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

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Williams Helen

2008-04-01

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

Clinical and neuroradiological features of syringomyelia associated with Chiari malformation

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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).

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

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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

Clinical and radiological outcome of craniocervical osteo-dural decompression for Chiari I-associated syringomyelia.

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Spena, Giannantonio; Bernucci, Claudio; Garbossa, Diego; Valfrè, Walter; Versari, Pietro

2010-07-01

The aim of this study was to analyze the long-term clinical and radiological outcomes of craniocervical decompression for patients affected by Chiari I-related syringomyelia. We performed a retrospective analysis of a group of patients affected by Chiari I-associated syringomyelia treated by craniocervical decompression (CCD). Surgical and technical aspects and preoperative factors predicting outcome were discussed. A total of 36 patients were reviewed. There were 17 men and 19 women (female/male ratio 1.11), and the mean age was 40.4 (range 18-68). The most important preoperative symptoms were related to myelopathy (pain, weakness, atrophy, spasticity, sensory loss, and dysesthesias). Most syrinxes were in the cervico-thoracic region (61.1%), and the majority of patients had tonsillar descent between the foramen magnum and C1. All patients underwent a craniectomy less than 3 cm in diameter followed by a duroplasty with dura substitute. No arachnoid manipulation was necessary. Three patients (8.1%) experienced cerebrospinal fluid leaks that resolved without complications. At a mean follow up of 40 months (range 16-72) 80.5% of patients exhibited improvement over their preoperative neurological examination while 11.1% stabilized. The syrinx shrank in 80.5% of patients. Chi-square test showed that preoperative syrinx extension and degree of tonsillar descent did not correlate with clinical and neuroradiological postoperative evolution. Treating syringomyelia associated in Chiari I malformation with CCD leads to a large percentage of patients with satisfying results and no irreversible complications.

Chiari Malformation

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... the back of the skull, just above the spine. When a child has a Chiari malformation, the space for the ... a portion of the top vertebra in the spine to reduce pressure in that area. If a child with a Chiari malformation also has hydrocephalus, the ...

[Papillary oedema revealing Arnold Chiari malformation type 1: about a case].

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Imane, Mouhoub; Asmae, Maadane; Toufik, Ramdani; Rachid, Sekhsoukh

2016-01-01

Arnold Chiari malformation type 1 is defined as a herniation of the cerebellar tonsils into the foramen magnum of more than 5 mm. Symptoms are most commonly dominated by occipital headache, torticollis and sometimes swallowing disorders. Ophthalmologically abnormal convergences, oculomotor palsy and diplopia are the main clinical signs. We report the case of a 9 year old child, who presented with visual loss evolving since 6 months. Ophthalmologic examination showed visual acuity of 4/10 in both eyes, retained ocular motility and rotational nystagmus. The examination of the anterior segment of the eye showed megalocornea with no evidence of goniodysgenesis, iridodonesis associated with atrophy of the dilator muscle and microcoria with lazy photomotor reflex. Normal intraocular pressure was 14 mmHg. Ocular fundus examination, despite difficulties in performing it, objectified bilateral papilledema (stage II). General physical examination showed torticollis, scoliosis and a tetra-pyramidal syndrome. MRI showed Chiari malformation type I associated with hydrocephalus and syringomyelia. Neurosurgical intervention based on internal CSF drainage with occipitocervical osteo-dural decompression was proposed. The evolution was favorable with regression of clinical signs. Ophthalmologically, there was a regression of papilledema but visual acuity remained stationary. The occurrence of papilledema associated with Chiari malformation type 1 is rare, it has been only reported in 2% of symptomatic patients. Its pathophysiology is still poorly understood. The originality of our study consists in the association of cerebellar malformations with ocular malformations including megalocornea and microcoria which make ophthalmologic examination more difficult to perform.

Sleep Disordered Breathing in Children and Adolescents with Chiari Malformation Type I

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Losurdo, Anna; Dittoni, Serena; Testani, Elisa; Di Blasi, Chiara; Scarano, Emanuele; Mariotti, Paolo; Paternoster, Giovanna; Di Rocco, Concezio; Massimi, Luca; Della Marca, Giacomo

2013-01-01

Study Objectives: Chiari malformation Type I (CM-I) has been associated with sleep disordered breathing (SDB). The aim of this study was to evaluate the prevalence of SDB in CM-I and its clinical correlates in a population of children and adolescents. Methods: Fifty-three consecutive children and adolescents affected by CM-I were enrolled (27 girls and 26 boys, mean age 10.3 ± 4.3, range: 3-18 years). All patients underwent neurological examination, MRI, and polysomnography (PSG). Otorhinolaryngologic clinical evaluation was performed in patients with polysomnographic evidence of sleep-related upper airway obstruction. Results: Mean size of the herniation was 9.5 ± 5.4 mm. Fourteen patients had syringomyelia, 5 had hydrocephalus, 31 presented neurological signs, 14 had epileptic seizures, and 7 reported poor sleep. PSG revealed SDB in 13 subjects. Patients with SDB, compared to those without SDB, had a higher prevalence hydrocephalus (p = 0.002), syringomyelia (p = 0.001), and neurological symptoms (p = 0.028). No significant difference was observed in age, gender, prevalence of epilepsy, and size of the herniation. Obstructive SDB was associated with syringomyelia (p = 0.004), whereas central SDB was associated with hydrocephalus (p = 0.034). Conclusions: In our population of CM-I patients the prevalence of SDB was 24%, lower than that reported in literature. Moreover, our findings suggest that abnormalities in cerebrospinal fluid dynamics in CM-I, particularly syringomyelia and hydro-cephalus, are associated with SDB. Citation: Losurdo A; Dittoni S; Testani E; Di Blasi C; Scarano E; Mariotti P; Paternoster G; Di Rocco C; Massimi L; Della Marca G. Sleep disordered breathing in children and adolescents with Chiari malformation Type I. J Clin Sleep Med 2013;9(4):371-377. PMID:23585753

Chiari malformations: diagnosis, treatments and failures.

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Abd-El-Barr, M M; Strong, C I; Groff, M W

2014-12-01

Chiari malformations refer to abnormalities of the hindbrain originally described by the Austrian pathologist Hans Chiari in the early 1890s. These malformations range from herniation of the cerebellar tonsils through the foramen magnum to complete agenesis of the cerebellum. In this review, we review the different classification schemes of Chiari malformations. We discuss the different signs and symptoms that the two most common malformations present with and diagnostic criteria. We next discuss current treatment paradigms, including the new measure of possible in utero surgery to help decrease the incidence of Chiari type II malformations. There is also a small discussion of treatment failures and salvage procedures in these difficult cases. Chiari malformations are a difficult clinical entity to treat. As more is learned about the genetic and environmental factors relating to their characteristics, it will be interesting if we are able to predict which treatments are better suited for different patients. Similarly, with the evolution of in utero techniques especially for Chiari II malformations, it will be interesting to see if the incidence and practice of treating these difficult patients will change.

Headache in children with Chiari I malformation.

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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.

