitoring as needed. Radiosurgery shows variable rates of seizure freedom and a high incidence of complications, thus microsurgical resection remains the optimal treatment for CM coursing with drug-resistant epilepsy.Two thirds of patients reach Engel I class at three-year follow-up, regardless of lobar location. Those with secondarily generalized seizures, a higher seizure frequency, and generalized abnormalities on preoperative or postoperative EEG, show poorer outcomes, while factors such as gender, duration of epilepsy, lesion size, age, bleeding at the time of surgery, do not correlate consistently with seizure outcome. Electrocorticography and a meticulous removal of all cortical hemosiderin –beyond pure lesionectomy– reduce the risk of symptomatic recurrences.

  14. Seizure Outcomes in Patients With Surgically Treated Cerebral Arteriovenous Malformations.

    Science.gov (United States)

    von der Brelie, Christian; Simon, Matthias; Esche, Jonas; Schramm, Johannes; Boström, Azize

    2015-11-01

    Epilepsy is the second most common symptom in cerebral arteriovenous malformation (AVM) patients. The consecutive reduction of life quality is a clinically underrated problem because treatment usually focuses on the prevention of intracerebral hemorrhage. To evaluate postoperative seizure outcome with the aim of more accurate counseling for postoperative seizure outcome. From 1985 to 2012, 293 patients with an AVM were surgically treated by J.S. One hundred twenty-six patients with preoperative seizures or epilepsy could be identified; 103 of 126 had a follow-up of at least 12 months and were included in the analysis. The different epilepsy subtypes were categorized (sporadic seizures, chronic epilepsy, drug-resistant epilepsy [DRE]). Preoperative workup and surgical technique were evaluated. Seizure outcome was analyzed by using International League Against Epilepsy classification. Sporadic seizures were identified in 41% of patients (chronic epilepsy and DRE were identified in 36% and 23%, respectively). Detailed preoperative epileptological workup was done in 13%. Seizure freedom was achieved in 77% (79% at 5 years, 84% at 10 years). Outcome was significantly poorer in DRE cases. More extensive resection was performed in 11 cases with longstanding symptoms (>24 months) and resulted in better seizure outcome as well as the short duration of preoperative seizure history. Patients presenting with AVM-associated epilepsy have a favorable seizure outcome after surgical treatment. Long-standing epilepsy and the progress into DRE markedly deteriorate the chances to obtain seizure freedom and should be considered an early factor in establishing the indication for AVM removal.

  15. [Ultrasonographic diagnosis of polyhydramnios and its association with congenital malformations].

    Science.gov (United States)

    Romero Gutierrez, G; Fuentes Paramo, H; Membrila Alfaro, E; Vargas Huerta, M

    1996-01-01

    We carried out a prospective study at the Hospital de Gineco-Obstetricia del Instituto Mexicano del Seguro Social, in León, Guanajuato in order to evaluate the association between polyhydramnios and fetal congenital anomalies. 200 women were included, 100 with polyhydramnios and 100 with normal amniotic fluid (control group). The diagnosis of polyhydramnios was made with ultrasound scanning using maximum vertical pocket technique and amniotic fluid index. The patients with polyhydramnios had an average maximum vertical pocket of 9.3 centimeters and amniotic fluid index of 27.0 centimeters. In patients with polyhydramnios 24 cases of congenital malformations were found, and none in patients with normal amniotic fluid (P < 0.01). The most common fetal anomalies were: esophageal atresia (25%), anencephaly (21%) and ductus arteriosus (21%). There were six perinatal deaths in the group of patients with polyhydramnios, five of them had congenital abnormalities, on the other hand in the control group there were no perinatal deaths (P < 0.01). Owing to the signifficative association between polyhydramnios and congenital anomalies, we suggest to reinforce the ultrasound evaluation in order to detect these abnormalities and to offer an early treatment and therefore a better prognosis to the fetus.

  16. Bisphenol A induces otolith malformations during vertebrate embryogenesis

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    Demeneix Barbara

    2011-01-01

    Full Text Available Abstract Background The plastic monomer and plasticizer bisphenol A (BPA, used for manufacturing polycarbonate plastic and epoxy resins, is produced at over 2.5 million metric tons per year. Concerns have been raised that BPA acts as an endocrine disruptor on both developmental and reproductive processes and a large body of evidence suggests that BPA interferes with estrogen and thyroid hormone signaling. Here, we investigated BPA effects during embryonic development using the zebrafish and Xenopus models. Results We report that BPA exposure leads to severe malformations of the otic vesicle. In zebrafish and in Xenopus embryos, exposure to BPA during the first developmental day resulted in dose-dependent defects in otolith formation. Defects included aggregation, multiplication and occasionally failure to form otoliths. As no effects on otolith development were seen with exposure to micromolar concentrations of thyroid hormone, 17-ß-estradiol or of the estrogen receptor antagonist ICI 182,780 we conclude that the effects of BPA are independent of estrogen receptors or thyroid-hormone receptors. Na+/K+ ATPases are crucial for otolith formation in zebrafish. Pharmacological inhibition of the major Na+/K+ ATPase with ouabain can rescue the BPA-induced otolith phenotype. Conclusions The data suggest that the spectrum of BPA action is wider than previously expected and argue for a systematic survey of the developmental effects of this endocrine disruptor.

  17. Congenital malformations and genetic diseases in comic books.

    Science.gov (United States)

    Mégarbané, A; Adib, S M

    2003-01-01

    Medical syndromes have often been represented in fine arts, but rarely have clinical diagnoses been discussed in comic book characters. Since their first appearance in Europe in the middle of the 19th century and in America in 1895, comic books have been considered as "the 9th art". In many comic books, the appearance and/or the behavior of central or support characters are suggestive of already well-defined medical disorders. The representation of five particular groups or clinical features: mental retardation, abnormal stature, abnormal hair, obesity, and cranial malformations is discussed from mostly European comic series. Whether comic authors intended to describe specific clinical entities while drawing their characters or whether such situations appeared by mere luck, is open to debate. In many series from the first half of the 20th century characters with remarkable clinical features were also painted as psycho-social deviants. Such stereotypes are found much less frequently nowadays. Writers of comic books, realizing the major impact of their work especially in adolescent age groups, have increasingly been using their series to actually promote issues of equity and well being for physically or mentally impaired people.

  18. Absolute Ethanol Embolization of Arteriovenous Malformations in the Periorbital Region

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    Su, Li-xin, E-mail: sulixin1975@126.com [Shanghai Jiao Tong University School of Medicine, Department of Oral and Maxillofacial & Head and Neck Oncology, Ninth People’s Hospital (China); Jia, Ren-Bing, E-mail: jrb19760517@hotmail.com [Shanghai Jiao Tong University School of Medicine, Department of Ophthalmology, Ninth People’s Hospital (China); Wang, De-Ming, E-mail: wdmdeming@hotmail.com; Lv, Ming-Ming, E-mail: lvmingming001@163.com; Fan, Xin-dong, E-mail: fanxindong@aliyun.com [Shanghai Jiao Tong University School of Medicine, Department of Radiology, Ninth People’s Hospital (China)

    2015-06-15

    ObjectiveArteriovenous malformations (AVMs) involving the periorbital region are technically challenging clinical entities to manage. The purpose of the present study was to present our initial experience of ethanol embolization in a series of 16 patients with auricular AVMs and assess the outcomes of this treatment.MethodsTranscatheter arterial embolization and/or direct percutaneous puncture embolization were performed in the 16 patients. Pure or diluted ethanol was manually injected. The follow-up evaluations included physical examination and angiography at 1- to 6-month intervals.ResultsDuring the 28 ethanol embolization sessions, the amount of ethanol used ranged from 2 to 65 mL. The obliteration of ulceration, hemorrhage, pain, infection, pulsation, and bruit in most of the patients was obtained. The reduction of redness, swelling, and warmth was achieved in all the 16 patients, with down-staging of the Schobinger status for each patient. AVMs were devascularized 100 % in 3 patients, 76–99 % in 7 patients, and 50–75 % in 6 patients, according to the angiographic findings. The most common complications were necrosis and reversible blister. No permanent visual abnormality was found in any of the cases.ConclusionEthanol embolization is efficacious and safe in the treatment of AVMs in the periorbital region and has the potential to be accepted as the primary mode of therapy in the management of these lesions.

  19. Turner syndrome with spinal hemorrhage due to vascular malformation.

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    Yu, Min Kyung; Jung, Mo Kyung; Kim, Ki Eun; Kwon, Ah Reum; Chae, Hyun Wook; Kim, Duk Hee; Kim, Ho-Seong

    2015-12-01

    Turner syndrome (TS) is a relatively common chromosomal disorder and is associated with a range of comorbidities involving the cardiovascular system. Vascular abnormalities, in particular, are a common finding in cases of TS. However, dissection involving the vertebral arteries is rare. Here, we report the case of a 9-year-old girl with TS who had been treated with growth hormone replacement therapy for the past 3 years. She presented with weakness of both lower legs, and was ultimately diagnosed with spinal hemorrhage due to vascular malformation. We treated her with intravenous high dose dexamethasone (0.6 mg/kg) and she could walk without assistance after 6 days of treatment. In conclusion, when a patient with TS shows sudden weakness of the lower limbs, we should consider the possibility of spinal vessel rupture and try to take spine magnetic resonance imaging as soon as possible. We suggest a direction how to make a proper diagnosis and management of sudden vertebral artery hemorrhage in patients with TS.

  20. Identification of complex vertebral malformation carriers in Chinese Holstein.

    Science.gov (United States)

    Chu, Qin; Sun, Dongxiao; Yu, Ying; Zhang, Yi; Zhang, Yuan

    2008-03-01

    Complex vertebral malformation (CVM) is a monogenic autosomal recessive hereditary defect of Holstein dairy cattle. It is caused by a point mutation from G to T at the nucleotide position 559 in bovine solute carrier family 35, member 3 gene (SLC35A3), which changes the amino acid sequence of uridine 5'-diphosphate-N-acetylglucosamine transporter protein from a valine to a phenylalanine in position 180. The elite U.S. Holstein sire Penstate Ivanhoe Star was identified as the common ancestor of the current CVM carriers. Because his offspring, mainly those of Carlin-M Ivanhoe Bell, were used in many countries, CVM has potentially spread into China. In the present study, using the polymerase chain reaction-single-stranded conformational polymorphism (PCR-SSCP) technique, 10 CVM carriers were found among 68 at-risk Chinese Holstein bulls, and 282 carriers were found among 602 at-risk cows. The results of this study indicate that the CVM gene exists in the Chinese Holstein population.

  1. Endovascular and microsurgical treatment of cerebral arteriovenous malformations: Current recommendations

    Science.gov (United States)

    Conger, Andrew; Kulwin, Charles; Lawton, Michael T.; Cohen-Gadol, Aaron A.

    2015-01-01

    Background: Cerebral arteriovenous malformations (AVMs) can be a heterogeneous pathological entity whose management requires a complex decision-making process due to the risks associated with their treatment and natural history. Despite the recently published conclusions of the aborted Randomized Trial of Brain Unruptured AVMs (ARUBA) trial, the authors of this article believe multimodality intervention in general and microsurgical resection in particular continue to play a major role in the management of carefully selected ruptured or unruptured AVMs. Methods: The authors provide an overview of their methodology for endovascular intervention and microsurgical resection and share their technical nuances for successful embolization and microsurgical resection of AVMs with special emphasis on complication avoidance. Results: The authors have achieved successful outcomes in embolization and resection of cerebral AVMs when using their methodology. Conclusions: These lesions are among the most technically difficult pathological entities handled by the cerebrovascular specialist, and an overview of technical concepts to help systematize this challenging and variable endeavor can improve the safety of their treatment. PMID:25883831

  2. Cerebral cavernous malformations: clinical insights from genetic studies.

    Science.gov (United States)

    Mindea, Stefan A; Yang, Benson P; Shenkar, Robert; Bendok, Bernard; Batjer, H Hunt; Awad, Issam A

    2006-07-15

    Familial disease is responsible for one third to one half of cerebral cavernous malformation (CCM) cases presenting to clinical attention. Much has been learned in the past decade about the genetics of these cases, which are all inherited in an autosomal dominant pattern, at three known chromosome loci. Unique features of inherited CCMs in Hispanic-Americans of Mexican descent have been described. The respective genes for each locus have been identified and preliminary observations on disease pathways and mechanisms are coming to light, including possible explanations for selectivity of neural milieu and relationships to endothelial layer abnormalities. Mechanisms of lesion genesis in cases of genetic predisposition are being investigated, with evidence to support a two-hit model emerging from somatic mutation screening of the lesions themselves and from lesion formation in transgenic murine models of the disease. Other information on potential inflammatory factors has emerged from differential gene expression studies. Unique phenotypic features of solitary versus familial cases have emerged: different associations with venous developmental anomaly and the exceptionally high penetrance rates that are found in inherited cases when high-sensitivity screening is performed with gradient echo magnetic resonance imaging. This information has changed the landscape of screening and counseling for patients and their families, and promises to lead to the development of new tools for predicting, explaining, and modifying disease behavior.

  3. ADVANCED MAGNETIC RESONANCE IMAGING OF CEREBRAL CAVERNOUS MALFORMATIONS

    Science.gov (United States)

    Shenkar, Robert; Venkatasubramanian, Palamadai N.; Wyrwicz, Alice M.; Zhao, Jin-cheng; Shi, Changbin; Akers, Amy; Marchuk, Douglas A.; Awad, Issam A.

    2008-01-01

    Objective We sought to assess the appearance of cerebral cavernous malformations (CCMs) on magnetic resonance (MR) imaging in murine Ccm1 and Ccm2 gene knockout models, and to develop a technique of lesion localization for correlative pathobiologic studies Methods Brains from eighteen CCM mutant mice (Ccm1+/-Trp53-/- and Ccm2+/-Trp53-/-) and 28 controls were imaged by gradient recalled echo (T2*)-weighted MR at 4.7 T and 14.1 T in vivo and/or ex vivo. After MR imaging, the brains were removed and stained with hematoxylin and eosin and cells were laser microdissected for molecular biologic studies. Results T2*-weighted MR imaging of brains in vivo and ex vivo revealed lesions similar to human CCMs in mutant mice, but not in control animals. Stereotactic localization and hematoxylin and eosin-staining of correlative tissue sections confirmed lesion histology, and revealed other areas of dilated capillaries in the same brains. Some lesions were identified by MR imaging at 14.1 T, but not at 4.7 T. PCR amplification from Ccm1 and β-actin genes was demonstrated from nucleic acids extracted from laser microdissected lesional and perilesional cells. Conclusions The high field MR imaging techniques offer new opportunities for further investigation of disease pathogenesis in vivo, and the localization, staging and histobiologic dissection of lesions, including the presumed earliest stages of CCM lesion development. PMID:18981891

  4. Type II Congenital Pulmonary Airway Malformation in an Esophageal Lung

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    Blanca Estela Martínez-Martínez

    2013-01-01

    Full Text Available A seven-month-old girl, born prematurely (birth weight 1000 g from a twin pregnancy, was admitted to hospital due to recurrent pneumonia and atelectasis. She experienced cough and respiratory distress during feeding. The right hemithorax was smaller than the left, with diminished breath sounds and dullness. Chest x-rays revealed decreased lung volume and multiple radiolucent images in the right lung, as well as overdistention of the left lung. An esophagogram revealed three bronchial branches arising from the lower one-third of the esophagus, corresponding to the right lung and ending in a cul-de-sac. A diagnosis of esophageal lung was established. On bronchography, the right lung was absent and the trachea only continued into the left main bronchus. Echocardiography and angiotomography revealed agenesis of the pulmonary artery right branch. The surgical finding was an esophageal right lung, which was removed; the histopathological diagnosis was type II congenital pulmonary airway malformation in an esophageal lung.