Relationship between Cough-Associated Changes in CSF Flow and Disease Severity in Chiari I Malformation: An Exploratory Study Using Real-Time MRI.

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Bezuidenhout, A F; Khatami, D; Heilman, C B; Kasper, E M; Patz, S; Madan, N; Zhao, Y; Bhadelia, R A

2018-05-10

Currently no quantitative objective test exists to determine disease severity in a patient with Chiari I malformation. Our aim was to correlate disease severity in symptomatic patients with Chiari I malformation with cough-associated changes in CSF flow as measured with real-time MR imaging. Thirteen symptomatic patients with Chiari I malformation (tonsillar herniation of ≥5 mm) were prospectively studied. A real-time, flow-sensitized pencil-beam MR imaging scan was used to measure CSF stroke volume during rest and immediately following coughing and relaxation periods (total scan time, 90 seconds). Multiple posterior fossa and craniocervical anatomic measurements were also obtained. Patients were classified into 2 groups by neurosurgeons blinded to MR imaging measurements: 1) nonspecific Chiari I malformation (5/13)-Chiari I malformation with nonspecific symptoms like non-cough-related or mild occasional cough-related headache, neck pain, dizziness, paresthesias, and/or trouble swallowing; 2) specific Chiari I malformation (8/13)-patients with Chiari I malformation with specific symptoms and/or objective findings like severe cough-related headache, myelopathy, syringomyelia, and muscle atrophy. The Spearman correlation was used to determine correlations between MR imaging measurements and disease severity, and both groups were also compared using a Mann-Whitney U test. There was a significant negative correlation between the percentage change in CSF stroke volume (resting to postcoughing) and Chiari I malformation disease severity ( R = 0.59; P = .03). Mann-Whitney comparisons showed the percentage change in CSF stroke volume (resting to postcoughing) to be significantly different between patient groups ( P = .04). No other CSF flow measurement or anatomic measure was significantly different between the groups. Our exploratory study suggests that assessment of CSF flow response to a coughing challenge has the potential to become a valuable objective noninvasive

Cranial CT signs of the Chiari II malformation

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Naidich, T.P.; Pudlowski, R.M.

1980-01-01

Serial CT scans of 32 patients with proved Chiari II malformations and 19 patients with hydrocephalus and meningomyelocele (presumed to have Chiari II malformation) were reviewed and compared with CT scans from 30 patients with non-chiari aqueductal stenosis to develop criteria for identifying the Chiari II malformation and for differentiating it from other forms of hydrocephalus. Correlation with post-mortem specimens of Chiari II brains provided a pathologic basis for the CT signs observed. (orig.) [de

CT in three cases of syringomyelia

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Ugawa, Yoshikazu; Sakuta, Manabu; Yagishita, Akira; Inoue, Kiyoharu.

1983-01-01

We presented the results of our experience with metrizamide computed tomographic myelography (MCTM) and myelography in three cases of syringomyelia. In case 1, MCTM revealed Chiari malformation, even though this malformation was not clear in the myelography. In case 3, Chiari malformation was apparent in MCTM and in the myelography. In case 1, CT of the spinal cord without enhancement (plain CT) showed a syrinx in the cervical spinal cord, and MCTM made the syrinx clearer with enhancement. MCTM also demonstrated a cavity at the levels of Th 6 and L 1 of the vertebra. In case 2, a syrinx was disclosed in MCTM, in spite of normal myelography. In case 3, myelography demonstrated a spinal cord swelling. MCTM made a syrinx less clear than plain CT. Not only MCTM but also plain CT is an excellent method for the recognition of syringomyelia. The non-invasive plain CT is the first choice of the examinations in cases with syrinogomyelia, because MCTM may make a syrinx obscure. CT and MCTM have to be performed at many levels of the spinal cord in case with syringomyelia. CT or MCTM may demonstrate a syrinx or a cavity at the levels of the spinal cord, where no syrinx is suspected to exist by clinical features, as well as at the levels appearing normal in the myelography. (author)

Surgical treatment of Arnold-Chiari malformation type I in an adult patient

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Marković Marko

2008-01-01

Full Text Available Background. Herniation of the cerebellar tonsils through the foramen magnum into the cervical spinal canal with obliteration of the cerebellomedullary cistern is the primary feature of Arnold-Chiari type I malformation (ACM I. It is considered to be congenital malformation, although there have been reported cases of an acquired form. Case report. We presented a female patient, 45-year old, with ACM I without syringomyelia as a rare and unusual clinical image, as well as the effect of decompressive surgery in the treatment of this malformation. The patient was admitted to the Department of Neurosurgery with clinical signs of truncal ataxia worsening during the last six years. Moderate quadriparesis with predominant lower extremity involvement and the signs of the cranial nerves damages occured during the last seven months before admission, with progressive clinical course up to the date of admission. Neurosurgical treatment that included suboccipital medial craniectomy with resection of posterior arch C1 vertebrae and C2 laminectomy resulted in a significant clinical improvement and a much better quality of life. Conclusion. Posterior craniovertebral decompression with microsurgical reduction of the cerebellar tonsils and placement of an artificial dural graft is a treatment of choice in severe forms of ACM I without syringomyelia. .

Chiari I malformation associated with turner syndrome

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Kamble Jayaprakash Harsha

2017-01-01

Full Text Available Turner syndrome (TS is a rare genetic disease due to the absence of one X chromosome. Patients with TS have more subtle neurological/neuropsychiatric problems, while headache is an uncommon clinical presentation which needs attention. We report a 12-year-old child presenting with typical cough headache. Her magnetic resonance imaging revealed Chiari I malformation associated with TS. To the best of our knowledge, Chiari I malformation associated with TS is not described in literature. We report the first case of TS associated with Chiari I malformation. Interestingly, Chiari I malformation is also associated with Noonan's syndrome, which is a close morphological mimicker of TS, raising the possibility of sharing similar pathogenesis in both conditions.

Co-existence of Chiari malformation type I and Epstein-Barr virus meningoencephalitis in a 3-year-old child: case report and review of the literature

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Solomou, E.K.; Kotsarini, C.; Badra, F.A.; Krepis, A.; Papanastasiou, D.; Patriarcheas, G.

2005-01-01

In the present report we describe an unusual case of a 3-year-old girl who was admitted to our hospital with Epstein-Barr virus meningoencephalitis. Brain magnetic resonance imaging revealed diffuse abnormalities in white matter and Chiari I malformation with cervical and thoracic hydro-syringomyelia. (orig.)

International survey on the management of Chiari 1 malformation and syringomyelia: evolving worldwide opinions.