  5. Limited PCB antagonism of TCDD-induced malformations in mice

    Energy Technology Data Exchange (ETDEWEB)

    Morrissey, R.E.; Harris, M.W.; Diliberto, J.J.; Birnbaum, L.S.

    1992-01-01

    Mice used to model induction of cleft palate and kidney malformations in offspring following maternal treatment with TCDD, were dosed on gestation day with hexachlorobiphenyl (HCB) and/or with tetrachlorodibenzo-p-dioxin (TCDD) to investigate the potential protective effects of HCB against TCDD-induced teratogenicity. At the doses used in the study, there was no effect of either compound on number of live or dead offspring. Fetal body weight was slightly decreased in all groups dosed with = or > 250 mg HCB/kg. HCB did not induce cleft palate at a dose of 1000 mg/kg, but did induce increases in hydronephrosis and hydroureter at 500 and 1000 mg/kg. Combinations of HCB and TCDD decreased the incidence of cleft palate induced by TCDD alone, but only at doses of 15 microgram TCDD/kg combined with 125-500 mg HCB/kg. The window for antagonism of hydronephrosis (incidence and severity) appeared narrower (15 microgram TCDD/kg + 500 mg HCB/kg). HCB induced increases (3 fold) in EROD activity at doses of 500 and 1000 mg/kg, suggesting that the limited antagonism of TCDD teratogenicity by HCB would be consistent with control by Ah receptor. (Copyright (c) 1992 Elsevier Science Publishers B.V.)

  6. [Mandibular distraction osteogenesis in patients with craniofacial malformation].

    Science.gov (United States)

    Marañés Gálvez, C; Martínez Plaza, A; Fernández Valadés, R; Liceras Liceras, E; Martín Cano, F; Cortés Sánchez, R; Martínez Tellería, A; Cabello, A; García Medina, B

    2011-04-01

    Craniofacial malformations (Pierre-Robin sequence, Treacher-Collins syndrome, Nager syndrome, etc.) are frequently associated to severe mandibular hypoplasia, which can cause upper airway obstruction by retroposition of the base of the tongue in the posterior pharyngeal space. Most of the patients respond to postural treatment. In prone decubitus position, it may be necessary to monitor oxygen saturation, insert a nasopharyngeal tube and even an endotracheal one. In more severe cases with prolonged and frequent pauses of apnea, tracheostomy may be necessary, but it is associated with high morbidity and sometimes mortality. In the last two years, in the Multidisciplinary Cleft Lip and Palate Unit of the Hospital Virgen de las Nieves, 4 children with severe obstructive apnea secondary to severe mandibular hypoplasia have been treated with mandibular distraction osteogenesis, this procedure being effective in the resolution of the condition. It has avoided tracheostomy, it has lengthened the jaw in a period of 2-3 weeks. During this time, the obstructive respiratory problems and also swallowing problems have disappeared. The esthetic results were excellent and the complications, for the moment, minimum.

  7. Stereotactic radiosurgery for intracranial arteriovenous malformations: A review

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    Ranjith K Moorthy

    2015-01-01

    Full Text Available Stereotactic radiosurgery (SRS has proven to be an effective strategy in the management of intracranial arteriovenous malformations (AVMs in children and adults over the past three decades. Its application has resulted in lowering the morbidity and mortality associated with treatment of deep-seated AVMs. SRS has been used as a primary modality of therapy as well as in conjunction with embolization and microsurgery in the management of AVMs. The obliteration rate after SRS has been reported to range from 35% to 92%. Smaller AVMs receiving higher marginal doses have obliteration rates of 70% and more. The median follow-up reported in most series is approximately 36–40 months. The median time to obliteration has been reported to be approximately 24–36 months in most series. Radiation-induced neurological complications have been reported in less than 10% of patients, with a 1.5%–6% risk of developing a new permanent neurological deficit. The bleeding rate during the latency to obliteration has been reported to be approximately 5%. This review describes the experience reported in literature with respect to the indications, dosage, factors affecting obliteration rate of AVMs, and complications after SRS.

  8. Fractal dimension analysis of cerebellum in Chiari Malformation type I.

    Science.gov (United States)

    Akar, Engin; Kara, Sadık; Akdemir, Hidayet; Kırış, Adem

    2015-09-01

    Chiari Malformation type I (CM-I) is a serious neurological disorder that is characterized by hindbrain herniation. Our aim was to evaluate the usefulness of fractal analysis in CM-I patients. To examine the morphological complexity features of this disorder, fractal dimension (FD) of cerebellar regions were estimated from magnetic resonance images (MRI) of 17 patients with CM-I and 16 healthy control subjects in this study. The areas of white matter (WM), gray matter (GM) and cerebrospinal fluid (CSF) were calculated and the corresponding FD values were computed using a 2D box-counting method in both groups. The results indicated that CM-I patients had significantly higher (p<0.05) FD values of GM, WM and CSF tissues compared to control group. According to the results of correlation analysis between FD values and the corresponding area values, FD and area values of GM tissues in the patients group were found to be correlated. The results of the present study suggest that FD values of cerebellar regions may be a discriminative feature and a useful marker for investigation of abnormalities in the cerebellum of CM-I patients. Further studies to explore the changes in cerebellar regions with the help of 3D FD analysis and volumetric calculations should be performed as a future work.

  9. Phosphorus magnetic resonance spectroscopy in malformations of cortical development

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    Celi Santos Andrade

    2013-07-01

    Full Text Available Introduction Malformations of cortical development (MCD result from disruptions in the dynamic process of cerebral corticogenesis and are important causes of epilepsy, motor deficits and cognitive impairment. Objectives The aim of this study was to evaluate phospholipids metabolism in vivo in a series of patients with epilepsy and MCD. Methods Thirty-seven patients with MCD and 31 control subjects were studied using three-dimensional phosphorus magnetic resonance spectroscopy (31P-MRS at a 3.0 T scanner. Quantification methods were applied to the following resonances: phosphoethanolamine (PE, phosphocholine (PC, glycerophosphoethanolamine (GPE, glycerophosphocholine (GPC, inorganic phosphate (Pi, phosphocreatine (PCr, and a-, b-, and g-adenosine triphosphate (ATP. The magnesium (Mg2+ levels and pH were calculated based on PCr, Pi and b-ATP chemical shifts. Results Compared to controls, the MCD lesions exhibited lower pH values and higher Mg2+ levels (p<0.05. The lesions also presented significant reduction of GPC and PDE, and an increased PME/PDE ratio. The otherwise normal appearing parenchyma also demonstrated lower pH values in the frontoparietal cortex and bilateral centrum semiovale. Conclusions Our data support the idea that metabolic impairments occur in the lesions of MCD, with propagation to remote normal appearing parenchyma. The results also suggest that there are membrane turnover disturbances in MCD lesions.

  10. Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

    Science.gov (United States)

    Poduri, Annapurna; Evrony, Gilad D.; Cai, Xuyu; Elhosary, Princess Christina; Beroukhim, Rameen; Lehtinen, Maria K.; Hills, L. Benjamin; Heinzen, Erin L.; Hill, Anthony; Hill, R. Sean; Barry, Brenda J.; Bourgeois, Blaise F.D.; Riviello, James J.; Barkovich, A. James; Black, Peter M.; Ligon, Keith L.; Walsh, Christopher A.

    2012-01-01

    Summary Hemimegalencephaly (HMG) is a developmental brain disorder characterized by an enlarged, malformed cerebral hemisphere, typically causing epilepsy that requires surgical resection. We studied resected HMG tissue to test whether the condition might reflect somatic mutations affecting genes critical to brain development. We found that 2/8 HMG samples showed trisomy of chromosome 1q, encompassing many genes, including AKT3, which is known to regulate brain size. A third case showed a known activating mutation in AKT3 (c.49G→A, creating p.E17K) that was not present in the patient’s blood cells. Remarkably, the E17K mutation in AKT3 is exactly paralogous to E17K mutations in AKT1 and AKT2 recently discovered in somatic overgrowth syndromes. We show that AKT3 is the most abundant AKT paralogue in brain during neurogenesis and that phosphorylated AKT is abundant in cortical progenitor cells. Our data suggest that somatic mutations limited to brain could represent an important cause of complex neurogenetic disease. PMID:22500628

  11. Management of supratentorial cavernous malformations: craniotomy versus gammaknife radiosurgery.

    Science.gov (United States)

    Shih, Yang-Hsin; Pan, David Hung-Chi

    2005-02-01

    Although craniotomy is the preferred treatment for symptomatic solitary supratentorial cavernous malformation (CM), radiosurgery is also an option. Our aim was to see which of these strategies was the most effective and under what circumstances. Of the 46 patients with solitary supratentorial CM that we retrospectively studied, 24 presented with seizures, 16 with focal neurological deficits due to intracerebral hemorrhage, and 6 with both seizures and bleeding. Sixteen were treated with craniotomy and 30 with gammaknife radiosurgery (GKRS). The main outcome measures for comparing craniotomy with GKRS were the proportion of postoperative seizure-free patients and the proportion of patients in whom no rebleeding occurred. Of patients presenting with seizures with/without bleeding, a significantly higher proportion of the craniotomy group than the GKRS group became and remained seizure-free (11/14 [79%] versus 4/16 [25%]; P < 0.002), and of those presenting with bleeding with/without seizures, a somewhat (though nonsignificantly) higher proportion did not rebleed (4/4 [100%] versus 12/18 [67%]) after surgery. The remaining 2 of the 16 craniotomy patients did not rebleed and had no residual tumor at follow up. Twelve of the 30 GKRS patients had evidence of tumor regression at follow up. In the clinical management of solitary supratentorial CM, craniotomy for lesionectomy resulted in better seizure control and rebleeding avoidance than GKRS.

  12. Mutations of connexin43 in fetuses with congenital heart malformations

    Institute of Scientific and Technical Information of China (English)

    CHEN Ping; XIE Li-jian; HUANG Guo-ying; ZHAO Xiao-qing; CHANG Cai

    2005-01-01

    Background Gap junction channels formed by connexin43 (Cx43) protein are important in cardiac morphogenesis, and Cx43 gene is thought to be associated with congenital heart malformation (CHM). This study was undertaken to detect the mutations of Cx43 in fetuses with CHM.Methods Cx43 extron DNA was amplified by PCR from 16 fetuses with a variety of CHM. The PCR products were analyzed by SSCP and DNA sequencing. Thirty children who had no CHM were selected as controls. Results Eight homozygous mutations of Cx43 were observed in a fetus with double outlet right ventricule (DORV), five of the 8 mutations were missense mutations including Arg239Trp, Ser251Thr, Ala253Pro, Pro283Leu and Thr290Asn, and the remaining 3 were silent polymorphisms including Gly252Gly, Pro256Pro and Thr275Thr. No mutations were found in other fetuses and the control group.Conclusions Mutations of Cx43 may be associated with congenital conotruncal anomalies. PCR-SSCP is an effective method for screening the mutations of Cx43.

  13. Cerebral Arteriovenous Malformation Flow Is Associated With Venous Intimal Hyperplasia.

    Science.gov (United States)

    Shakur, Sophia F; Hussein, Ahmed E; Amin-Hanjani, Sepideh; Valyi-Nagy, Tibor; Charbel, Fady T; Alaraj, Ali

    2017-04-01

    The pathogenesis of venous intimal hyperplasia and venous outflow stenosis associated with cerebral arteriovenous malformation (AVM) draining veins is poorly understood. We sought to determine the relationship between maximum vein wall thickness and AVM flow. Patients who underwent AVM surgical resection and had flow measured before treatment using quantitative magnetic resonance angiography were retrospectively reviewed. Specimens were mounted on slides and stained with elastin special stain. Perinidal veins were identified, and maximum wall thickness was measured from digitized images. Relationship between maximum vein wall thickness and AVM flow was assessed. Twenty-eight patients were included. Spearman correlation revealed a statistically significant relationship between maximum vein wall thickness and total AVM flow (ρ=+0.51; P=0.006), AVM flow per draining vein (ρ=+0.41; P=0.03), and mean intranidal vessel diameter (ρ=+0.39; P=0.04). Maximum vein wall thickness increases with higher total AVM flow and AVM flow per draining vein. This finding implicates chronically high AVM inflow in venous intimal hyperplasia. © 2017 American Heart Association, Inc.

  14. Optical Coherence Tomography in Patients with Chiari I Malformation

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    Michele Figus

    2015-01-01

    Full Text Available Background/Aims. To evaluate optic nerve head with spectral domain optical coherence tomography (OCT in patients with Chiari I malformation (CMI compared to healthy controls. Methods. Cross-sectional study. OCT of the optic nerve head of 22 patients with CMI and 22 healthy controls was quantitatively analyzed. The healthy controls were matched for age and sex with the study population. Mean retinal nerve fiber layer (RNFL thickness was calculated for both eyes; the mean thickness value was also registered for each quadrant and for each subfield of the four quadrants. Results. CMI patients showed a reduction of the RNFL thickness in both eyes. This reduction was more statistically significant (P<0.05 for the inferior quadrant in the right eye and in each quadrant than nasal one in the left eye. Conclusion. A distress of the retinal nerve fibers could explain the observed reduction of the RNFL thickness in patients with CMI; in our series the reduction of the RNFL thickness seems lower when CMI is associated with syringomyelia.

  15. Congenital frontonasal masses: developmental anatomy, malformations, and MR imaging

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    Hedlund, Gary [Primary Children' s Medical Center, Department of Medical Imaging, Salt Lake City, UT (United States)

    2006-07-15

    The newborn, infant, or young child who presents with a midline frontonasal mass often poses a diagnostic challenge to the clinician. The most pressing issue is whether the mass extends intracranially. The development of the frontonasal region or anterior neuropore is complex. Aberrant embryogenesis leads to three main types of anomalies: nasal dermal sinus, anterior cephalocele, and nasal glioma. Understanding the developmental anatomy of the anterior neuropore and postnatal maturation will serve the radiologist well when it comes to imaging frontonasal masses. Pitfalls particularly common to CT imaging interpretation include the evolving ossification of the frontal, nasal and ethmoid bones in the first year of life, morphology and size of the foramen cecum, and the natural intumescence of the anterior nasal septum. Determination of the presence of a connection between the frontonasal mass and the anterior cranial fossae is crucial in the imaging assessment and clinical management. In the case of the nasal dermal sinus, failure to appreciate the intracranial components of the malformation can lead to fatal meningitis. MR imaging is the modality of choice for assessing the pediatric frontonasal region. Its advantages include multiplanar imaging, distinguishing the interface among cartilage, bone, brain and fluid, diffusion imaging to detect epidermoid tumors, and the capacity to evaluate the brain for associated cerebral anomalies. (orig.)

  16. Congenital malformations in a fetus and a newborn according to the data of Perinatal Center of the Saratov region

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    Chernenkov Yu.V.

    2016-09-01

    Full Text Available The aim: to study the frequency of birth defects in Perinatal Center of the Saratov region from 2014 till 2015, the possibility of prognosing, early diagnosis and optimization of programs for the prevention and correction of congenital malformations, the evaluation of treatment outcomes. Materials and Methods. The study included newborn babies and fetuses with birth defects for the period 2014-2015 according to data received from Perinatal Center. The data on ultrasound examination of pregnant women and about 149 fetuses with malformations in case of early terminated pregnancies were analyzed. Results. In 2014 Perinatal Center of the Saratov region found 77 newborns with congenital malformations, in 2015-72; 24 children (16.1% required early surgical intervention. The comprehensive assessment of the health status of women and their children, the assessment of placental blood flow and fetal development, the identification of chromosomal and genetic abnormalities were conducted. 5 children of 149 children with congenital malformations died at the stage of the maternity hospital where average mortality accounted for 3.3%. Congenital malformations of central nervous system and sense organs accounted for 13.4%, malformations of the face and neck — 5.4%, malformations of the cardiovascular system — 28.8%, malformations of the respiratory system — 2.7%, malformations of the gastrointestinal tract — 4%, malformations of the musculoskeletal system — 9.4%, malformations of the urinary system — 27.5%, genital malformations — 4%, defects of the skin and its appendages — 1.3%, other malformations — 2.7%. Multiple malformations accounted for 4.7%. During 2014-2015 due to congenital malformations 311 births (4.4% were interrupted, the main cause was determined as chromosomal abnormalities. Training, diagnosis, management of pregnant women and their delivery is carried out in Perinatal Center of the Saratov region in accordance with the

  17. Risk of major congenital malformations associated with infertility and its treatment by extent of iatrogenic intervention.

    Science.gov (United States)

    Farhi, Jacob; Fisch, Benjamin

    2007-06-01

    Cumulative evidence from large cohort studies, multicenter studies, and meta-analyses suggests that assisted reproductive technologies are associated with an elevated risk of congenital malformations. Theoretically, there are several putative factors in infertility treatments which may be related to the development of congenital malformations. These include, in part, the exposure to gonadotrophin stimulation and the exposure to supra-physiological levels of E2; the altered physiological environment of implantation; the in-vitro culture conditions at early stages of embryonic development; the artificial selection of sperm for fertilization and the sperm injection process in ICSI and the process of embryo cryopreservation. However, it is also possible that the culprit is not the infertility treatment that leads to the increased risk of congenital malformations but a factor or factors inherent to infertile patients. The aim of this review is to present the current data, summarize it and define the association between major congenital malformation and different types of infertility treatments as well as to infertility per se. We conducted an extensive search of the medical literature (Pubmed, 1985-2006) to identify all data relating major congenital malformations to infertile couples, infertility treatments or to characteristics of the infertile population. The rates of congenital malformations associated with infertility were analyzed by the degree of iatrogenic intervention to better define the relative risks. The findings confirmed the increased risk of congenital malformations in relation to in vitro fertilization even in singleton infants. There was no difference in the occurrence of major congenital malformations by either the laboratory maneuvers of sperm or embryos of varying complexity or by the specific medications used for ovarian stimulation or luteal support. Increased risk for congenital malformations was also found in infertile couples in relation to

  18. Twenty-seven years follow-up of a patient with congenital retinocephalofacial vascular malformation syndrome and additional congenital malformations (Bonnet-dechaume-blanc syndrome or wyburn-mason syndrome

    Directory of Open Access Journals (Sweden)

    Schmidt D

    2010-02-01

    Full Text Available Abstract Purpose Follow-up of vascular changes in a patient with congenital retinocephalofacial vascular malformation syndrome. Methods MRI and cerebral angiography. Results In a 36-year-old man, magnetic resonance im aging of the skull and cerebral angiography revealed left intracranial arteriovenous malformations. Follow-up observation of 27 years revealed no essential change of retinal and cerebral arteriovenous malformations. Additional congenital deficits in this patient were described. Conclusion Patients with retinal arteriovenous malformations should be early examined with neuroradiological methods.

  19. Radiosurgery with linac based photon knife in cerebral arteriovenous malformation

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jin Hee; Choi, Tae Jin [College of Medicine, Keimyung Univ., Taegu (Korea, Republic of)

    2003-03-01

    The purpose of this study was to analyze the effect of a linear accelerator based Photon Knife Radiosurgery System developed by the staff of Keimyung University Dongsan Medical Center for the treatment of cerebral arteriovenous malformation. Between December 1993 and October 2000, 30 patients with cerebral arteriovenous malformation (AVM) were treated with the Linac based Photon Knife Radiosurgery System in the Department of Therapeutic Radiology at Keimyung University Dongsan Medical Center. The median age was 34, ranging from 7 to 63 years, with a 2: 1 male to female ratio. The locations of the AVM nidi were the frontal lobe (motor cortex), parietal lobe, and the thalamus, in that order. The diameters of the AVM nidi ranged 1.2 to 5.5 cm with a mean of 2.9 cm, and target volumes of between 0.5 and 20.6 cc, with a mean of 6.8 cc. The majority of patients received radiation doses of between 1,500 and 2,500 cGy, with a mean of 2,000 cGy, at 8O% the isodose line. Twenty-five patients were treated with one isocenter, 4 with two, and 1 with four. The follow-up radiological evaluations were performed with cranial computed tomogram (CT) or MRI between 6 month and one year interval, and if the AVM nidus had completely disappeared in the CT or MRI, we confirmed this was a complete obliteration, with a cerebral or magnetic resonance angiogram (MRA). The median follow-up period was 39 months with a range of 10 to 103 months. Twenty patients were radiologically followed up for over 20 months, with complete obliteration observed in 14 (70%). According to the maximal diameter. all four of the small AVM (<2 cm) completely obliterated, 8 of the 10 patients with a medium A VM (2 - 3 cm) showed a complete obliteration, and two showed partial obliteration, Among the patients with a large AVM (>3 cm), only one showed complete obliteration, and 5 showed partial obliteration, but 3 of these underwent further radiosurgery 3 years later. One who followed up for 20 months following

  20. Parasite (Ribeiroia ondatrae) infection linked to amphibian malformations in the western United States

    Science.gov (United States)

    Johnson, P.T.J.; Lunde, K.B.; Thurman, E.M.; Ritchie, E.G.; Wray, S.N.; Sutherland, D.R.; Kapfer, J.M.; Frest, T.J.; Bowerman, J.; Blaustein, A.R.

    2002-01-01

    Parasites and pathogens can influence the survivorship, behavior, and very structure of their host species. For example, experimental studies have shown that trematode parasites can cause high frequencies of severe limb malformations in amphibians. In a broad-scale field survey covering parts of California, Oregon, Washington, Idaho, and Montana, we examined relationships between the frequency and types of morphological abnormalities in amphibians and the abundance of trematode parasite infection, pH, concentrations of 61 pesticides, and levels of orthophosphate and total nitrate. We recorded severe malformations at frequencies ranging from 1% to 90% in nine amphibian species from 53 aquatic systems. Infection of larvae by the trematode Ribeiroia ondatrae was associated with, and functionally related to, higher frequencies of amphibian limb malformations than found in uninfected populations (≤5%). Parasites were concentrated around the basal tissue of hind limbs in infected anurans, and malformations associated with infection included skin webbings, supernumerary limbs and digits, and missing or malformed hind limbs. In the absence of Ribeiroia, amphibian populations exhibited low (0-5%) frequencies of abnormalities involving missing digits or distal portions of a hind limb. Species were affected differentially by the parasite, and Ambystoma macrodactylum, Hyla regilla, Rand aurora, R. luteiventris, and Taricha torosa typically exhibited the highest frequencies of abnormalities. None of the water-quality variables measured was associated with malformed amphibians, but aquatic snail hosts (Planorbella spp.) were significant predictors of the presence and abundance of Ribeiroia infection. Morphological comparisons of adult specimens of Ribeiroia collected from different sites and raised in experimental definitive hosts suggested that all samples represented the same species - R. ondatrae. These field results, coupled with experimental research on the effects of

  1. Mortality from Circulatory System Diseases and Malformations in Children in the State of Rio de Janeiro.

    Science.gov (United States)

    Salim, Thais Rocha; Soares, Gabriel Porto; Klein, Carlos Henrique; Oliveira, Glaucia Maria Moraes de

    2016-06-01

    The epidemiological profile of mortality in a population is important for the institution of measures to improve health care and reduce mortality Objective: To estimate mortality rates and the proportional mortality from cardiovascular diseases and malformations of the circulatory system in children and adolescents. This is a descriptive study of mortality from cardiovascular diseases, malformations of the circulatory system, from all causes, ill-defined causes and external causes in children and adolescents in the state of Rio de Janeiro from 1996 to 2012. Populations were obtained from the Brazilian Institute of Geography and Statistics (Instituto Brasileiro de Geografia e Estatística - IBGE) and deaths obtained from the Department of Informatics of the Unified Health System (DATASUS)/Ministry of Health. There were 115,728 deaths from all causes, 69,757 in males. The annual mortality from cardiovascular diseases was 2.7/100,000 in men and 2.6/100,000 in women. The annual mortality from malformations of the circulatory system was 7.5/100,000 in men and 6.6/100,000 in women. Among the specific causes of circulatory diseases, cardiomyopathies had the highest rates of annual proportional mortality, and from malformations of the circulatory system, it occurred due to unspecified malformations of the circulatory system, at all ages and in both genders. Mortality from malformations of the circulatory system was most striking in the first years of life, while cardiovascular diseases were more relevant in adolescents. Low access to prenatal diagnosis or at birth probably prevented the proper treatment of malformations of the circulatory system.

  2. Mortality from Circulatory System Diseases and Malformations in Children in the State of Rio de Janeiro

    Science.gov (United States)

    Salim, Thais Rocha; Soares, Gabriel Porto; Klein, Carlos Henrique; de Oliveira, Glaucia Maria Moraes

    2016-01-01

    Background The epidemiological profile of mortality in a population is important for the institution of measures to improve health care and reduce mortality Objective To estimate mortality rates and the proportional mortality from cardiovascular diseases and malformations of the circulatory system in children and adolescents. Methods This is a descriptive study of mortality from cardiovascular diseases, malformations of the circulatory system, from all causes, ill-defined causes and external causes in children and adolescents in the state of Rio de Janeiro from 1996 to 2012. Populations were obtained from the Brazilian Institute of Geography and Statistics (Instituto Brasileiro de Geografia e Estatística - IBGE) and deaths obtained from the Department of Informatics of the Unified Health System (DATASUS)/Ministry of Health. Results There were 115,728 deaths from all causes, 69,757 in males. The annual mortality from cardiovascular diseases was 2.7/100,000 in men and 2.6/100,000 in women. The annual mortality from malformations of the circulatory system was 7.5/100,000 in men and 6.6/100,000 in women. Among the specific causes of circulatory diseases, cardiomyopathies had the highest rates of annual proportional mortality, and from malformations of the circulatory system, it occurred due to unspecified malformations of the circulatory system, at all ages and in both genders. Conclusion Mortality from malformations of the circulatory system was most striking in the first years of life, while cardiovascular diseases were more relevant in adolescents. Low access to prenatal diagnosis or at birth probably prevented the proper treatment of malformations of the circulatory system. PMID:27192384

  3. Cochlear Implantation in Inner Ear Malformations: Systematic Review of Speech Perception Outcomes and Intraoperative Findings.

    Science.gov (United States)

    Farhood, Zachary; Nguyen, Shaun A; Miller, Stephen C; Holcomb, Meredith A; Meyer, Ted A; Rizk, And Habib G

    2017-03-01

    Objective (1) To analyze reported speech perception outcomes in patients with inner ear malformations who undergo cochlear implantation, (2) to review the surgical complications and findings, and (3) to compare the 2 classification systems of Jackler and Sennaroglu. Data Sources PubMed, Scopus (including Embase), Medline, and CINAHL Plus. Review Methods Fifty-nine articles were included that contained speech perception and/or intraoperative data. Cases were differentiated depending on whether the Jackler or Sennaroglu malformation classification was used. A meta-analysis of proportions examined incidences of complete insertion, gusher, and facial nerve aberrancy. For speech perception data, weighted means and standard deviations were calculated for all malformations for short-, medium-, and long-term follow-up. Speech tests were grouped into 3 categories-closed-set words, open-set words, and open-set sentences-and then compared through a comparison-of-means t test. Results Complete insertion was seen in 81.8% of all inner ear malformations (95% CI: 72.6-89.5); gusher was reported in 39.1% of cases (95% CI: 30.3-48.2); and facial nerve anomalies were encountered in 34.4% (95% CI: 20.1-50.3). Significant improvements in average performance were seen for closed- and open-set tests across all malformation types at 12 months postoperatively. Conclusions Cochlear implantation outcomes are favorable for those with inner ear malformations from a surgical and speech outcome standpoint. Accurate classification of anatomic malformations, as well as standardization of postimplantation speech outcomes, is necessary to improve understanding of the impact of implantation in this difficult patient population.

  4. Gamma knife radiosurgery for arteriovenous malformation in children

    Energy Technology Data Exchange (ETDEWEB)

    Tanaka, Takayuki; Kobayashi, Tatsuya [Komaki City Hospital, Aichi (Japan)

    1995-04-01

    Intracranial arteriovenous malformations (AVM) of 38 children were treated by gamma knife radiosurgery. Their clinical courses and the effect of the treatment in 19 patients who had angiographies are described. There were 21 boys and 17 girls with a mean age of 11.2 years. The initial signs and symptoms were: intracranial hemorrhage in 32, seizures in 4, and headache in 2. Prior to the radiosurgery, craniotomy was performed in 10 patients, ventricular drainage, in 8, ventriculoperitoneal shunting in 4, and intravascular embolization in 3. The AVM was in the parietal lobe in 8 patients, in the thalamus in 7, in the occipital lobe in 5, in the temporal lobe in 4, in the basal ganglia in 4, in the corpus callosum in 3, and in other locations in 8. The mean diameter of the nidus was 18.9 mm. According to Spetzler`s classification of AVM, 23 (60.5%) were grade III, 10 were grade II, 3 were grade IV, and 2 were grade VI. The mean maximum dose was 36.3 Gy, and the mean peripheral dose was 20.2 Gy. Follow-up angiography was done in 19 patients during a mean follow-up period of 14.9 months. Complete occlusion of the nidus was obtained within 1 year in 10 of 15 patients (67%). All 6 patients who underwent angiography 2 years after treatment showed complete obliteration of the AVM. Only 1 patient developed hemiparesis due to radiation necrosis. It is considered that occlusion of AVMs by gamma knife radiosurgery is probably more effective and safer in children than in adults. (author).

  5. Surgical Outcome of Adult Idiopathic Chiari Malformation Type 1

    Science.gov (United States)

    Yuh, Woon Tak; Kim, Chi Heon; Kim, Hyun-Jib; Jahng, Tae-Ahn; Park, Sung Bae

    2016-01-01

    Objective The pathophysiology of idiopathic Chiari malformation (CM) type 1 is disturbance of free cerebrospinal fluid (CSF) flow and restoration of normal CSF flow is the mainstay of treatment. Additional migration of the medulla oblongata in pediatric patients is referred to as CM type 1.5, but its significance in adult patients is unknown. This study is to compare surgical outcomes of adult idiopathic CM type 1.5 with that of type 1. Methods Thirty-eight consecutive adult patients (M : F=11 : 27; median, 33.5; range, 18–63) with syringomyelia due to idiopathic CM type 1 were reviewed. Migration of the medulla oblongata was noted in 13 patients. The modified McCormick scale (MMS) was used to evaluate functional status before and one year after surgery. All patients underwent foramen magnum decompression and duroplasty. Factors related to radiological success (≥50% decrease in the diameter of the syrinx) were investigated. The follow-up period was 72.7±55.6 months. Results Preoperative functional status were MMS I in 11 patients and MMS II in 14 of CM type 1 and MMS I in 8 and II in 5 of CM type 1.5. Of patients with MMS II, 5/14 patients in group A and 3/5 patients in group B showed improvement and there was no case of deterioration. Radiological success was achieved in 32 (84%) patients and restoration of the cisterna magna (p=0.01; OR, 46.5) was the only significant factor. Conclusion Migration of the medulla oblongata did not make a difference in the surgical outcome when the cisterna magna was restored. PMID:27651871

  6. Enrichment and training improve cognition in rats with cortical malformations.

    Directory of Open Access Journals (Sweden)

    Kyle R Jenks

    Full Text Available Children with malformations of cortical development (MCD frequently have associated cognitive impairments which reduce quality of life. We hypothesized that cognitive deficits associated with MCD can be improved with environmental manipulation or additional training. The E17 methylazoxymethanol acetate (MAM exposure model bears many anatomical hallmarks seen in human MCDs as well as similar behavioral and cognitive deficits. We divided control and MAM exposed Sprague-Dawley rats into enriched and non-enriched groups and tested performance in the Morris water maze. Another group similarly divided underwent sociability testing and also underwent Magnetic Resonance Imaging (MRI scans pre and post enrichment. A third group of control and MAM rats without enrichment were trained until they reached criterion on the place avoidance task. MAM rats had impaired performance on spatial tasks and enrichment improved performance of both control and MAM animals. Although MAM rats did not have a deficit in sociability they showed similar improvement with enrichment as controls. MRI revealed a whole brain volume decrease with MAM exposure, and an increase in both MAM and control enriched volumes in comparison to non-enriched animals. In the place avoidance task, MAM rats required approximately 3 times as long to reach criterion as control animals, but with additional training were able to reach control performance. Environmental manipulation and additional training can improve cognition in a rodent MCD model. We therefore suggest that patients with MCD may benefit from appropriate alterations in educational strategies, social interaction and environment. These factors should be considered in therapeutic strategies.