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Singhal, Ash; Cheong, Alexander; Steinbok, Paul

2018-03-12

In 2003, pediatric neurosurgeons were surveyed under the auspices of the education committee of the International Society for Pediatric Neurosurgery (ISPN) to determine prevailing opinions regarding the management of Chiari I malformation (C1M) with and without associated syringomyelia. In the ensuing years, there has been further information from multiple C1M studies, with regards to indications, success rates of different surgical interventions, and complications. The purpose of this study was to re-evaluate current opinions and practices in pediatric C1M. Pediatric neurosurgeons worldwide were surveyed, using an e-mail list provided by the ISPN communication committee chairperson. Respondents were given scenarios similar to the 2003 C1M survey in order to determine opinions regarding whether to surgically intervene, and if so, with which operations. Of 300 surveys electronically distributed, 122 responses were received (40.6% response rate)-an improvement over the 30.8% response rate in 2003. Pediatric neurosurgeons from 34 different countries responded. There was broad consensus that non-operative management is appropriate in asymptomatic C1M (> 90%) as well as asymptomatic C1M with a small syrinx (> 65%). With a large syrinx, a majority (almost 80%) recommended surgical intervention. Scoliotic patients with CIM were generally offered surgery only when there was a large syrinx. There has been a shift in the surgical management over the past decade, with a bone-only decompression now being offered more commonly. There remains, however, great variability in the operation offered. This survey, with a relatively strong response rate, and with broad geographic representation, summarizes current worldwide expert opinion regarding management of pediatric C1M. Asymptomatic C1M and C1M with a small syrinx are generally managed non-operatively. When an operation is indicated, there has been a shift towards less invasive surgical approaches.

Expansion of Chiari I-associated syringomyelia after posterior-fossa decompression.

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Gil, Z; Rao, S; Constantini, S

2000-09-01

Chiari I malformation (CMI) is an abnormality that involves caudal herniation of the cerebellar tonsils into the foramen magnum. CMI has been shown to be closely associated with the development of syringomyelia (SM). Several theories have emerged to explain the apparent correlation between the existence of CMI with subsequent development of SM. However, the exact mechanism of the evolution of SM is still subject to controversy. We report here the case of a 12-year-old girl admitted to hospital with headache, vomiting, ataxia, and moderate pyramidal signs. Radiological evaluation revealed the presence of CMI, accompanied by a small SM. The patient underwent posterior fossa decompression and improved significantly. She was re-admitted 6 months later with clinical evidence of progressive spinal cord dysfunction. MR revealed gross expansion of the syrinx. This case raises questions regarding the pathophysiology of CMI and its association with SM. The case indicates the need for neurological and radiological follow-up for patients undergoing posterior fossa decompression due to CMI, even for those without an initial syrinx. This is the first report known to us of expansion of a syrinx following decompression of an associated CMI.

Scoliosis Associated With Syringomyelia

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Gh Fathi

2007-01-01

Full Text Available Introduction: The differential diagnosis of idiopathic and syringomyelia associated scoliosis is important because corrective surgery for scoliosis associated with syringomyelia prior to management of syringomyelia can be dangerous. There are important imaging indicators for diagnosis of syringomyelia associated with scoliosis. A few of these indicators have been assessed in our study. Methods: A retrospective descriptive study including 38 patients with both scoliosis and syringomyelia was performed at the Shafa Yahyaeian center. Standard scoliosis series radiographs and MRI of all patients were studied. The type of scoliosis, location and magnitude of deformity, kyphosis or lordosis in the sagittal plane, location and size of syrinx were assessed. Results: Thoracic kyphosis was present in 94.7% of patients. 37% of patients had scoliosis with convexity to left. Arnold –chiari malformation was present in 36% and cord tethering in 21% of patients. The locations of syrinx were as follows: 47.4%cervical, 44.6 thoracic, 2.7% lumbar and 5.3% were holocord. Conclusion: Kyphosis, abscence of lordosis in sagittal plane, progressive scoliosis and scoliosis with convexity to left are atypical findings and could be indicators of the presence of syringomyelia. If these indicators are present, a diagnosis of idiopathic scoliosis should be made with caution.

Terminal hemimyelocystocele associated with Chiari II malformation

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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.

Syringomyelia and Craniocervical Junction Abnormalities in Chihuahuas.

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Kiviranta, A-M; Rusbridge, C; Laitinen-Vapaavuori, O; Hielm-Björkman, A; Lappalainen, A K; Knowler, S P; Jokinen, T S

2017-11-01

Chiari-like malformation (CM) and syringomyelia (SM) are widely reported in Cavalier King Charles Spaniels and Griffon Bruxellois dogs. Increasing evidence indicates that CM and SM also occur in other small and toy breed dogs, such as Chihuahuas. To describe the presence of SM and craniocervical junction (CCJ) abnormalities in Chihuahuas and to evaluate the possible association of CCJ abnormalities with SM. To describe CM/SM-related clinical signs and neurologic deficits and to investigate the association of CM/SM-related clinical signs with signalment, SM, or CCJ abnormalities. Fifty-three client-owned Chihuahuas. Prospective study. Questionnaire analyses and physical and neurologic examinations were obtained before magnetic resonance and computed tomography imaging. Images were evaluated for the presence of SM, CM, and atlantooccipital overlapping. Additionally, medullary kinking, dorsal spinal cord compression, and their sum indices were calculated. Scratching was the most common CM/SM-related clinical sign and decreased postural reaction the most common neurologic deficit in 73 and 87% of dogs, respectively. Chiari-like malformation and SM were present in 100 and 38% of dogs, respectively. Syringomyelia was associated with the presence of CM/SM-related clinical signs (P = 0.034), and medullary kinking and sum indices were higher in dogs with clinical signs (P = 0.016 and P = 0.007, respectively). Syringomyelia and CCJ abnormalities are prevalent in Chihuahuas. Syringomyelia was an important factor for the presence of CM/SM-related clinical signs, but many dogs suffered from similar clinical signs without being affected by SM, highlighting the clinical importance of CCJ abnormalities in Chihuahuas. Copyright © 2017 The Authors. Journal of Veterinary Internal Medicine published by Wiley Periodicals, Inc. on behalf of the American College of Veterinary Internal Medicine.

Syringomyelia and Craniocervical Junction Abnormalities in Chihuahuas

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Kiviranta, A.‐M.; Rusbridge, C.; Laitinen‐Vapaavuori, O.; Hielm‐Björkman, A.; Lappalainen, A.K.; Knowler, S.P.; Jokinen, T.S.

2017-01-01

Background: Chiari-like malformation (CM) and syringomyelia (SM) are widely reported in Cavalier King Charles Spaniels and Griffon Bruxellois dogs. Increasing evidence indicates that CM and SM also occur in other small and toy breed dogs, such as Chihuahuas. Objectives: To describe the presence of SM and craniocervical junction (CCJ) abnormalities in Chihuahuas and to evaluate the possible association of CCJ abnormalities with SM. To describe CM/SM-related clinical signs and neuro...

Nuclear magnetic resonance (NMR) imaging of Arnold-Chiari type I malformation with hydromyelia

International Nuclear Information System (INIS)

DeLaPaz, R.L.; Brady, T.J.; Buonanno, F.S.; New, P.F.; Kistler, J.P.; McGinnis, B.D.; Pykett, I.L.; Taveras, J.M.