  7. Treatment and Outcome of Epileptogenic Temporal Cavernous Malformations

    Institute of Scientific and Technical Information of China (English)

    Yong-Zhi Shan; Xiao-Tong Fan; Liang Meng; Yang An; Jian-Kun Xu; Guo-Guang Zhao

    2015-01-01

    Background:The aim of this study is to explore the treatment and outcome ofepileptogenic temporal lobe cavernous malformations (CMs).Methods:We analyzed retrospectively the profiles of 52 patients diagnosed as temporal lobe CMs associated with epilepsy.Among the 52 cases,11 underwent a direct resection of CM along with the adjacent zone of hemosiderin rim without electrocorticogram (ECoG) monitoring while the other 41 cases had operations under the guidance of ECoG.Forty-six patients were treated by lesionectomy + hemosiderin rim while the other six were treated by lesionectomy + hemosiderin rim along with extended epileptogenic zone resection.The locations of lesions,the duration of illness,the manifestation,the excision ranges and the outcomes of postoperative follow-up were analyzed,respectively.Results:All of the 52 patients were treated by microsurgery.There was no neurological deficit through the long-term follow-up.Outcomes of seizure control are as follows:42 patients (80.8%) belong to Engel Class Ⅰ,5 patients (9.6%) belong to Engel Class Ⅱ,3 patients (5.8%) belong to Engel Class Ⅲ and 2 patients (3.8%) belong to Engel Class Ⅳ.Conclusion:Patients with epilepsy caused by temporal CMs should be treated as early as possible.Resection of the lesion and the surrounding hemosiderin zone is necessary.Moreover,an extended excision of epileptogenic cortex or cerebral lobes is needed to achieve a better prognosis if the ECoG indicates the existence of an extra epilepsy onset origin outside the lesion itself.

  8. Cystic adenomatoid malformation in children: CT histopathological correlation.

    Science.gov (United States)

    Lanza, C; Bolli, V; Galeazzi, V; Fabrizzi, B; Fabrizzi, G

    2007-06-01

    This study was performed to assess the accuracy of computed tomography (CT) in classifying the various types of cystic adenomatoid malformation (CAM) of the lung, as described by Stocker et al., taking histopathology as the gold standard. We retrospectively reviewed six cases of histologically proven CAM. Chest radiography, chest CT and histopathology results were available for all patients. The CT images were reviewed blinded to the histological findings, and attention was paid to the number and size of cysts so as to classify the lesions into the three groups described by Stocker et al. The classification of lesions based on the CT images was then correlated to the histopathological findings. Areas with small-sized cysts (2 cm) were seen in three cases (50%) whereas in the remaining case, the diagnosis was mixed type I and type II CAM. In one patient with type I CAM, an area of low-density consolidation around the cysts was interpreted as CAM in a context of pulmonary sequestration. The CT classification based on Stocker et al.'s categories was in agreement with the histopathological findings in four cases, whereas in the remaining two cases, the lesions were classed as type I or II on CT and as mixed (type I and II) lesions at histopathology. In one case, the CT classification was correct, but the histopathology revealed the coexistence of pulmonary sequestration. In our study, there was concordance between CT and histopathology in 66.7% of cases, whereas in 33.3% histopathology revealed areas with mixed grade lesions. CT proved to be accurate in identifying and characterising CAM and provided important information on lesion site and extension.

  9. Surgical treatment of Chiari I malformation complicated with syringomyelia

    Science.gov (United States)

    BAO, CHANGSHUN; YANG, FUBING; LIU, LIANG; WANG, BING; LI, DINGJUN; GU, YINGJIANG; ZHANG, SHULING; CHEN, LIGANG

    2013-01-01

    The aim of this study was to evaluate the curative effects of various surgical procedures on Chiari I malformation (CMI) complicated with syringomyelia. A total of 185 patients with CMI complicated with syringomyelia who received treatment between January 1997 and December 2011 were recruited. All patients underwent posterior fossa decompression in which the lamina of the first cervical vertebra was removed, with the removal of the second or third depending on the severity of the cerebellar tonsil herniation. Of the patients, 76 underwent large-bone-window decompression and duraplasty, while 109 underwent small-bone-window decompression, displaced cerebellar tonsil resection and duraplasty. The curative effects of the different surgical procedures were analyzed retrospectively. Clinical symptoms were eliminated or improved in 156 patients (84.3%) by the time of discharge from hospital. A total of 148 patients were evaluated using magnetic resonance imaging (MRI) which revealed that the cisterna magna was reconstructed in 92 patients and spinal syrinx was reduced in 75. Follow-up was performed on 147 patients (79.5%) for between 3 months and 12 years. During the follow-up, symptoms were eliminated or improved in 110 patients (74.8%), not improved in 26 (17.7%) and deteriorated in 11 (7.5%). MRI was performed on 95 patients during follow-up examinations and the cisterna magna was reconstructed in 87 patients and spinal syrinx was reduced in 79. Small-bone-window decompression plus duraplasty is an effective surgical procedure for treating CMI complicated with syringomyelia and intraoperative cerebellar tonsillectomy significantly aids patient recovery. PMID:23251294

  10. Outcome of cerebral arteriovenous malformations after linear accelerator reirradiation

    Science.gov (United States)

    Moraes, Paulo L.; Dias, Rodrigo S.; Weltman, Eduardo; Giordani, Adelmo J.; Benabou, Salomon; Segreto, Helena R. C.; Segreto, Roberto A.

    2015-01-01

    Background: The aim of this study was to evaluate the clinical outcome of patients undergoing single-dose reirradiation using the Linear Accelerator (LINAC) for brain arteriovenous malformations (AVM). Methods: A retrospective study of 37 patients with brain AVM undergoing LINAC reirradiation between April 2003 and November 2011 was carried out. Patient characteristics, for example, gender, age, use of medications, and comorbidities; disease characteristics, for example, Spetzler–Martin grading system, location, volume, modified Pollock–Flickinger score; and treatment characteristics, for example, embolization, prescription dose, radiation dose–volume curves, and conformity index were analyzed. During the follow-up period, imaging studies were performed to evaluate changes after treatment and AVM cure. Complications, such as edema, rupture of the blood–brain barrier, and radionecrosis were classified as symptomatic and asymptomatic. Results: Twenty-seven patients underwent angiogram after reirradiation and the percentage of angiographic occlusion was 55.5%. In three patients without obliteration, AVM shrinkage made it possible to perform surgical resection with a 2/3 cure rate. A reduction in AVM nidus volume greater than 50% after the first procedure was shown to be the most important predictor of obliteration. Another factor associated with AVM cure was a prescription dose higher than 15.5 Gy in the first radiosurgery. Two patients had permanent neurologic deficits. Factors correlated with complications were the prescription dose and maximum dose in the first procedure. Conclusion: This study suggests that single-dose reirradiation is safe and feasible in partially occluded AVM. Reirradiation may not benefit candidates whose prescribed dose was lower than 15.5 Gy in the first procedure and initial AVM nidus volume did not decrease by more than 50% before reirradiation. PMID:26110078

  11. Radiologic diagnosis and treatment of iatrogenic acquired uterine arteriovenous malformation

    Energy Technology Data Exchange (ETDEWEB)

    Kwon, Jung Hyeok [College of Medicine, Keimyung Univ., Taegu (Korea, Republic of)

    2002-05-01

    To analyze gray-scale US, color and duplex Doppler US, and angiographic findings in patients with acquired uterine arteriovenous malformations (AVMs), and to evaluate the usefulness of these modalities in the diagnosis of this disease and the effect of transcatheter arterial embolization in its treatment. During a recent seven-year period, we diagnosed 21 cases of acquired uterine AVM. Nineteen of these patients had a history of causative D and C (between one and seven D and C procedures per patient), one had a history of causative cesarean section, and one had cervical conization. All patients underwent transabdominal and endovaginal gray-scale, color Doppler, and duplex Doppler US and angiography, with therapeutic embolization of bilateral uterine arteries. The majority underwent follow-up Doppler US after embolization. The gray-scale US morphology of uterine AVMs included subtle myometrial inhomogeneity and multiple distinct, small anechoic spaces in the thickened myometrium or endometrium. Color Doppler US showed a tangle of tortuous vessels with multidirectional, high-velocity arterial flow, which was focally or asymmetrically distributed. Duplex Doppler US depicted a waveform of fast arterial flow with low resistance, while angiography demonstrated a complex tangle of vessels supplied by enlarged uterine arteries, in association with early venous drainage during the arterial phase, and staiss of contrast medium within abnormal vasculature. Where AVMs were combined with a pseudoaneurysm, this finding was observed. Transcatheter arterial embolization provided a complete cure, without recurrence. Color and duplex Doppler US in an appropriate modality for the detection and diagnosis of uterine AVMs and for follow-up after embolization. Transcatheter arterial embolization is a safe and effective method of treating this disease.

  12. The role of the pediatrician in preventing congenital malformations.

    Science.gov (United States)

    Brent, Robert L

    2011-10-01

    • The development of new knowledge and new diagnostic techniques and technology as well as the sophistication of epidemiology studies and maturation of the fields of clinical genetics and clinical teratology have revolutionized the field of reproductive and developmental biology.• Advances have enabled physicians and scientists to determine the causes of developmental abnormalities and, therefore, discover methods of prevention. The process of evaluation is based on the knowledge base developed over the past 50 years.• Although genetic abnormalities are responsible for a significant proportion of reproductive and developmental deleterious effects, a larger proportion of these effects are due to unknown causes.• Environmental causes are less frequent, although many of the environmental effects as well as many of the genetic effects can be prevented through genetic counseling and preconceptual planning. Effective treatment and amelioration of developmental effects also have improved.• More than 50 environmental drugs, chemicals, maternal diseases, infections, nutritional abnormalities, and physical agents can affect reproduction deleteriously and result in CMs.Theoretically, all these causes are preventable.• Throughout the developing world, the addition of folic acid and iodine could prevent tens of thousands of birth defects and developmental abnormalities.• In the United States, the opportunity for prevention can be introduced at the population level and by addressing individual patients’ clinical problems.• If a mother of a malformed infant had some type of exposure during pregnancy, such as a diagnostic radiologic examination or medication, the consulting physician should not support or suggest the possibility of a causal relationship before performing a complete evaluation. If a pregnant woman who has not yet delivered had some type of exposure during pregnancy, the consulting physician should not support or suggest the possibility that the

  13. Aberrant lymphatic endothelial progenitors in lymphatic malformation development.

    Directory of Open Access Journals (Sweden)

    June K Wu

    Full Text Available Lymphatic malformations (LMs are vascular anomalies thought to arise from dysregulated lymphangiogenesis. These lesions impose a significant burden of disease on affected individuals. LM pathobiology is poorly understood, hindering the development of effective treatments. In the present studies, immunostaining of LM tissues revealed that endothelial cells lining aberrant lymphatic vessels and cells in the surrounding stroma expressed the stem cell marker, CD133, and the lymphatic endothelial protein, podoplanin. Isolated patient-derived CD133+ LM cells expressed stem cell genes (NANOG, Oct4, circulating endothelial cell precursor proteins (CD90, CD146, c-Kit, VEGFR-2, and lymphatic endothelial proteins (podoplanin, VEGFR-3. Consistent with a progenitor cell identity, CD133+ LM cells were multipotent and could be differentiated into fat, bone, smooth muscle, and lymphatic endothelial cells in vitro. CD133+ cells were compared to CD133- cells isolated from LM fluids. CD133- LM cells had lower expression of stem cell genes, but expressed circulating endothelial precursor proteins and high levels of lymphatic endothelial proteins, VE-cadherin, CD31, podoplanin, VEGFR-3 and Prox1. CD133- LM cells were not multipotent, consistent with a differentiated lymphatic endothelial cell phenotype. In a mouse xenograft model, CD133+ LM cells differentiated into lymphatic endothelial cells that formed irregularly dilated lymphatic channels, phenocopying human LMs. In vivo, CD133+ LM cells acquired expression of differentiated lymphatic endothelial cell proteins, podoplanin, LYVE1, Prox1, and VEGFR-3, comparable to expression found in LM patient tissues. Taken together, these data identify a novel LM progenitor cell population that differentiates to form the abnormal lymphatic structures characteristic of these lesions, recapitulating the human LM phenotype. This LM progenitor cell population may contribute to the clinically refractory behavior of LMs.

  14. Outcome of cerebral arteriovenous malformations after linear accelerator reirradiation

    Directory of Open Access Journals (Sweden)

    Paulo L Moraes

    2015-01-01

    Full Text Available Background: The aim of this study was to evaluate the clinical outcome of patients undergoing single-dose reirradiation using the Linear Accelerator (LINAC for brain arteriovenous malformations (AVM. Methods: A retrospective study of 37 patients with brain AVM undergoing LINAC reirradiation between April 2003 and November 2011 was carried out. Patient characteristics, for example, gender, age, use of medications, and comorbidities; disease characteristics, for example, Spetzler-Martin grading system, location, volume, modified Pollock-Flickinger score; and treatment characteristics, for example, embolization, prescription dose, radiation dose-volume curves, and conformity index were analyzed. During the follow-up period, imaging studies were performed to evaluate changes after treatment and AVM cure. Complications, such as edema, rupture of the blood-brain barrier, and radionecrosis were classified as symptomatic and asymptomatic. Results: Twenty-seven patients underwent angiogram after reirradiation and the percentage of angiographic occlusion was 55.5%. In three patients without obliteration, AVM shrinkage made it possible to perform surgical resection with a 2/3 cure rate. A reduction in AVM nidus volume greater than 50% after the first procedure was shown to be the most important predictor of obliteration. Another factor associated with AVM cure was a prescription dose higher than 15.5 Gy in the first radiosurgery. Two patients had permanent neurologic deficits. Factors correlated with complications were the prescription dose and maximum dose in the first procedure. Conclusion: This study suggests that single-dose reirradiation is safe and feasible in partially occluded AVM. Reirradiation may not benefit candidates whose prescribed dose was lower than 15.5 Gy in the first procedure and initial AVM nidus volume did not decrease by more than 50% before reirradiation.

  15. Clinical and neuroradiological features of syringomyelia associated with Chiari malformation

    Energy Technology Data Exchange (ETDEWEB)

    Isu, Toyohiko; Iwasaki, Yoshinobu; Akino, Minoru; Abe, Hiroshi; Tashiro, Kunio; Sudo, Kazumasa; Miyasaka, Kazuo (Hokkaido Univ., Sapporo (Japan). School of Medicine); Saito, Hisatoshi

    1990-01-01

    The clinical presentation and radiological features were analyzed in 30 cases of syringomyelia associated with Chiari malformation. None of the patients had spinal dysraphism. The age on admission ranged from 6 to 59 years with a mean of 27 years. Syringomyelia was diagnosed by CT myelography and or MRI from 1982 to 1988. The initial symptoms were skeletal abnormality (43%) such as scolisis (12 cases) or pescavus (one case), unilateral pain or numbness (40%) and unilateral motor weakness (17%). Frequently seen signs on admission were sensory deficit (100%), scoliosis (57%), muscle weakness (57%), muscle atrophy (37%) and lower cranial nerve palsy (40%). The neurological findings were asymmetrical in all patients. The characteristic neurological findings in the cases presenting under 20 years of age were unilateral sensory and motor deficits (61%) with decreased or absent deep tendon reflex on the same side. The localization of the syrinx in axial section varied according to the level even in the same case. In 15 cases with unilateral sensory disturbance or unilateral sensory and motor deficit, the syrinx was located in the region corresponding to the posterolateral portion on the same side as that of sensory disturbance in the cervical or thoracic level. On the other hand, in 15 cases with bilateral sensory and motor deficit, the syrinx was located in the central portion and extended into the posterolateral portion of the more affected side. The authors think that the syrinx which originates from the unilateral posterolateral portion, extends to involve the gray matter around the central canal and the posterolateral portion of the other side with progression of the syrinx to cause bilateral disturbance. As a result, unilateral neurological symptoms also become bilateral with progression of the syrinx. (author).

  16. Large vascular malformation in a child presenting with vascular steal phenomenon managed with pial synangiosis.

    Science.gov (United States)

    Ellis, Michael J; Armstrong, Derek; Dirks, Peter B

    2011-01-01

    The management of large and giant arteriovenous malformations (AVMs) in patients presenting with nonhemorrhagic neurological deficits secondary to vascular steal phenomenon is challenging and controversial. In many cases, large AVMs cannot be completely excised or cured, leaving patients with residual or partially treated AVMs, the natural history of which is unknown. Additionally, large, diffuse vascular malformations with multiple, small feeders, slow flow, or so-called cerebral proliferative angiopathy represent a related but distinct clinical and angiographic entity that may require a different therapeutic approach than traditional brain AVMs. The current management of children with other conditions of chronic cerebral hypoperfusion, such as moyamoya disease, involves consideration of surgical revascularization to enhance blood flow to the compromised hemisphere. Here, the authors present the case of a young child with a large thalamic vascular malformation who presented with clinical and radiological features of vascular steal and ischemia. In an effort to augment flow to the hypoperfused brain and protect against future ischemia, the authors treated the child with unilateral pial synangiosis. At 12 months, postoperative angiography demonstrated robust neovascularization, and the child has not sustained any further ischemic events. The authors discuss concept of vascular malformation-related hypoperfusion and the utility of indirect revascularization for inoperable vascular malformations presenting with ischemic symptoms.

  17. MRI findings and sleep apnea in children with Chiari I malformation.

    Science.gov (United States)

    Khatwa, Umakanth; Ramgopal, Sriram; Mylavarapu, Alexander; Prabhu, Sanjay P; Smith, Edward; Proctor, Mark; Scott, Michael; Pai, Vidya; Zarowski, Marcin; Kothare, Sanjeev V

    2013-04-01

    Chiari I malformation is characterized by downward herniation of the cerebellar tonsils through the foramen magnum. Scant data are available on the clinical course, relationship to the extent of herniation on magnetic resonance imaging in Chiari I malformation and the presence of sleep-disordered breathing on polysomnography. Retrospective analysis was performed looking at polysomnographic findings of children diagnosed with Chiari I malformation. Details on how Chiari I malformation was diagnosed, brainstem magnetic resonance imaging findings, and indications for obtaining the polysomnogram in these patients were reviewed. We also reviewed available data on children who had decompression surgery followed by postoperative polysomnography findings. Twenty-two children were identified in our study (11 males, median age 10 years, range 1 to 18). Three had central sleep apnea, five had obstructive sleep apnea, and one had both obstructive and central sleep apnea. Children with sleep-disordered breathing had excessive crowding of the brainstem structures at the foramen magnum and were more likely to have a greater length of herniation compared with those children without sleep-disordered breathing (P = 0.046). Patients with central sleep apneas received surgical decompression, and their conditions were significantly improved on follow-up polysomnography. These data suggest that imaging parameters may correlate with the presence of sleep-disordered breathing in children with Chiari I malformation.

  18. Radio-opaque ethylcellulose-ethanol is a safe and efficient sclerosing agent for venous malformations

    Energy Technology Data Exchange (ETDEWEB)

    Dompmartin, Anne; Barrellier, Marie-Therese [Universite de Caen Basse Normandie, CHU Caen, Department of Dermatology, Caen (France); Blaizot, Xavier; Chene, Yannick; Gaillard, Cathy [Universite de Caen Basse Normandie, CHU Caen, Clinical Research and Biostatistical Unit, Caen (France); Theron, Jacques [Universite de Caen Basse Normandie, CHU Caen, Neuroradiology, Caen (France); Hammer, Frank [Universite Catholique de Louvain, Cliniques Universitaires St Luc, Department of Vascular and Interventional Radiology, Center for Vascular Anomalies, Brussels (Belgium); Labbe, Daniel [Universite de Caen Basse Normandie, CHU Caen, Plastic Surgery, Caen (France); Leroyer, Robert; Chedru, Valerie; Ollivier, Catherine [Universite de Caen Basse Normandie, CHU Caen, Pharmacy Department, Caen (France); Vikkula, Miikka [Universite catholique de Louvain, de Duve Institute, Laboratory of Human Molecular Genetics, Brussels (Belgium); Boon, Laurence M. [Universite Catholique de Louvain, Cliniques Universitaires St Luc, Division of Plastic Surgery, Center for Vascular Anomalies, Brussels (Belgium); Universite catholique de Louvain, de Duve Institute, Laboratory of Human Molecular Genetics, Brussels (Belgium)

    2011-12-15

    To evaluate the efficacy and safety of gelified ethanol, a newly developed sclerosing agent for slow-flow vascular malformations. Seventy-nine sclerotherapy procedures were performed on 44 patients with 37 venous malformations, 2 glomuvenous malformations, 2 lymphatic malformations, 2 lymphatico-venous malformations, and 1 Klippel-Trenaunay syndrome. The median injected volume was 1.00 mL/site of injection. Effects of sclerotherapy on pain, functional and cosmetic disturbance were statistically evaluated with a final result score. Local and systemic complications were recorded. The mean Visual Analogue Scores were 5.20 {+-} 2.81 before and 1.52 {+-} 1.25 after treatment (p < 0.001). Functional and aesthetic improvement was achieved in 31/35 patients (89%) and in 33/41 (80%), respectively. Minor local side effects included necrosis with or without issue of ethylcellulose, palpable residue, and hematoma. No systemic side-effects occurred. Per mL used, radio-opaque gelified ethanol is at least as effective as absolute ethanol. No systemic complication was observed, as only a low dose of ethanol was injected. Indications for sclerotherapy can be widened to areas with higher risk for local side effects (hands and periocular region), as ethanol is trapped in the lesion. Careful injection procedure is though necessary, because only a limited amount of ethylcellulose can be used per puncture. (orig.)

  19. Smell and taste in patients with vascular malformation of the extracranial head and neck region.

    Science.gov (United States)

    Steinbach, Silke; Fasunla, Ayotunde J; Lahme, Carolin M E; Schäfers, Sophia P; Hundt, Walter; Wolf, Petra; Mandic, Robert; Werner, Jochen A; Eivazi, Behfar

    2014-01-01

    Olfactory and gustatory functions have not been investigated in patients with vascular malformation of the extracranial head and neck region with validated smell and taste tests. Although olfactory and gustatory deficiencies are often not outwardly apparent, they substantially affect daily life. Smell and taste tests using sniffin sticks and taste strips were administered in 40 patients. For all age groups and both sexes, odor threshold (THR) values were, on average, lower in patients than in healthy individuals; whereas, values of odor identification and discrimination were not significantly lower. Regarding odor THR, 33 (82.5%) patients were hyposmic. Taste values (sweet, sour, salty, bitter, and total taste) were, on average, lower in patients than in healthy individuals; 21 (52.5%) patients were hypogeusic. Disease duration did not correlate with smell and taste test values. Patients with and without tongue involvement had decreased odor threshold and taste values. No significant differences were identified when taste values on the left and right sides of the tongue were compared in patients without tongue involvement and with unilateral and bilateral tongue involvement. Patients with venous malformations had lower smell test values, and patients with lymphatic malformations had lower taste test values than patients with other malformations. Patients exhibit significantly reduced olfactory and gustatory function even when the nose and/or tongue are not malformed. Patients should be tested with validated smell and taste tests to adequately inform and advise them about overcoming smell and taste deficits.

  20. Fatal rupture of pulmonary arteriovenous malformation in hereditary haemorrhagic telangiectasis and severe PAH

    Directory of Open Access Journals (Sweden)

    D. Montani

    2009-03-01

    Full Text Available 29-yr-old patient with hereditary haemorrhagic telangiectasia was referred to the present authors’ centre with progressive exertional dyspnoea. Pulmonary arterial hypertension (PAH was suspected on Doppler echocardiography and confirmed by right heart catheterisation demonstrating severe PAH. Genetic analysis found an activin receptor-like kinase-1 gene missense mutation. Chest radiography and computed tomodensitometry of the chest revealed a pulmonary arteriovenous malformation with a 5-mm diameter feeding artery in the right lower lobe. Embolisation of the arteriovenous malformation was discussed, but was considered a very high-risk procedure that could aggravate PAH and was therefore not performed. Haemodynamics were improved by dual endothelin receptor antagonist and inhaled iloprost but the patient subsequently died suddenly of a rupture of the arteriovenous malformation into the pleural cavity. Severe PAH is generally considered a contraindication to performing pulmonary arteriovenous malformation embolisation because of the risk of worsening of PAH. However, given the significant risk of rupture, paradoxical embolism and haemoptysis, and the lack of data regarding the evolution of pulmonary pressure after embolisation in PAH, pulmonary arteriovenous malformation embolisation should not be absolutely contraindicated and might be considered in patients with stable PAH.

  1. Development and evaluation of a computer-based educational program for adults with congenitally malformed hearts.

    Science.gov (United States)

    Rönning, Helén; Nielsen, Niels Erik; Strömberg, Anna; Thilen, Ulf; Swahn, Eva

    2013-02-01

    There is a lack of educational material for adults with congenitally malformed hearts. Computer-based education has shown to have significant effects on knowledge and management of chronic diseases. The aim of this study was to develop and evaluate a computer-based educational program for adults with congenitally malformed hearts. The program was developed by a multidisciplinary team. Data were collected by questionnaires, observations, and structured interviews. The final product was a computer-based educational program consisting of ten separate modules, one for each particular malformation. The program was experienced as stimulating and easy to use. The appearance and quantity of the text was graded as good and the content as relevant and very useful. This is the first computer-based program developed for adults with congenitally malformed hearts. The evaluation found the program to have great potential as an important tool for improving care. Further studies are needed to test the outcomes of the program on knowledge, perceived control over the heart condition, anxiety/depression. and health-related quality of life. The program may be used as a complement to verbal information and every adult with a congenitally malformed hearts can receive individualized information from a personal CD.

  2. Fetal diffusion tensor quantification of brainstem pathology in Chiari II malformation

    Energy Technology Data Exchange (ETDEWEB)

    Woitek, Ramona; Prayer, Daniela; Weber, Michael; Schoepf, Veronika; Furtner, Julia; Asenbaum, Ulrika; Kasprian, Gregor [Medical University of Vienna, Department of Biomedical Imaging and Image-guided Therapy, Vienna (Austria); Amann, Gabriele [Medical University of Vienna, Department of Clinical Pathology, Vienna (Austria); Seidl, Rainer [Medical University of Vienna, Department of Paediatrics and Adolescent Medicine, Vienna (Austria); Bettelheim, Dieter [Medical University of Vienna, Department of Obstetrics and Gynecology, Vienna (Austria); Brugger, Peter C. [Medical University of Vienna, Center for Anatomy and Cell Biology, Vienna (Austria)

    2016-05-15

    This prenatal MRI study evaluated the potential of diffusion tensor imaging (DTI) metrics to identify changes in the midbrain of fetuses with Chiari II malformations compared to fetuses with mild ventriculomegaly, hydrocephalus and normal CNS development. Fractional anisotropy (FA) and apparent diffusion coefficient (ADC) were calculated from a region of interest (ROI) in the midbrain of 46 fetuses with normal CNS, 15 with Chiari II malformations, eight with hydrocephalus and 12 with mild ventriculomegaly. Fetuses with different diagnoses were compared group-wise after age-matching. Axial T2W-FSE sequences and single-shot echo planar DTI sequences (16 non-collinear diffusion gradient-encoding directions, b-values of 0 and 700 s/mm{sup 2}, 1.5 Tesla) were evaluated retrospectively. In Chiari II malformations, FA was significantly higher than in age-matched fetuses with a normal CNS (p =.003), while ADC was not significantly different. No differences in DTI metrics between normal controls and fetuses with hydrocephalus or vetriculomegaly were detected. DTI can detect and quantify parenchymal alterations of the fetal midbrain in Chiari II malformations. Therefore, in cases of enlarged fetal ventricles, FA of the fetal midbrain may contribute to the differentiation between Chiari II malformation and other entities. (orig.)

  3. Detection of congenital uterine malformation by using transvaginal three-dimensional ultrasound.

    Science.gov (United States)

    Yu, Li-Li; Zhang, Xuan; Zhang, Ting; Chen, Han-Rong; Wang, Ze-Hua

    2014-10-01

    This study assessed the clinical application of transvaginal three-dimensional ultrasound (3D TVUS) in the diagnosis of congenital uterine malformation. A retrospective study was performed on 62 patients with congenital uterine malformation confirmed hysteroscopically and/or laparoscopically. The patients were subjected to transvaginal two-dimensional ultrasound (2D TVUS) and 3D TVUS. The accuracy rate was compared between the two methods. The accuracy rate of 3D TVUS was (98.38%, 61/62), higher than that of 2D TVUS (80.65%, 50/62). 3D TVUS coronal plane imaging could demonstrate the internal shape of the endometrial cavity and the external contour of the uterine fundus. It allowed accurate measurement on the coronary plane, and could three-dimensionally show the image of cervical tube, thereby providing information for the diagnosis of some complex uterine malformation. 3D TVUS imaging can obtain comprehensive information of the uterus malformation, and it is superior to 2D TVUS for the diagnosis of congenital uterine malformations, especially complex uterine anomaly.