1983-01-01

Saturation recovery nuclear magnetic resonance (NMR) images and metrizamide computed tomography (CT) scans were obtained in an adult patient with a clinical history suggestive of syringomyelia. Both NMR and CT studies showed low lying cerebellar tonsils. The CT study demonstrated central cavitation of the spinal cord from the midthoracic to midcervical levels but could not exclude an intramedullary soft tissue mass at the cervico-medullary junction. The NMR images in transverse, coronal, and sagittal planes demonstrated extension of an enlarged central spinal cord cerebrospinal fluid space to the cervico-medullary junction. This was felt to be strong evidence for exclusion of an intramedullary soft tissue mass and in favor of a diagnosis of Arnold-Chiari Type I malformation with hydromyelia. The noninvasive nature of spinal cord and cervico-medullary junction evaluation with NMR is emphasized

Fetal diffusion tensor quantification of brainstem pathology in Chiari II malformation

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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.)

Fetal diffusion tensor quantification of brainstem pathology in Chiari II malformation

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Woitek, Ramona; Prayer, Daniela; Weber, Michael; Schoepf, Veronika; Furtner, Julia; Asenbaum, Ulrika; Kasprian, Gregor; Amann, Gabriele; Seidl, Rainer; Bettelheim, Dieter; Brugger, Peter C.

2016-01-01

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. (orig.)

Dandy–Walker malformation is a rare cause of syringomyelia in adults

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G. Yu. Evzikov

2017-01-01

Full Text Available Neural tube defects are the most common central nervous system malformation. Dandy–Walker malformation (DWM is a rare abnormality of the posterior cranial fossa, which is generally diagnosed in the prenatal period or early infancy.The paper describes a case of the late clinical manifestation of DWM, which has caused syringomyelia. All variants of pathological changes within the Dandy–Walker complex very rarely become a cause of syringomyelia. Only four cases of DWM, in which syringomyelia was found in adults, are known.The authors believe that formation of syringomyelia cysts in these patients is associated with the impaired circulation of normal cerebrospinal fluid between the superior cistern and the subarachnoid spaces of the spinal cord due to the caudal dislocation of the cyst formed in the fourth ventricle.Decompression of the craniovertebral junction, by resecting the caudal portion of the cyst in the foramen magnum, and repair of the free communication between the superior cistern and the cerebrospinal fluid spaces of the spinal cord, which is complemented by duroplasty, are pointed out to be an optimal treatment in these patients.

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

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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.

Delamination technique together with longitudinal incisions for treatment of Chiari I/syringomyelia complex: a prospective clinical study

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Savas Yildiray

2009-06-01

Full Text Available Abstract Background Treatment modalities in Chiari malformation type 1(CMI accompanied by syringomyelia have not yet been standardized. Pathologies such as a small posterior fossa and thickened dura mater have been discussed previously. Various techniques have been explored to enlarge the foramen magnum and to expand the dura. The aim of this clinical study was to explore a new technique of excision of the external dura accompanied by widening the cisterna magna and making longitudinal incisions in the internal dura, without disturbing the arachnoid. Methods Ten patients with CMI and syringomyelia, operated between 2004 and 2006, formed this prospective series. All cases underwent foramen magnum decompression of 3 × 3 cm area with C1–C2 (partial laminectomy, resection of foramen magnum fibrous band, excision of external dura, delamination and widening of internal dura with longitudinal incisions. Results Patients were aged between 25 and 58 years and occipital headache was the most common complaint. The mean duration of preoperative symptoms was 4 years and the follow-up time was 25 months. Clinical progression was halted for all patients; eight patients completely recovered and two reported no change. In one patient, there was a transient cerebrospinal fluid (CSF fistula that was treated with tissue adhesive. While syringomyelia persisted radiologically with radiological stability in five patients; for three patients the syringomyelic cavity decreased in size, and for the remaining two it regressed completely. Conclusion Removal of the fibrous band and the outer dural layer, at level of foramen magnum, together with the incision of inner dural layer appears to be good technique in adult CMI patients. The advantages are short operation time, no need for duraplasty, sufficient posterior fossa decompression, absence of CSF fistulas as a result of extra arachnoidal surgery, and short duration of hospitalization. Hence this surgical technique has

Two Cases of Arnold-Chiari Malformation with Respiratory Failure

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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.

Association of HTLV-I with Arnold Chiari syndrome and syringomyelia

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Graça Maria de Castro Viana

Full Text Available HTLV-I is associated with a broad spectrum of manifestations, including tropical spastic paraparesis and adult T-cell leukemia/lymphoma. Arnold Chiari syndrome is a condition characterized by herniation of the cerebellar tonsils through the foramen magnum. This condition should be suspected in all patients with headache and impaired motor coordination. Syringomyelia is a developmental anomaly that leads to the formation of an intramedullary cavity. Its clinical presentation is classically characterized by syringomyelic dissociation of sensation, with suspended distribution in the proximal portion of the trunk and upper limbs and preservation in other regions. We report here a case of association of the three diseases, which is rare in clinical practice, illustrating the difficulty in the diagnosis and therapeutic management of these conditions.

The Chiari III malformation: an unusual and asymptomatic variant in an 11-year old child

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Sirikci, Akif; Bayazit, Yildirim A.; Bayram, Metin

2001-01-01

Chiari III malformation is an extremely rare condition, and is characterized by the hindbrain herniation into a low occipital or high cervical encephalocele together with the pathologic and imaging features of the Chiari II malformation. In this report, an unusual variant of the Chiari III malformation was diagnosed in an 11-year-old girl. She had an encephalocele operation when she was a newborn, and has been asymptomatic since then. The clinical and imaging findings of this case were presented

The Chiari III malformation: an unusual and asymptomatic variant in an 11-year old child

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Sirikci, Akif E-mail: sirikci@yahoo.com; Bayazit, Yildirim A.; Bayram, Metin

2001-09-01

Chiari III malformation is an extremely rare condition, and is characterized by the hindbrain herniation into a low occipital or high cervical encephalocele together with the pathologic and imaging features of the Chiari II malformation. In this report, an unusual variant of the Chiari III malformation was diagnosed in an 11-year-old girl. She had an encephalocele operation when she was a newborn, and has been asymptomatic since then. The clinical and imaging findings of this case were presented.

Clinical findings in syringomyelia in contrast to the lesions seen in NMR imaging

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Besser, R.

1987-01-01

Syringomyelia is a congenital disease of the spinal cord that can progress throughout the patient's lifetime. The primary symptoms of this disorder are described. The authors discuss how the diagnosis of syringomyelia is difficult because the illness progresses very slowly and can remain stable for decades. They describe their utilization of a superior method for the diagnosis of syringomyelic cavities in the spinal cord: NMR-imaging. It is not invasive and the entire brain stem and cervical cord can be shown on one picture. The caudal spinal cord can also be examines. Other diseases, such as, meningioma and glioma, can be excluded and one can assess the possibility whether a Arnold-Chiari Malformation may be present

CT findings in Arnold-Chiari malformation

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Tanaka, Y.; Nakamura, S. (Aichi Prefecture Colony, Kasugai (Japan). Central Hospital); Yamada, H.; Kageyama, N.

1981-12-01

CT scans of Arnold-Chiari malformations demonstrate many abnormal findings that are considered to be specific for this type of malformation. Fifty patients with Arnold-Chiari malformations were studied, and their CT findings were analyzed. This number included 14 preshunted neonatal cases and 36 post-shunted infantile cases. Craniolacunia was recognized only in the neonatal cases, but other skull changes, including scaphocephaly and petrous scalloping, were found more frequently in the infantile cases. The posterior fossa abnormality was composed of several specific changes, such as a non-visualized fourth ventricle, a lateral or upward growth of the cerebellum, or a beaking deformity of the midbrain. These findings were far more common in the infantile cases. However, in 7 neonatal cases on which CT cisternography was performed, these posterior fossa changes were well recognized in the majority of cases. Hydrocephalus was found in all cases. In half of the post-shunted infantile cases, the lateral ventricles were markedly collapsed. Characteristic features of the lateral ventricles, such as a protruding of the caudate nuclei, a pointing of the frontal and/or occipital horns, an absent septum pellucidum, or dominently dilated occipital horns, were commonly found in both neonatal and infantile cases. The subarachnoid space was remarkably widened at the retrothalamic cistern and/or the interhemispheric fissure in many cases.

Posterior fossa reconstruction using titanium plate for the treatment of cerebellar ptosis after decompression for Chiari malformation.

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Udani, Vikram; Holly, Langston T; Chow, Daniel; Batzdorf, Ulrich

2014-01-01

We describe our use of a perforated titanium plate to perform a partial posterior fossa cranioplasty in the treatment of cerebellar ptosis and dural ectasia after posterior fossa decompression (PFD). Twelve patients who had undergone PFD underwent posterior fossa reconstruction using a titanium plate. Symptoms were related to either descent of the cerebellum into the decompression or to dural ectasia into the craniectomy defect. Twelve patients who had undergone large suboccipital craniectomies and who presented with persistent headaches and some with neurological symptoms related to syringomyelia, underwent reoperation with placement of a small titanium plate. Ten of 12 patients showed symptomatic improvement after reoperation. Placement of a titanium plate appears to be an effective method of treatment of cerebellar ptosis and dural ectasia after PFD for Chiari malformation. Copyright © 2014 Elsevier Inc. All rights reserved.

A genome-wide association study identifies candidate loci associated to syringomyelia secondary to Chiari-like malformation in Cavalier King Charles Spaniels.

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Ancot, Frédéric; Lemay, Philippe; Knowler, Susan P; Kennedy, Karen; Griffiths, Sandra; Cherubini, Giunio Bruto; Sykes, Jane; Mandigers, Paul J J; Rouleau, Guy A; Rusbridge, Clare; Kibar, Zoha

2018-03-22

Syringomyelia (SM) is a common condition affecting brachycephalic toy breed dogs and is characterized by the development of fluid-filled cavities within the spinal cord. It is often concurrent with a complex developmental malformation of the skull and craniocervical vertebrae called Chiari-like malformation (CM) characterized by a conformational change and overcrowding of the brain and cervical spinal cord particularly at the craniocervical junction. CM and SM have a polygenic mode of inheritance with variable penetrance. We identified six cranial T1-weighted sagittal MRI measurements that were associated to maximum transverse diameter of the syrinx cavity. Increased syrinx transverse diameter has been correlated previously with increased likelihood of behavioral signs of pain. We next conducted a whole genome association study of these traits in 65 Cavalier King Charles Spaniel (CKCS) dogs (33 controls, 32 with extreme phenotypes). Two loci on CFA22 and CFA26 were found to be significantly associated to two traits associated with a reduced volume and altered orientation of the caudal cranial fossa. Their reconstructed haplotypes defined two associated regions that harbor only two genes: PCDH17 on CFA22 and ZWINT on CFA26. PCDH17 codes for a cell adhesion molecule expressed specifically in the brain and spinal cord. ZWINT plays a role in chromosome segregation and its expression is increased with the onset of neuropathic pain. Targeted genomic sequencing of these regions identified respectively 37 and 339 SNPs with significantly associated P values. Genotyping of tagSNPs selected from these 2 candidate loci in an extended cohort of 461 CKCS (187 unaffected, 274 SM affected) identified 2 SNPs on CFA22 that were significantly associated to SM strengthening the candidacy of this locus in SM development. We identified 2 loci on CFA22 and CFA26 that contained only 2 genes, PCDH17 and ZWINT, significantly associated to two traits associated with syrinx transverse

The Role of Cine Flow Magnetic Resonance Imaging in Patients with Chiari 0 Malformation.

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Ozsoy, Kerem Mazhar; Oktay, Kadir; Cetinalp, Nuri Eralp; Gezercan, Yurdal; Erman, Tahsin

2018-01-01

To define the role of phase-contrast cine magnetic resonance imaging (MRI) in deciding the therapeutic strategy and underlying pathophysiology resulting in syrinx formation in patients with Chiari type 0 malformation. Seven patients who were admitted to our clinic with the diagnosis of Chiari 0 malformation from January 2005 to July 2016 were enrolled in the study. All patients underwent a detailed preoperative neurological examination. Entire neuroaxis MRI and phase-contrast cine MRI were obtained preoperatively and postoperatively. Seven patients (5 female and 2 male) with Chiari type 0 malformation fulfilled the inclusion criteria. All of the patients had absent cine flow at the craniovertebral junction except two patients. These five patients underwent surgical interventions; suboccipital decompression and duraplasty. All of them showed both clinical and radiological improvement in the postoperative period. Cine flow MRI appears to be a useful tool in the management of patients with Chiari 0 malformation. There was a good correlation between the clinical presentation and cine flow preoperatively, and between clinical improvement and cine flow in the postoperative period.

Abnormalities in auditory evoked potentials of 75 patients with Arnold-Chiari malformations types I and II

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Henriques Filho Paulo Sergio A.

2006-01-01

Full Text Available OBJECTIVE: To evaluate the frequency and degree of severity of abnormalities in the auditory pathways in patients with Chiari malformations type I and II. METHOD: This is a series-of-case descriptive study in which the possible presence of auditory pathways abnormalities in 75 patients (48 children and 27 adults with Chiari malformation types I and II were analyzed by means of auditory evoked potentials evaluation. The analysis was based on the determination of intervals among potentials peak values, absolute latency and amplitude ratio among potentials V and I. RESULTS: Among the 75 patients studied, 27 (36% disclosed Arnold-Chiari malformations type I and 48 (64% showed Arnold-Chiari malformations type II. Fifty-three (71% of these patients showed some degree of auditory evoked potential abnormalities. Tests were normal in the remaining 22 (29% patients. CONCLUSION: Auditory evoked potentials testing can be considered a valuable instrument for diagnosis and evaluation of brain stem functional abnormalities in patients with Arnold-Chiari malformations type I and II. The determination of the presence and degree of severity of these abnormalities can be contributory to the prevention of further handicaps in these patients either through physical therapy or by means of precocious corrective surgical intervention.

Subdural Fluid Collection and Hydrocephalus After Foramen Magnum Decompression for Chiari Malformation Type I: Management Algorithm of a Rare Complication.