  4. Is hysterosalpingography able to diagnose all uterine malformations correctly? A retrospective study

    Energy Technology Data Exchange (ETDEWEB)

    Braun, Petra; Grau, Francisco Vercher; Pons, Raul Mut; Enguix, Daniel Perez

    2005-02-01

    Background: Muellerian duct anomalies are an uncommon but often a treatable cause of infertility. Material and methods: From January 2002 until November 2003, a total of 705 hysterosalpingographies were realised of which 658 were analysed retrospectively in order to determine the importance of uterine malformations in infertile and sterile patients. In ten cases, the results of hysterosalpingography were compared with hysteroscopy and laparoscopy. Results: The frequency of uterine malformations in infertile and sterile women was 10%. In this population, arcuate uterus (57.6%) was the most common malformation, followed by subseptate uterus (18.2%), uterus bicornis unicollis (10.6%), uterus bicornis bicollis (3.0%), septate uterus (6.1%), unicornuate uterus (3.0%) and unicornuate uterus with double vagina (1.5%). Discussion: Our bibliographic research confirmed that arcuate uterus is the most frequent congenital malformation, but in gestations it does not show a significantly reduced live birth rate. Nevertheless, the septate uterus presents an important decrease of live birth rate that can be improved significantly by doing hysteroscopic metroplasty. As this is a completely different surgical intervention compared to bicornuate uterus, a correct diagnosis is very important. Differentiation of these two malformations is quite difficult by hysterosalpingographic exploration, wherefore an additional exploration by means of endovaginal or three-dimensional ultrasound is recommended.

  5. Foramen magnum decompression for Chiari I malformation: a procedure not to be underestimated.

    Science.gov (United States)

    Duddy, John Charles; Allcutt, David; Crimmins, Darach; O'Brien, David; O'Brien, Donncha Finbarr; Rawluk, Daniel; Sattar, Mohammed Taufiq; Young, Steven; Caird, John

    2014-06-01

    Chiari I malformation may be treated with foramen magnum decompression (FMD). We aim to describe the symptoms with which patients initially present, and to determine the number and type of complications occurring after FMD for Chiari I malformation. Retrospective review of medical records for patients who had FMD performed for Chiari I malformation between January 2009 and December 2011. Post-operative outcomes were recorded and analysed. Patient demographic details and other relevant medical conditions were also noted. Between January 2009 and December 2011, 54 FMDs were performed for Chiari I malformation. Among them, 40(74%) patients were female and 14 patients (26%) were male. The majority of patients (42.6%) were aged 16-39 years and 24.07% of patients were children aged < 16 years. A total of 30(55.6%) patients had documented evidence of a syrinx pre-operatively. 18(33.3%) patients developed complications. Nine of these developed multiple complications while nine had a single problem. One mortality was reported. Ten (18.5%) patients developed hydrocephalus requiring shunting. Two patients developed subdural collections requiring evacuation associated with hydrocephalus. Six (11.1%) patients developed post-operative infections: two CNS infections; one wound infection; and three other infections. FMD for Chiari I malformation is a procedure which carries risk. In particular, the risk of developing post-operative hydrocephalus requiring permanent shunting is relatively high. ICP monitoring prior to FMD may be required to definitively rule out raised intracranial pressure.

  6. Study of the radioprotective effects of TMG on teratogenic malformations in irradiated mice

    Energy Technology Data Exchange (ETDEWEB)

    Gu, Yeunhwa; Hasegawa, Takeo; Suzuki, Ikukatsu; Mori, Takehiko; Yamamoto, Youichi [Suzuka Univ. of Medical Science, Mie (Japan); Kim, Hwakon

    2000-12-01

    ICR mice fetuses in the organogenesis stage were used to clarify experimentally the mechanism of the protective effect of vitamin E derivant (TMG: 2- ({alpha}-D-Glucopyranosyl) methyl-2, -5, -7, -8-Teramethylchorman-6-working woman) on the effects of radiation. The authors paid careful attention to radiation, and the radioprotective effects of TMG on the induction of malformations was examined. Radiation is an important consideration because of its widespread use in the areas of medicine, nuclear energy, and industry. Malformations induced by radiation at the organogenesis stage, skeletal malformations, and the effects at the cellular level of embryos were examined in this research. Further, the mechanism of the protection effect of TMG against radiation-induced malformations was analyzed and observed experimentally. Thus, this study was done to provide fundamental data on the radioprotective agent TMG. It was clear that TMG exerted radioprotective effects against embryonic death and the rate of teratogenesis when administered before exposure. Such effects were also exerted against skeletal malformations and fetal body weight. In summary, radioprotective effects were observed at the whole-body level as well as at the cellular level. (author)

  7. Laser therapy and sclerotherapy in the treatment of oral and maxillofacial hemangioma and vascular malformations

    Science.gov (United States)

    Crişan, Bogdan; BǎciuÅ£, Mihaela; BǎciuÅ£, Grigore; Crişan, Liana; Bran, Simion; Rotar, Horatiu; Moldovan, Iuliu; Vǎcǎraş, Sergiu; Mitre, Ileana; Barbur, Ioan; Magdaş, Andreea; Dinu, Cristian

    2016-03-01

    Hemangioma and vascular malformations in the field of oral and maxillofacial surgery is a pathology more often found in recent years in patients. The aim of this study was to evaluate the efficacy of the laser photocoagulation performed with a diode laser (Ga-Al-As) 980 nm wavelength in the treatment of vascular lesions which are located on the oral and maxillofacial areas, using color Doppler ultrasonography for evaluation of the results. We also made a comparison between laser therapy and sclerotherapy in order to establish treatment protocols and recommendations associated with this pathology. We conducted a controlled study on a group of 92 patients (38 male and 54 female patients, with an average age of 36 years) having low flow hemangioma and vascular malformations. Patients in this trial received one of the methods of treatment for vascular lesions such as hemangioma and vascular malformations: laser therapy or sclerotherapy. After laser therapy we have achieved a reduction in size of hemangioma and vascular malformations treated with such a procedure, and the aesthetic results were favorable. No reperfusion or recanalization of laser treated vascular lesions was observed after an average follow-up of 6 to 12 months. In case of sclerotherapy a reduction in the size of vascular lesions was also obtained. The 980 nm diode laser has been proved to be an effective tool in the treatment of hemangioma and vascular malformations in oral and maxillofacial area. Laser therapy in the treatment of vascular lesions was more effective than the sclerotherapy procedure.

  8. Endoscopic Ho laser interstitial therapy for pharyngolaryngeal venous malformations in adults.

    Science.gov (United States)

    Xiuwen, Jiang; Jianguo, Tang

    2015-04-01

    Many methods have been used to treat venous malformations, including sclerotherapy, laser therapy, and surgery. Nowadays, endoscopic laser surgery has become a popular therapeutic modality for most of pharyngolaryngeal venous malformations. There are various kinds of lasers that have been applied, but Holmium:YAG laser (Ho laser) has not been reported yet. Ho laser is produced by a kind of iraser which is made of yttrium aluminum garnet mixed with holmium, chromium and thulium. Aim of the current work is to evaluate the efficacy and safety of Ho laser interstitial therapy in pharyngolaryngeal venous malformations in adults. The clinical data of 42 patients with pharyngolaryngeal venous malformation treated with endoscopic Ho laser interstitial therapy over a 12-year period were retrospectively reviewed and analyzed. The wave length of Ho laser was 2.1 µm and the diameter of optical fiber was 550 µm. The pulse energy was 0.5 J and the time of duration was 600 µs. The highest output power was 100 W. Outcomes were graded as cure (complete resolution), considerable reduction (>60-80 % reduction), and no obvious change (laser interstitial therapy is an effective and safe treatment modality for pharyngolaryngeal venous malformations in adults.

  9. Congenital malformations among 911 newborns conceived after infertility treatment with letrozole or clomiphene citrate.

    Science.gov (United States)

    Tulandi, Togas; Martin, James; Al-Fadhli, Raedah; Kabli, Nadia; Forman, Rachel; Hitkari, Jason; Librach, Clifford; Greenblatt, Ellen; Casper, Robert F

    2006-06-01

    To evaluate the incidence of congenital malformations among offspring of mothers who conceived with clomiphene citrate (CC) or with letrozole treatment for infertility. Retrospective study. 5 fertility centers in Canada. 911 newborns from women who conceived following CC or letrozole treatment. Examination of medical files of both mother and newborn, and cross-checked with the parents by telephone calls. Identified major and minor congenital malformations, birth weight, age of the mother, and type of treatment that led to the conception. Overall, congenital malformations and chromosomal abnormalities were found in 14 of 514 newborns in the letrozole group (2.4%) and in 19 of 397 newborns in the CC group (4.8%). The major malformation rate in the letrozole group was 1.2% (6/514) and in the CC group was 3.0% (12/397). One newborn in the letrozole group was found to have a ventricular septal defect (0.2%) compared to 4 newborns in the CC group (1.0%). In addition, the rate of all congenital cardiac anomalies was significantly higher (P: 0.02) in the CC group (1.8%) compared to the letrozole group (0.2%). There was no difference in the overall rates of major and minor congenital malformations among newborns from mothers who conceived after letrozole or CC treatments. However, it appears that congenital cardiac anomaly is less frequent in the letrozole group. The concern that letrozole use for ovulation induction could be teratogenic is unfounded based on our data.

  10. Auditory maturity and hearing performance in inner ear malformations: a histological and electrical stimulation approach.

    Science.gov (United States)

    Sainz, Manuel; Garcia-Valdecasas, Juan; Fernandez, Elena; Pascual, Maria Teresa; Roda, Olga

    2012-06-01

    The objective of this study was to assess the auditory performance of the neural structures in response to controlled electrical stimulation period. A prospective cohort study focused on the intracochlear electrical stimulation parameters and hearing performance of patients suffering different cochlear malformations who were treated by cochlear implants constituted the study design. The study sample constituted 16 patients, suffering profound prelingual hearing impairment, diagnosed on the basis of radiological criteria as having an inner ear malformation, and who underwent cochlear implantation and were followed for 24 months. Patients with common cavities, characterized by fewer nerve structures involved, less epithelial penetration, and deficient cochlear tonotopy distribution showed have higher thresholds and electrical charges than patients with cochlear hypoplasia, who in turn have higher thresholds than patients with minor malformations (p malformation and was also poor in patients with cochlear hypoplasia, who were unable to discriminate more than 50% of the words and relied on visual cues as a necessary aid to communication. Better results were reached by minor malformed inner ears. To conclude, the number of nerve structures involved, epithelial penetration and deficient cochlear tonotopy are responsible of inner ear functionality.

  11. Cochlear implantation in patients with inner ear bone malformations with posterior labyrinth involvement: an exploratory study.

    Science.gov (United States)

    Palomeque Vera, Juan Miguel; Platero Sánchez-Escribano, María; Gómez Hervás, Javier; Fernández Prada, María; González Ramírez, Amanda Rocío; Sainz Quevedo, Manuel

    2016-04-01

    Inner ear bone malformations are one cause of profound sensorineural hearing loss. This investigation focused on those affecting the posterior labyrinth, especially enlarged vestibular aqueduct syndrome, which is associated with fluctuating and progressive hearing loss. The objectives of this study were to analyze the behavior of the electrical stimulation, auditory functionality and linguistic development in patients with inner ear malformations involving the posterior labyrinth. The study included ten patients undergoing cochlear implantation (cases: five with enlarged vestibular aqueduct, two with vestibular aqueduct stenosis/aplasia, and three with semicircular canal disorders). Post-implantation, data were gathered on the electrical stimulation threshold and maximum comfort levels and on the number of functioning electrodes. Evaluation of Auditory Responses to Speech (EARS) subtests were used to assess auditory functionality and language acquisition at 6, 12, and 24 months post-implantation. Results were compared with findings in a control group of 28 cochlear implantation patients without these malformations. No significant differences were found between case and control groups in electrical stimulation parameters; auditory functionality subtest scores were lower in cases than controls, although the difference was only statistically significant for some subtests. In conclusion, cochlear implantation patients with posterior labyrinth bone malformations and profound hearing loss, including those with enlarged vestibular aqueduct syndrome, showed no significant difference in electrical stimulation threshold with controls. Although some auditory functionality test results were lower in cases than in controls, cochlear implantation appears to be beneficial for all patients with these malformations.

  12. Sphincter saving anorectoplasty (SSARP for the reconstruction of Anorectal malformations

    Directory of Open Access Journals (Sweden)

    Paudel Bishnu

    2007-09-01

    Full Text Available Abstract Background This report describes a new technique of sphincter saving anorectoplasty (SSARP for the repair of anorectal malformations (ARM. Methods Twenty six males with high ARM were treated with SSARP. Preoperative localization of the center of the muscle complex is facilitated using real time sonography and computed tomography. A soft guide wire is inserted under image control which serves as the route for final pull through of bowel. The operative technique consists of a subcoccygeal approach to dissect the blind rectal pouch. The separation of the rectum from the fistulous communication followed by pull through of the bowel is performed through the same incision. The skin or the levators in the midline posteriorly are not divided. Postoperative anorectal function as assessed by clinical Wingspread scoring was judged as excellent, good, fair and poor. Older patients were examined for sensations of touch, pain, heat and cold in the circumanal skin and the perineum. Electromyography (EMG was done to assess preoperative and postoperative integrity of external anal sphincter (EAS. Results The patients were separated in 2 groups. The first group, Group I (n = 10, were newborns in whom SSARP was performed as a primary procedure. The second group, Group II (n = 16, were children who underwent an initial colostomy followed by delayed SSARP. There were no operative complications. The follow up ranged from 4 months to 18 months. Group I patients have symmetric anal contraction to stimulation and strong squeeze on digital rectal examination with an average number of bowel movements per day was 3–5. In group II the rate of excellent and good scores was 81% (13/16. All patients have an appropriate size anus and regular bowel actions. There has been no rectal prolapse, or anal stricture. EAS activity and perineal proprioception were preserved postoperatively. Follow up computed tomogram showed central placement the pull through bowel in between

  13. Radiological and clinical features of vein of Galen malformations.

    Science.gov (United States)

    Chow, Maggie L; Cooke, Daniel L; Fullerton, Heather J; Amans, Matthew R; Narvid, Jared; Dowd, Christopher F; Higashida, Randall T; Halbach, Van V; Hetts, Steven W

    2015-06-01

    Vein of Galen malformations (VOGMs) are rare and complex congenital arteriovenous fistulas. The clinical and radiological features of VOGMs and their relation to clinical outcomes are not fully characterized. To examine the clinical and radiological features of VOGMs and the predictors of outcome in patients. We retrospectively reviewed the available imaging and medical records of all patients with VOGMs treated at the University of California, San Francisco between 1986 and 2013. Radiological and clinical features were identified. We applied the modified Rankin Scale to determine functional outcome by chart review. Predictors of outcome were assessed by χ(2) analyses. Forty-one cases were confirmed as VOGM. Most patients (78%) had been diagnosed with VOGM in the first year of life. Age at treatment was bimodally distributed, with predominantly urgent embolization at <10 days of age and elective embolization after 1 year of age. Patients commonly presented with hydrocephalus (65.9%) and congestive heart failure (61.0%). Mixed-type (31.7%) VOGM was more common in our cohort than purely mural (29.3%) or choroidal (26.8%) types. The most common feeding arteries were the choroidal and posterior cerebral arteries. Transarterial embolization with coils was the most common technique used to treat VOGMs at our institution. Functional outcome was normal or only mildly disabled in 50% of the cases at last follow-up (median=3 years, range=0-23 years). Younger age at first diagnosis, congestive heart failure, and seizures were predictive of adverse clinical outcome. The survival rate in our sample was 78.0% and complete thrombosis of the VOGM was achieved in 62.5% of patients. VOGMs continue to be challenging to treat and manage. Nonetheless, endovascular approaches to treatment are continuing to be refined and improved, with increasing success. The neurodevelopmental outcomes of affected children whose VOGMs are treated may be good in many cases. Published by the BMJ

  14. Increased expression of osteopontin in brain arteriovenous malformations

    Institute of Scientific and Technical Information of China (English)

    XU Hong-zhi; QIN Zhi-yong; GU Yu-xiang; ZHOU Ping; XU Feng; CHEN Xian-cheng

    2012-01-01

    Background The precise mechanisms responsible for the development and growth of intracranial arteriovenous malformations (AVMs) remain unclear.Osteopontin (OPN) is a phosphorylated glycoprotein with diverse functions.This study aimed to analyze the expression of OPN in human brain AVMs.Methods The AVM nidus was surgically obtained from patients with AVM,whereas control brain artery specimens were surgically obtained from patients with epilepsy.Reverse transcription-polymerase chain reaction (RT-PCR) was used to examine the expression of OPN mRNA in biopsy specimens.OPN protein expression was localized by immunohistochemistry.The statistical differences between different groups were assessed by two-way analysis of variance (ANOVA).Results We analyzed 36 brain AVM specimens and 8 control brain artery specimens.Eleven patients with brain AVM received embolization treatment,and five underwent gamma knife radiotherapy before resection.Nineteen patients with brain AVM had a history of hemorrhage from AVMs.The expression of OPN mRNA was significantly higher in AVMs than that in the control specimens (25.76±2.71 vs.21.46±2.01,P <0.01).There was no statistically significant difference in the extent of OPN mRNA expression between the AVM group with and that without history of hemorrhage (26.13±2.45 vs.25.34±2.99) or gamma knife radiotherapy (24.39±2.10 vs.24.53±1.85).However,the difference between the AVM group with and that without embolization treatment history was statistically significant (24.39±2.10 vs.28.80±1.13,P <0.01).In the group with gamma knife radiotherapy history,OPN expression was found in arteries with early-stage radio-effect.Conclusions OPN may contribute to the vascular instability of brain AVMs.It may play an important role in the pathophysiological process related to embolization treatment.