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Rossini, Zefferino; Milani, Davide; Costa, Francesco; Castellani, Carlotta; Lasio, Giovanni; Fornari, Maurizio

2017-10-01

Chiari malformation type I is a hindbrain abnormality characterized by descent of the cerebellar tonsils beneath the foramen magnum, frequently associated with symptoms or brainstem compression, impaired cerebrospinal fluid circulation, and syringomyelia. Foramen magnum decompression represents the most common way of treatment. Rarely, subdural fluid collection and hydrocephalus represent postoperative adverse events. The treatment of this complication is still debated, and physicians are sometimes uncertain when to perform diversion surgery and when to perform more conservative management. We report an unusual occurrence of subdural fluid collection and hydrocephalus that developed in a 23-year-old patient after foramen magnum decompression for Chiari malformation type I. Following a management protocol, based on a step-by-step approach, from conservative therapy to diversion surgery, the patient was managed with urgent external ventricular drainage, and then with conservative management and wound revision. Because of the rarity of this adverse event, previous case reports differ about the form of treatment. In future cases, finding clinical and radiologic features to identify risk factors that are useful in predicting if the patient will benefit from conservative management or will need to undergo diversion surgery is only possible if a uniform form of treatment is used. Therefore, we believe that a management algorithm based on a step-by-step approach will reduce the use of invasive therapies and help to create a standard of care. Copyright © 2017 Elsevier Inc. All rights reserved.

Chiari Type II malformation: Prenatal sonographic findings

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Sadhanandham Shrinuvasan

2015-01-01

Full Text Available Chiari malformations (CM are a group of defects associated with the congenital caudal displacement of the cerebellum and brainstem. A thorough understanding of the sonographic findings is necessary for the diagnosis of CM in the developing fetus. Here, we present the classical imaging findings of CM Type II detected in a 25-year-old primigravida at 26 weeks of gestation by routine sonographic screening.

Use of Morphometric Mapping to Characterise Symptomatic Chiari-Like Malformation, Secondary Syringomyelia and Associated Brachycephaly in the Cavalier King Charles Spaniel.

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Susan P Knowler

Full Text Available To characterise the symptomatic phenotype of Chiari-like malformation (CM, secondary syringomyelia (SM and brachycephaly in the Cavalier King Charles Spaniel using morphometric measurements on mid-sagittal Magnetic Resonance images (MRI of the brain and craniocervical junction.This retrospective study, based on a previous quantitative analysis in the Griffon Bruxellois (GB, used 24 measurements taken on 130 T1-weighted MRI of hindbrain and cervical region. Associated brachycephaly was estimated using 26 measurements, including rostral forebrain flattening and olfactory lobe rotation, on 72 T2-weighted MRI of the whole brain. Both study cohorts were divided into three groups; Control, CM pain and SM and their morphometries compared with each other.Fourteen significant traits were identified in the hindbrain study and nine traits in the whole brain study, six of which were similar to the GB and suggest a common aetiology. The Control cohort had the most elliptical brain (p = 0.010, least olfactory bulb rotation (p = 0.003 and a protective angle (p = 0.004 compared to the other groups. The CM pain cohort had the greatest rostral forebrain flattening (p = 0.007, shortest basioccipital (p = 0.019, but a greater distance between the atlas and basioccipital (p = 0.002 which was protective for SM. The SM cohort had two conformation anomalies depending on the severity of craniocervical junction incongruities; i the proximity of the dens (p <0.001 ii increased airorhynchy with a smaller, more ventrally rotated olfactory bulb (p <0.001. Both generated 'concertina' flexures of the brain and craniocervical junction.Morphometric mapping provides a diagnostic tool for quantifying symptomatic CM, secondary SM and their relationship with brachycephaly. It is hypothesized that CM pain is associated with increased brachycephaly and SM can result from different combinations of abnormalities of the forebrain, caudal fossa and craniocervical junction which compromise

Posterior fossa decompression with duraplasty in Chiari surgery: A technical note

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Marcelo Ferreira Sabba

Full Text Available Summary Chiari malformation (CM is the most common and prevalent symptomatic congenital craniocervical malformation. Radiological diagnosis is established when the cerebellar tonsils are located 5 mm or more below the level of the foramen magnum on magnetic resonance imaging (MRI. Surgical treatment is indicated whenever there is symptomatic tonsillar herniation or syringomyelia/hydrocephalus. The main surgical treatment for CM without craniocervical instability (such as atlantoaxial luxation is posterior fossa decompression, with or without duraplasty. The authors describe in details and in a stepwise fashion the surgical approach of patients with CM as performed at the State University of Campinas, emphasizing technical nuances for minimizing the risks of the procedure and potentially improving patient outcome.

Syringomyelia with Chiari I Malformation Presenting as Hip Charcot Arthropathy: A Case Report and Literature Review

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Roya Memarpour

2015-01-01

Full Text Available Neuroarthropathy (neuropathic osteoarthropathy, also known as Charcot joint, is a condition characterized by a progressive articular surface destruction in the setting of impaired nociceptive and proprioceptive innervation of the involved joint. It is seen most commonly in the foot and ankle secondary to peripheral neuropathy associated with diabetes mellitus. Cases of hip (Charcot neuroarthropathy are rare and almost exclusively reported in patients with neurosyphilis (tabes dorsalis. We report a case of a 36-year-old man who presented to the emergency department complaining of right hip pain. On physical examination, pain and thermal sensory deficits were noted in the upper torso with a cape-like distribution, as well as signs of an upper motor neuron lesion in the left upper and lower extremities. A magnetic resonance imaging study (MRI of the right hip showed evidence of early articular surface destruction and periarticular edema consistent with hip Charcot arthropathy. An MRI of the spine revealed an Arnold-Chiari type I malformation with extensive syringohydromyelia of the cervical and thoracic spine.

Surgical treatment of Chiari malformation complicated with basilar impression

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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.

Stereological and Morphometric Analysis of MRI Chiari Malformation Type-1

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Alkoç, Ozan Alper; Songur, Ahmet; Eser, Olcay; Toktas, Muhsin; Esi, Ertap; Haktanir, Alpay

2015-01-01

Objective In this study, we aimed to investigate the underlying ethiological factors in chiari malformation (CM) type-I (CMI) via performing volumetric and morphometric length-angle measurements. Methods A total of 66 individuals [33 patients (20-65 years) with CMI and 33 control subjects] were included in this study. In sagittal MR images, tonsillar herniation length and concurrent anomalies were evaluated. Supratentorial, infratentorial, and total intracranial volumes were measured using Cavalieri method. Various cranial distances and angles were used to evaluate the platybasia and posterior cranial fossa (PCF) development. Results Tonsillar herniation length was measured 9.09±3.39 mm below foramen magnum in CM group. Tonsillar herniation/concurrent syringomyelia, concavity/defect of clivus, herniation of bulbus and fourth ventricle, basilar invagination and craniovertebral junction abnormality rates were 30.3, 27, 18, 2, 3, and 3 percent, respectively. Absence of cisterna magna was encountered in 87.9% of the patients. Total, IT and ST volumes and distance between Chamberlain line and tip of dens axis, Klaus index, clivus length, distance between internal occipital protuberance and opisthion were significantly decreased in patient group. Also in patient group, it was found that Welcher basal angle/Boogard angle increased and tentorial slope angle decreased. Conclusion Mean cranial volume and length-angle measurement values significantly decreased and there was a congenital abnormality association in nearly 81.5 percent of the CM cases. As a result, it was concluded that CM ethiology can be attributed to multifactorial causes. Moreover, congenital defects can also give rise to this condition. PMID:26713146

Surgical decompression for symptomatic Chiari II malformation in neonates with myelomeningocele

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Vandertop, W. P.; Asai, A.; Hoffman, H. J.; Drake, J. M.; Humphreys, R. P.; Rutka, J. T.; Becker, L. E.