  15. Risk of malformations and other outcomes in children exposed to fluconazole in utero

    DEFF Research Database (Denmark)

    Sørensen, Henrik Toft; Nielsen, Gunnar Lauge; Olesen, Charlotte;

    1999-01-01

    Aim Fluconazole is an active drug systematically used in the oral treatment of vaginal candidiasis and other fungal diseases. We examined the risk of malformations and other birth outcomes following pregnancy related exposures. Method From 1 January 1991 to 31 December 1996 we identified 165 women...... who had taken fluconazole just before or during pregnancy in the Pregnancy Outcome Section of the North Jutland Pharmacoepidemiological Prescription Database, Denmark, which is linked to the Danish Medical Birth Registry. We compared their birth outcomes (malformation, low birth weight and preterm...... delivery) with the outcomes among 13 327 women who did not receive any prescriptions during their pregnancies. Results The prevalence of malformation was 3.3% (four cases) among the 121 women, who had used fluconazole in the first trimester, and 5.2% (697 cases) in offspring to controls (odds ratio: 0...

  16. Intradiploic occipital pseudomeningocele in a patient with remote history of surgical treatment of Chiari malformation.

    Science.gov (United States)

    Mahaney, Kelly B; Menezes, Arnold H

    2014-11-01

    An intradiploic CSF pseudocyst is a rare entity that has been described in association with trauma, as a sequela of untreated hydrocephalus, or occasionally as a congenital finding in older adults. The authors present the case of a woman with a remote history of a posterior fossa intradural procedure, in which she underwent Chiari malformation decompression, Silastic substitute-assisted duraplasty, and occipitocervical fusion; she presented 19 years later with recurrent symptoms of Chiari malformation. She was found to have an occipital intradiploic pseudomeningocele, arising within her dorsal occipitocervical fusion mass and resulting in dorsal hindbrain compression. She underwent a posterior fossa decompression and revision of her failed duraplasty, and she had a good recovery. This case demonstrates intradiploic CSF pseudomeningocele as a rare potential delayed complication of an intradural procedure for the treatment of Chiari malformation with occipitocervical fusion.

  17. Congenital Vertebral Malformations In French Bulldogs: X-Ray Vs Computed Tomography

    Directory of Open Access Journals (Sweden)

    Lucia Madalina CORLAT

    2017-05-01

    Full Text Available Congenital vertebral malformations of the thoracolumbar area can have an important impact in the clinical evolution of French Bulldogs due to the instability it creates at the spinal level. The aim of this study is to show the differences between x-ray and CT scans in vertebral malformations of the French Bulldog. CT scans can offer a higher degree of certainty in the diagnosis of congenital vertebral malformations of the dogs. The VR model can offer a more thorough evaluation of the existing modifications of the vertebral body, allowing the examiner to circumvent the superposition effect than can be observed in the x-ray views and offering the chance to evaluate whether there is scoliosis or kyphosis present.

  18. Pediatric primary lung adenocarcinoma in the absence of congenital pulmonary airway malformation.

    Science.gov (United States)

    Guddati, Achuta K; Marak, Creticus P

    2012-12-01

    Primary lung adenocarcinoma is a rare entity in the pediatric population, especially in the absence of an underlying congenital pulmonary airway malformation. Primary lung malignancies in pediatric patients are rare and constitute 0.2% of all childhood malignancies. EGFR mutations and congenital airway malformations have been identified as etiological factors in the development of precancerous lesions that eventually progress to malignancy. The availability of genome sequencing and advanced imaging has made it possible to associate primary lung adenocarcinoma with mutations and structural malformations. Early diagnosis with the help of these techniques may result in surgical resection during early stages of the disease and possibly provide definitive treatment. Development of lung adenocarcinoma in pediatric patients in the absence of the above factors has been recorded anecdotally. It is possible that these patients may harbor a yet unknown set of mutations and recording this cases and preserving their tissues is of vital importance in the detection of these yet unknown etiologies.

  19. Lithiasis in cystic kidney disease and malformations of the urinary tract.

    Science.gov (United States)

    Gambaro, G; Fabris, A; Puliatta, D; Lupo, A

    2006-04-01

    The prevalence of renal stones in renal cystic and malformative conditions exceeds the prevalence of renal stones in the general population, suggesting that the above-mentioned cystic and malformative disorders favor stone formation. Urinary stasis is generally assumed to play a major part in the pathogenesis of the nephrolithiasis associated with distorted renal anatomy due to a delayed washout of crystals and risk of urinary infections. However metabolic factors are also important in the pathogenesis of stones in these conditions. Indeed, metabolic abnormalities have been observed in the majority of stone-forming patients with conditions such as horseshoe kidney and ureteropelvic junction obstruction. Five different models of stone formation can be identified, depending on stone composition, risk of infection stones, and pathogenesis of renal cystic and malformative conditions. A proper metabolic evaluation should be conducted to diagnose specific, treatable metabolic disorders, thereby reducing the frequency of recurrent stone disease in these conditions as well.

  20. Stomach arteriovenous malformation resected by laparoscopy-assisted surgery: A case report.

    Science.gov (United States)

    Hotta, Masahiro; Yamamoto, Kazuhito; Cho, Kazumitsu; Takao, Yoshimune; Fukuoka, Takeshi; Uchida, Eiji

    2016-05-01

    Arteriovenous malformations of the stomach are an uncommon cause of upper GI bleeding. We report a case of stomach arteriovenous malformation in an 85-year-old Asian man who presented with massive hematemesis. Initial esophagogastroduodenoscopy did not detect this lesion, but contrast multi-detector CT confirmed GI bleeding. Multi-detector CT revealed a mass of blood vessels underlying the submucosa that arose from the right gastroepiploic artery. Repeat esophagogastroduodenoscopy showed that the lesion was a submucosal tumor with erosion and without active bleeding in the lower body of the stomach on the greater curvature. We performed partial gastrectomy via laparoscopy-assisted surgery. The histopathological diagnosis was arteriovenous malformation. © 2016 Japan Society for Endoscopic Surgery, Asia Endosurgery Task Force and John Wiley & Sons Australia, Ltd.

  1. Spontaneous intracranial hemorrhage in children – ruptured lobar arteriovenous malformations: report of two cases

    Directory of Open Access Journals (Sweden)

    Tascu A.

    2015-03-01

    Full Text Available Brain arteriovenous malformations (AVMs are lesions thought to be primarily congenital in origin, consisting of fistulous connections of abnormal arteries and veins, without normal intervening capillary beds and no cerebral parenchyma between vessels. In the pediatric population, AVMs represent the most common cause of spontaneous intracranial hemorrhage (ICH, with a high recurrent bleeding risk. The aim of this paper is to report 2 cases of ruptured lobar AVMs in children, presenting with spontaneous ICH. Due to the patients’ neurological status, the only imaging examination performed preoperatively was a CT scan, showing intraparenchymal hemorrhage. Thus, there was no MRI/angiographic examination to prove the existence of a brain AVM prior to the surgical interventions. Also, the cerebral angiography performed after the surgery showed, in both patients, no signs of residual vascular malformations. Therefore, the diagnosis of AVM was certified by macroscopic and microscopic pathological findings, with no brain imaging suggestive of a vascular malformation.

  2. Venolymphatic vascular malformation of the parotid gland extending into the parapharyngeal space: A rare presentation

    Science.gov (United States)

    Khatib, Yasmeen; Dande, Madhura; Patel, Richa D; Gite, Vinod

    2016-01-01

    Vascular malformations (VMs) are structural malformations of vascular development causing soft tissue abnormality with functional and esthetic impairment. They are named by their predominant vessel type as arterial, venous, lymphatic or mixed types. VMs of the parotid gland are extremely rare and constitute a distinct entity of parotid pathology that requires specific diagnostic tools and management. Till 2013, only fifty cases of VMs of the parotid have been described in the literature. We present a case of a venolymphatic malformation of the parotid gland extending into the parapharyngeal space in a 21-year-old male who presented with a swelling on the left side of the face extending into the neck. Diagnosis was suggested by ultrasonography and computed tomography scan and was confirmed by magnetic resonance imaging examination. Complete surgical excision of the lesion was done with a favorable outcome. Diagnosis was confirmed based on histopathology and immunohistochemical studies. PMID:27601828

  3. Venolymphatic vascular malformation of the parotid gland extending into the parapharyngeal space: A rare presentation

    Directory of Open Access Journals (Sweden)

    Yasmeen Khatib

    2016-01-01

    Full Text Available Vascular malformations (VMs are structural malformations of vascular development causing soft tissue abnormality with functional and esthetic impairment. They are named by their predominant vessel type as arterial, venous, lymphatic or mixed types. VMs of the parotid gland are extremely rare and constitute a distinct entity of parotid pathology that requires specific diagnostic tools and management. Till 2013, only fifty cases of VMs of the parotid have been described in the literature. We present a case of a venolymphatic malformation of the parotid gland extending into the parapharyngeal space in a 21-year-old male who presented with a swelling on the left side of the face extending into the neck. Diagnosis was suggested by ultrasonography and computed tomography scan and was confirmed by magnetic resonance imaging examination. Complete surgical excision of the lesion was done with a favorable outcome. Diagnosis was confirmed based on histopathology and immunohistochemical studies.

  4. The clinico-radiological spectrum of masseteric venous malformation: Case report.

    Science.gov (United States)

    Agarwal, Kavita; Umarji, Hemant R; Kadam, Sonali; Agrawal, Neeraj

    2016-11-01

    Due to its location, intra-masseteric venous malformation often mistaken for a parotid swelling and clinical examination alone frequently underestimates the deep extension of the lesion and rarely gives accurate pre-operative diagnosis. But once it is diagnosed, the feasibility of the treatment and the plan of approach depend on accurate delineation of the extent, size and location of the lesion. Therefore, complimentary radiographic studies are essential for its management. In this case report, typical features of venous malformation within the masseter muscle, including clinical findings (turkey wattle sign) and imaging are presented. Ultrasonography and CT scan were non-contributory in the diagnosis, while on MRI, masseteric venous malformations have a typical appearance that allowed early identification, patient education and its management.

  5. The Vanishing Twin Syndrome: Two Cases of Extreme Malformations Associated With Vanished Twins.

    Science.gov (United States)

    Shinnick, Julia K; Khoshnam, Nasim; Archer, Sydney R; Quigley, Philip C; Robinson, Haynes; Keene, Sarah; Santore, Matthew T; Hill, Sarah; Patel, Binita; Shehata, Bahig M

    2017-01-01

    Two cases of devastating fetal malformations associated with vanished monochorionic twins were identified upon review of pathology files. A 35-year-old G1P0 woman and 36-year-old G3P1 woman were both diagnosed with an intrauterine twin gestation via transvaginal ultrasound at 10 weeks. The spectrum of fetal anomalies ranged from omphalocele, bilateral upper extremity, and unilateral lower extremity hypoplasia, to craniofacial malformation with diaphragmatic hernia. On histopathologic examination, the placentas demonstrated vascular anastomoses between the surviving co-twin and the "vanished" fetal sac. We propose anastomotic placental vasculature as a contributing factor to the observed fetal malformations. Additionally, genetic or teratogenic factors may have been attributed to the demise of the first twin and the anomalies seen in the other twin. While such instances are rare, they are important to consider when counseling patients regarding outcomes associated with a monochorionic vanished twin.

  6. Clinical-radiological evaluation of sequelae of stereotactic radiosurgery for intracranial arteriovenous malformations

    Energy Technology Data Exchange (ETDEWEB)

    Levy, R.P.; Fabrikant, J.I.; Frankel, K.A.; Phillips, M.H.; Steinberg, G.K.; Marks, M.P.; DeLaPaz, R.L.; Chuang, F.Y.S.

    1989-12-01

    Stereotactic heavy-charged-particle Bragg peak radiosurgery has been used to treat 322 patients with surgically-inaccessible intracranial vascular malformations. (The clinical results of this method for the treatment of angiographically demonstrable arteriovenous malformations (AVMs) and angiographically occult vascular malformations (AOVMs) of the brain are described in separate reports of this symposium). The great majority of patients have had an uneventful post-treatment course with satisfactory health outcomes. However, several categories of delayed sequelae of stereotactic radiosurgery have been identified, involving the vascular structures essential for the integrity of the brain tissue and the brain parenchyma directly. These categories reflect both reaction to injury and to alterations in regional hemodynamic status, and include vasogenic edema, occlusion of functional vasculature, radiation necrosis, and local or remote effects on cerebral arterial aneurysms. 10 refs., 7 figs., 1 tab.

  7. Exposure to selective serotonin reuptake inhibitors and the risk of congenital malformations

    DEFF Research Database (Denmark)

    Solem, Espen Victor Jimenez; Andersen, Jon Thor Trærup; Petersen, Morten;

    2012-01-01

    . PARTICIPANTS: Pregnant women in Denmark between 1997 and 2009 and their offspring. PRIMARY OUTCOME MEASURES: For each SSRI, ORs for major congenital malformations were estimated using multivariable logistic regression models for women exposed to an SSRI during the first trimester and for women with paused...... exposure during pregnancy. RESULTS: The authors identified 848¿786 pregnancies; 4183 were exposed to an SSRI throughout the first trimester and 806 pregnancies paused exposure during pregnancy. Risks of congenital malformations of the heart were similar for pregnancies exposed to an SSRI throughout...... the first trimester, adjusted OR 2.01 (95% CI 1.60 to 2.53), and for pregnancies with paused SSRI treatment during pregnancy, adjusted OR 1.85 (95% CI 1.07 to 3.20), p value for difference: 0.94. The authors found similar increased risks of specific congenital malformations of the heart for the individual...

  8. Trimethoprim Use prior to Pregnancy and the Risk of Congenital Malformation

    DEFF Research Database (Denmark)

    Andersen, Jon Trærup; Petersen, Morten; Jimenez-Solem, Espen;

    2013-01-01

    (OR) of major congenital malformation was 1.87, 95% confidence interval (CI) 1.25-2.81. There was a significant increase in major malformations of the heart (OR = 2.49; 1.18-5.26) and limbs (OR = 2.18; 1.13-4.23). Conclusions. In this study, we found an association between exposure to trimethoprim...... during the 12 weeks before conception and an increased risk of heart and limb defects.......Objectives. The aim of the study was to investigate whether the use of the antifolate antibiotic trimethoprim during the 12 weeks before conception was associated with congenital malformations. Methods. We conducted a nationwide register-based cohort study including all Danish women giving birth...