1992-01-01

Between January, 1981, and July, 1991, 17 infants under 1 month of age were admitted to The Hospital for Sick Children with the signs and symptoms of a Chiari II malformation. These patients' presentation included swallowing difficulty (71%), stridor (59%), apneic spells (29%), aspiration (12%),

Surgical treatment of Chiari malformation: review and progress

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ZHANG Yuan-zheng

2012-08-01

Full Text Available The surgical treatment of Chiari malformation (CM began in 1932. With the advance of medical technology, the surgical technique of CM is also in constant improvement. But due to its pathogenesis has not yet clear, there is no accepted optimal method, and different levels of the operation is still controversial. The author reviewed the concept, pathogenesis, diagnosis and surgical treatment of CM. The hot topics and new technological application were also reviewed in this article.

Twelve years of chiari-like malformation and syringomyelia scanning in Cavalier King Charles Spaniels in the Netherlands: Towards a more precise phenotype.

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Katrien Wijnrocx

Full Text Available Chiari-like malformation (CM, syringomyelia (SM and middle ear effusion (also called PSOM are three conditions that frequently occur in Cavalier King Charles Spaniels (CKCS. Both CM and SM are currently screened in the Netherlands prior to breeding and are graded according to the British Veterinary Association's Kennel Club (BVA/KC scheme. This study evaluated the prevalence and estimated genetic parameter of CM, SM and middle ear effusion from 12 years of screening results. For SM, the classical method using the BVA/KC scheme, was compared with exact measuring of the central canal dilation. For CM, the BVA/KC scheme was compared with a more detailed scheme. Next to this the presence of microchip artifacts was assessed. 1249 screening of 1020 dogs were re-evaluated. Results indicated the presence of CM in all dogs, suggesting it has become a breed-specific characteristic. And although different grades of CM were observed, the condition did not deteriorate over time. SM was present in 39% of the dogs and a clear age effect was demonstrated, with SM increasing with age. This emphasizes the importance of screening at appropriate age, since SM can worsen with increasing age. One alternative is to promote repeated measures. The presence of middle ear effusion in this study was 19%-21% for dogs younger than 3 years, and 32%-38% for dogs older than 3 years. In as much as 60%, microchip artifacts were noticed, leading to the recommendation to place microchips in another location in breeds that are susceptible to developing SM. Finally, this study estimated the heritability of CM in this population, due to the lack of phenotypic variance, to be very low at 0.02-0.03. The heritability for SM central canal dilatation to be 0.30, compared to 0.13 for the classical BVA/KC method, using a model including the age effect and the combined effect of veterinary clinic and year of the evaluation. Genetic correlations were rather small, ranging from 0.16-0.33. As a

A points-based algorithm for prognosticating clinical outcome of Chiari malformation Type I with syringomyelia: results from a predictive model analysis of 82 surgically managed adult patients.

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Thakar, Sumit; Sivaraju, Laxminadh; Jacob, Kuruthukulangara S; Arun, Aditya Atal; Aryan, Saritha; Mohan, Dilip; Sai Kiran, Narayanam Anantha; Hegde, Alangar S

2018-01-01

OBJECTIVE Although various predictors of postoperative outcome have been previously identified in patients with Chiari malformation Type I (CMI) with syringomyelia, there is no known algorithm for predicting a multifactorial outcome measure in this widely studied disorder. Using one of the largest preoperative variable arrays used so far in CMI research, the authors attempted to generate a formula for predicting postoperative outcome. METHODS Data from the clinical records of 82 symptomatic adult patients with CMI and altered hindbrain CSF flow who were managed with foramen magnum decompression, C-1 laminectomy, and duraplasty over an 8-year period were collected and analyzed. Various preoperative clinical and radiological variables in the 57 patients who formed the study cohort were assessed in a bivariate analysis to determine their ability to predict clinical outcome (as measured on the Chicago Chiari Outcome Scale [CCOS]) and the resolution of syrinx at the last follow-up. The variables that were significant in the bivariate analysis were further analyzed in a multiple linear regression analysis. Different regression models were tested, and the model with the best prediction of CCOS was identified and internally validated in a subcohort of 25 patients. RESULTS There was no correlation between CCOS score and syrinx resolution (p = 0.24) at a mean ± SD follow-up of 40.29 ± 10.36 months. Multiple linear regression analysis revealed that the presence of gait instability, obex position, and the M-line-fourth ventricle vertex (FVV) distance correlated with CCOS score, while the presence of motor deficits was associated with poor syrinx resolution (p ≤ 0.05). The algorithm generated from the regression model demonstrated good diagnostic accuracy (area under curve 0.81), with a score of more than 128 points demonstrating 100% specificity for clinical improvement (CCOS score of 11 or greater). The model had excellent reliability (κ = 0.85) and was validated with

The analysis of the pathophysiology of syringomyelia by means of magnetic resonance imaging

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Abe, Toshiaki

1992-01-01

The pathophysiology of syringomyelia was examined with magnetic resonance imaging (MRI) in 70 patients. According to complications, syringomyelia was classified as being associated with (1) Chiari malformation, (2) both Chiari malformation and basal arachnoiditis, (3) basal arachnoiditis, (4) an obstruction of the foramen Magendie, and (5) spinal arachnoiditis. MRI features in Type 1 included: wedge-shaped herniated tonsils with the cisterna magna, pencil-shaped rostral end of the intraspinal syrinx, and obliterated caudal part of the fourth ventricle. These findings suggested that the herniated tonsils might result in the disturbance of cerebro-spinal fluid (CSF) circulation. In Type 2, the tip of the herniated tonsils was round; a triangular space was noted between the herniated tonsils and the upper spinal cord; the rostral end of the intraspinal syrinx was round; and the caudal part of the fourth ventricle was well visualized. These findings revealed that the brain stem and spinal cord were less pressed, suggesting that CSF circulatory disturbance resulted from basal arachnoiditis around the foramen magnum. In Type 3, the cisterna magna was narrowed by a thickened arachnoid membrane. In type 4, the intraspinal syrinx was directly connected with the fourth ventricle via the patent central canal associated with hydrocephalus. The position of the cerebellar tonsils and the size of the cisterna magna were both normal. In Type 5, a partial adhesion of the arachnoid membrane around the spinal cord was shown, and the syrinx was found extended toward the rostral as well as the caudal direction of the arachnoid adhesion. The rostral end of the syrinx was sometimes changed in size during MRI examinatin. This phenomenon sustained William's theory of 'suck and slosh mechanism' of intraspinal syrinx extension. (N.K.)