  9. Restudy of malformations of the internal auditory meatus, cochlear nerve canal and cochlear nerve.

    Science.gov (United States)

    Li, Youjin; Yang, Jun; Liu, Jinfen; Wu, Hao

    2015-07-01

    The present study aims to restudy the correlation between the internal auditory meatus (IAM), the cochlear nerve canal (CNC), the cochlear nerve (CN) and inner ear malformations. In this retrospective study design, the abnormal diameter of the IAM, CNC and CN in patients with any kind of inner ear malformations was evaluated using multi-slice spiral computed tomography (MSCT) (37 patients) and magnetic resonance imaging (MRI) (18 patients). Of 37 MSCT-diagnosed patients, 2 had IAM atresia, 11 IAM stenosis, 22 enlarged IAM, and 2 normal IAM with an abnormal CN. MRI diagnoses of 18 patients revealed 8 cases of aplastic CN, 6 hypoplastic CN, and 4 normal CN. CNC stenosis was associated with CN hypoplasia (P malformations of the IAM, CNC and CN.

  10. Quantitative analysis of Chiari-like malformation and syringomyelia in the Griffon Bruxellois dog.

    Directory of Open Access Journals (Sweden)

    Susan P Knowler

    Full Text Available This study aimed to develop a system of quantitative analysis of canine Chiari-like malformation and syringomyelia on variable quality MRI. We made a series of measurements from magnetic resonance DICOM images from Griffon Bruxellois dogs with and without Chiari-like malformation and syringomyelia and identified several significant variables. We found that in the Griffon Bruxellois dog, Chiari-like malformation is characterized by an apparent shortening of the entire cranial base and possibly by increased proximity of the atlas to the occiput. As a compensatory change, there appears to be an increased height of the rostral cranial cavity with lengthening of the dorsal cranial vault and considerable reorganization of the brain parenchyma including ventral deviation of the olfactory bulbs and rostral invagination of the cerebellum under the occipital lobes.

  11. The incidence of congenital malformations and variations in Göttingen minipigs.

    Science.gov (United States)

    Ellemann-Laursen, S; Marsden, E; Peter, B; Downes, N; Coulby, D; Grossi, A B

    2016-09-01

    Knowledge of the incidence of spontaneous congenital abnormalities is critical for the accurate interpretation of findings in teratogenicity studies in any species. In this paper, results of the examination of 1739 neonatal Göttingen Minipigs are presented. Over the 2-year period under consideration, the incidence of external and visceral malformations was less than 0.2 and 0.1%, respectively. The most common external malformations were syndactyly, limb hyperflexion, domed head and scoliosis. The most common internal malformations were undescended testes, ventricular septal defect, diaphragmatic hernia and atrial septal defects. Pentadactyly and variation in the aortic arch's bifurcation (absent truncus bicaroticus) were the most common variations. These data will help support the use of the Göttingen Minipig as a non-rodent species in embryofetal development studies where concerns persist about the availability of background data.

  12. Identification and characterization of Fusarium mangiferae as pathogen of mango malformation in India

    Directory of Open Access Journals (Sweden)

    Pradeep Kumar

    Full Text Available ABSTRACT Fusarium mangiferae (=F. subglutinans isolates collect from malformed samples from major mango-growing area of North India. Molecular identification and characterization of eleven most virulent isolates of F. mangiferae, based on pathogenicity tests used for the present study. Species-specific, genus specific ITS-PCR and PCR-RFLP performed for the accurate and easy detection of F. mangiferae. The rDNA-ITS 28S region sequences used for phylogenetic analysis of Fusarium isolates from India and other countries for homology search between them. The phylogenetic tree divided the isolates into three clades (i.e., American, Asian and African and showed the high level of sequence based similarity (69-99% among all Fusarium sequences from Asia. Thus, claimed Fusarium mangiferae as dominant pathogen of mango malformation. Furthermore, we conclude that exploiting the nested PCR coupled with PCR-RFLP will help in rapid and accurate detection of F. mangiferae pathogen of mango malformation.

  13. Clinical results of stereotactic heavy-charged-particle radiosurgery for intracranial angiographically occult vascular malformations

    Energy Technology Data Exchange (ETDEWEB)

    Levy, R.P.; Fabrikant, J.I.; Phillips, M.H.; Frankel, K.A.; Steinberg, G.K.; Marks, M.P.; DeLaPaz, R.L.; Chuang, F.Y.S.; Lyman, J.T.

    1989-12-01

    Angiographically occult vascular malformations (AOVMs) of the brain have been recognized for many years to cause neurologic morbidity and mortality. They generally become symptomatic due to intracranial hemorrhage, focal mass effect, seizures or headaches. The true incidence of AOVMs is unknown, but autopsy studies suggest that they are more common than high-flow angiographically demonstrable arteriovenous malformations (AVMs). We have developed stereotactic heavy-charged-particle Bragg peak radiosurgery for the treatment of inoperable intracranial vascular malformations, using the helium ion beams at the Lawrence Berkeley Laboratory 184-inch Synchrocyclotron and Bevatron. This report describes the protocol for patient selection, radiosurgical treatment planning method, clinical and neuroradiologic results and complications encountered, and discusses the strengths and limitations of the method. 10 refs., 1 fig.

  14. Meckel-Gruber syndrome concomitant with Dandy-Walker malformation: prenatal sonographic diagnosis in two cases.

    Science.gov (United States)

    Yapar, E G; Ekici, E; Dogan, M; Gökmen, O

    1996-10-01

    Meckel-Gruber syndrome is an autosomal recessive disorder which comprises a characteristic triad of major abnormalities: renal cystic dysplasia, occipital encephalocele, and postaxial polydactyly. Because of the recessive inheritance, prenatal sonographic diagnosis is paramount for informed genetic counselling of affected pregnancies. However, Meckel-Gruber syndrome may demonstrate variation in phenotypic expression when some malformations are different from those traditionally accepted and cases may be evaluated as a different syndrome. The aim of this paper is to emphasise the phenotypic variability in Meckel-Gruber syndrome, and the importance of the prenatal sonography in the diagnosis. We also suggest that Dandy-Walker malformation or Dandy-Walker variant be accepted as one of the malformations which occur in the central nervous system as a part of the syndrome.

  15. Fetal diffusion tensor quantification of brainstem pathology in Chiari II malformation.

    Science.gov (United States)

    Woitek, Ramona; Prayer, Daniela; Weber, Michael; Amann, Gabriele; Seidl, Rainer; Bettelheim, Dieter; Schöpf, Veronika; Brugger, Peter C; Furtner, Julia; Asenbaum, Ulrika; Kasprian, Gregor

    2016-05-01

    This prenatal MRI study evaluated the potential of diffusion tensor imaging (DTI) metrics to identify changes in the midbrain of fetuses with Chiari II malformations compared to fetuses with mild ventriculomegaly, hydrocephalus and normal CNS development. Fractional anisotropy (FA) and apparent diffusion coefficient (ADC) were calculated from a region of interest (ROI) in the midbrain of 46 fetuses with normal CNS, 15 with Chiari II malformations, eight with hydrocephalus and 12 with mild ventriculomegaly. Fetuses with different diagnoses were compared group-wise after age-matching. Axial T2W-FSE sequences and single-shot echo planar DTI sequences (16 non-collinear diffusion gradient-encoding directions, b-values of 0 and 700 s/mm(2), 1.5 Tesla) were evaluated retrospectively. In Chiari II malformations, FA was significantly higher than in age-matched fetuses with a normal CNS (p = .003), while ADC was not significantly different. No differences in DTI metrics between normal controls and fetuses with hydrocephalus or vetriculomegaly were detected. DTI can detect and quantify parenchymal alterations of the fetal midbrain in Chiari II malformations. Therefore, in cases of enlarged fetal ventricles, FA of the fetal midbrain may contribute to the differentiation between Chiari II malformation and other entities. • FA in the fetal midbrain is elevated in Chiari II malformations. • FA is not elevated in hydrocephalus and mild ventriculomegaly without Chiari II. • Measuring FA may help distinguish different causes for enlarged ventricles prenatally. • Elevated FA may aid in the diagnosis of open neural tube defects. • Elevated FA might contribute to stratification for prenatal surgery in Chiari II.

  16. Congenital malformations among babies born following letrozole or clomiphene for infertility treatment.

    Science.gov (United States)

    Sharma, Sunita; Ghosh, Sanghamitra; Singh, Soma; Chakravarty, Astha; Ganesh, Ashalatha; Rajani, Shweta; Chakravarty, B N

    2014-01-01

    Clomiphene citrate (CC) is the first line drug for ovulation induction but because of its peripheral antiestrogenic effect, letrozole was introduced as the 2nd line drug. It lacks the peripheral antiestrogenic effect and is associated with similar or even higher pregnancy rates. Since letrozole is a drug for breast cancer, its use for the purpose of ovulation induction became controversial in the light of studies indicating an increased incidence of congenital malformations. To evaluate and compare the incidence of congenital malformations among offsprings of infertile couples who conceived naturally or with clomiphene citrate or letrozole treatment. A retrospective cohort study done at a tertiary infertility centre. A total of 623 children born to infertile women who conceived naturally or following clomiphene citrate or letrozole treatment were included in this study. Subjects were sorted out from medical files of both mother and newborn and follow up study was done based on the information provided by parents through telephonic conversations. Babies with suspected anomaly were called and examined by specialists for the presence of major and minor congenital malformations. Other outcomes like multiple pregnancy rate and birth weight were also studied. Overall, congenital malformations, chromosomal abnormalities were found in 5 out of 171 (2.9%) babies in natural conception group and 5 out of 201 babies in the letrozole group (2.5%) and in 10 of 251 babies in the CC group (3.9%). There was no significant difference in the overall rate of congenital malformations among children born to mothers who conceived naturally or after letrozole or CC treatment. Congenital malformations have been found to be comparable following natural conception, letrozole and clomiphene citrate. Thus, the undue fear against letrozole may be uncalled for.

  17. Congenital malformations among babies born following letrozole or clomiphene for infertility treatment.

    Directory of Open Access Journals (Sweden)

    Sunita Sharma

    Full Text Available Clomiphene citrate (CC is the first line drug for ovulation induction but because of its peripheral antiestrogenic effect, letrozole was introduced as the 2nd line drug. It lacks the peripheral antiestrogenic effect and is associated with similar or even higher pregnancy rates. Since letrozole is a drug for breast cancer, its use for the purpose of ovulation induction became controversial in the light of studies indicating an increased incidence of congenital malformations.To evaluate and compare the incidence of congenital malformations among offsprings of infertile couples who conceived naturally or with clomiphene citrate or letrozole treatment.A retrospective cohort study done at a tertiary infertility centre.A total of 623 children born to infertile women who conceived naturally or following clomiphene citrate or letrozole treatment were included in this study. Subjects were sorted out from medical files of both mother and newborn and follow up study was done based on the information provided by parents through telephonic conversations. Babies with suspected anomaly were called and examined by specialists for the presence of major and minor congenital malformations. Other outcomes like multiple pregnancy rate and birth weight were also studied.Overall, congenital malformations, chromosomal abnormalities were found in 5 out of 171 (2.9% babies in natural conception group and 5 out of 201 babies in the letrozole group (2.5% and in 10 of 251 babies in the CC group (3.9%.There was no significant difference in the overall rate of congenital malformations among children born to mothers who conceived naturally or after letrozole or CC treatment.Congenital malformations have been found to be comparable following natural conception, letrozole and clomiphene citrate. Thus, the undue fear against letrozole may be uncalled for.

  18. Surgical strategy for cerebral arteriovenous malformation with acute hemorrhage

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    BACKGROUND: Presently, there have been craniocerebral operation, interventional embolization,stereotactic radiotherapy and other methods in treating cerebral arteriovenous malformation (AVM).However, the standard of different therapeutic regimens of cerebral AVM at the acute stage of hemorrhage has not been completely identified.OBJECTIVE: To observe the clinical characteristics and therapeutic effects of AVM at the acute stage of hemorrhage in patients, and to analyze corresponding therapeutic strategies.DESIGN: Non-randomized clinical observation.SETTING: Department of Neurosurgery, Foshan First People's Hospital, Sun Yat-sen University.PARTICIPANTS: Forty-six patients with cerebral AVM complicated by hemorrhage admitted to Department of Neurosurgery, Foshan First People's Hospital between January 1999 and December 2006,were involved in this study. All the patients were confirmed as cerebral AVM complicated by hemorrhage by brain angiography or/and postoperational pathology. The involved patients, 32 males and 14 females,averaged 25 years old, ranging from 6 to 62 years. Informed consents of therapeutic items were obtained from the relatives of all the patients.METHODS: ①On admission, skull CT and brain angiography were conducted in the involved subjects. ②The therapeutic method was confirmed according to the consciousness, hematoma region, hematoma volume,imageological results following comprehensive analysis: DSA examination was permitted to identify the size and position of abnormal vessel mass, and the distribution of feeding artery and draining vein. Craniocerebral operation was carried out as early as possible in patients with severe or progressive conscious disturbance, in which most of hematoma with obvious occupied effect or cerebral hernia was located in lobe of brain. The primary thing was to clean intracerebral hematoma for in time decompression. According to different situations, corresponding therapeutic measures were used for resecting abnormal

  19. Unexpected diagnosis of superficial neurofibroma in a lesion with imaging features of a vascular malformation

    Energy Technology Data Exchange (ETDEWEB)

    O' Keefe, Patrick; Reid, Janet; Morrison, Stuart [Cleveland Clinic Foundation, Department of Radiology, Cleveland, OH (United States); Vidimos, Allison [Cleveland Clinic Foundation, Department of Dermatology, Cleveland, OH (United States); DiFiore, John [Cleveland Clinic Foundation, Department of Pediatric Surgery, Cleveland, OH (United States)

    2005-12-01

    Plexiform neurofibroma is a pathognomonic, often disabling feature of neurofibromatosis type I. Although the target-like appearance of deep plexiform neurofibroma on T2-weighted MRI has been well-described, a second superficial form of plexiform neurofibroma has differing imaging features. We report a 15-year-old boy who presented with multiple cutaneous lesions exhibiting clinical and imaging characteristics of a venolymphatic malformation. These lesions were histologically proved to represent superficial plexiform neurofibromas. We wish to emphasize the unique MR findings of superficial plexiform neurofibromas; these findings are different from the imaging characteristics of the deep form and can be confused with a low-flow vascular malformation. (orig.)

  20. Surgical History of Sleep Apnea in Pediatric Patients with Chiari Type 1 Malformation.

    Science.gov (United States)

    Pomeraniec, Isaac Jonathan; Ksendzovsky, Alexander; Yu, Pearl L; Jane, John A

    2015-10-01

    Sleep apnea represents a relative indication for posterior fossa decompression in pediatric patients with Chiari malformation type 1. Duraplasty was associated with improvement of sleep apnea in 100% of patients and dural splitting with improvement in 50% of patients. Duraplasty and dural splitting were associated with a similar reduction in tonsillar herniation on radiographic imaging of 58% (37% excluding tonsillectomy) and 35%, respectively. Longitudinal follow-up studies of patients with either neurologic deficits or severe symptoms will further elucidate the natural history of Chiari malformation type 1 and more appropriately gauge the risk-benefit tradeoff of surgical intervention.