Hemifacial spasm in a patient with neurofibromatosis and Arnold-Chiari malformation: a unique case association Espasmo hemifacial em paciente com neurofibromatose e malformação de Arnold-Chiari: uma associação rara

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Andre Carvalho Felício

2007-09-01

Full Text Available BACKGROUND: The association of hemifacial spasm (HFS, Chiari type I malformation (CIM and neurofibromatosis type 1 (NF1 has not been described yet. CASE REPORT: We report the case of a 31-year-old woman with NF1 who developed a right-sided HFS. On magnetic resonance imaging (MRI a CIM was seen without syringomyelia. The patient has been successfully treated with botulinum toxin type A injections for 5 years without major side effects. CONCLUSION:Clinical features of HFS, CMI and NF1 are highlighted together with their possible relationship. Also, therapeutic strategies are also discussed.INTRODUÇÃO: A associação entre espasmo hemifacial (EHF, malformação de Chiari tipo I (MCI e neurofibromatose tipo I (NFI ainda não foi descrita. RELATO DO CASO: Relatamos o caso de mulher com 31 anos com NFI que desenvolveu EHF à direita. Na ressonância magnética (RM foi observada MCI sem seringomielia associada. A paciente foi tratada com sucesso com toxina botulínica tipo A por 5 anos sem efeitos colaterais. CONCLUSÃO: Ressaltamos as características clínicas do EHF, MCI e NFI assim como uma possível relação entre elas. Além disto, discutimos também estratégias terapêuticas.

Quantitative trait loci (QTL study identifies novel genomic regions associated to Chiari-like malformation in Griffon Bruxellois dogs.

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Philippe Lemay

Full Text Available Chiari-like malformation (CM is a developmental abnormality of the craniocervical junction that is common in the Griffon Bruxellois (GB breed with an estimated prevalence of 65%. This disease is characterized by overcrowding of the neural parenchyma at the craniocervical junction and disturbance of cerebrospinal fluid (CSF flow. The most common clinical sign is pain either as a direct consequence of CM or neuropathic pain as a consequence of secondary syringomyelia. The etiology of CM remains unknown but genetic factors play an important role. To investigate the genetic complexity of the disease, a quantitative trait locus (QTL approach was adopted. A total of 14 quantitative skull and atlas measurements were taken and were tested for association to CM. Six traits were found to be associated to CM and were subjected to a whole-genome association study using the Illumina canine high density bead chip in 74 GB dogs (50 affected and 24 controls. Linear and mixed regression analyses identified associated single nucleotide polymorphisms (SNPs on 5 Canis Familiaris Autosomes (CFAs: CFA2, CFA9, CFA12, CFA14 and CFA24. A reconstructed haplotype of 0.53 Mb on CFA2 strongly associated to the height of the cranial fossa (diameter F and an haplotype of 2.5 Mb on CFA14 associated to both the height of the rostral part of the caudal cranial fossa (AE and the height of the brain (FG were significantly associated to CM after 10 000 permutations strengthening their candidacy for this disease (P = 0.0421, P = 0.0094 respectively. The CFA2 QTL harbours the Sall-1 gene which is an excellent candidate since its orthologue in humans is mutated in Townes-Brocks syndrome which has previously been associated to Chiari malformation I. Our study demonstrates the implication of multiple traits in the etiology of CM and has successfully identified two new QTL associated to CM and a potential candidate gene.

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

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

2017-01-01

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

Spontaneous drainage in syringomyelia: magnetic resonance imaging findings

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Bogdanov, E.I.; Mendelevich, E.G.; Ibatullin, M.M.

2000-01-01

We present five cases of syringomyelia associated with Chiari I or other causes of partial obstructions at the cervicomedullary junction, with spontaneous disruption of the wall of a cervical syrinx and formation of a communication between the cavity and the subarachnoid space, shown on axial MRI. MRI can be used to investigate the hydrodynamics, showing the liquid inside the disrupted syrinx wall and the pathway of drainage. The finding of spontaneous drainage may be important for understanding the pathogenesis of syringomyelia and may be helpful for choosing a surgical approach. (orig.)

Spontaneous drainage in syringomyelia: magnetic resonance imaging findings

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Bogdanov, E.I.; Mendelevich, E.G. [Kazan State Medical Univ. (Russian Federation). Dept. of Neurology and Rehabilitation; Ibatullin, M.M. [Republic Medical Diagnostic Centre of Tatarstan, Kazan (Russian Federation). Department of Radiology

2000-09-01

We present five cases of syringomyelia associated with Chiari I or other causes of partial obstructions at the cervicomedullary junction, with spontaneous disruption of the wall of a cervical syrinx and formation of a communication between the cavity and the subarachnoid space, shown on axial MRI. MRI can be used to investigate the hydrodynamics, showing the liquid inside the disrupted syrinx wall and the pathway of drainage. The finding of spontaneous drainage may be important for understanding the pathogenesis of syringomyelia and may be helpful for choosing a surgical approach. (orig.)

Evolutionary hypothesis for Chiari type I malformation.

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Fernandes, Yvens Barbosa; Ramina, Ricardo; Campos-Herrera, Cynthia Resende; Borges, Guilherme

2013-10-01

Chiari I malformation (CM-I) is classically defined as a cerebellar tonsillar herniation (≥5 mm) through the foramen magnum. A decreased posterior fossa volume, mainly due to basioccipital hypoplasia and sometimes platybasia, leads to posterior fossa overcrowding and consequently cerebellar herniation. Regardless of radiological findings, embryological genetic hypothesis or any other postulations, the real cause behind this malformation is yet not well-elucidated and remains largely unknown. The aim of this paper is to approach CM-I under a broader and new perspective, conjoining anthropology, genetics and neurosurgery, with special focus on the substantial changes that have occurred in the posterior cranial base through human evolution. Important evolutionary allometric changes occurred during brain expansion and genetics studies of human evolution demonstrated an unexpected high rate of gene flow interchange and possibly interbreeding during this process. Based upon this review we hypothesize that CM-I may be the result of an evolutionary anthropological imprint, caused by evolving species populations that eventually met each other and mingled in the last 1.7 million years. Copyright © 2013 Elsevier Ltd. All rights reserved.

Anesthesia management for pregnant patient with Arnold-Chiari malformation type I: A case report

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Şaban Yalçın

2012-06-01

Full Text Available The Arnold-Chiari I malformation (ACM is a congenitalanomaly characterized by downward herniation of thecerebellar tonsils into the spinal canal. The anomaly maypresent in a variety of ways with vague symptoms suchas head and limb pains, vertigo, hypoesthesia, weaknessin the extremities. Diagnosis is often difficult and thereforedelayed. Measurement of intracranial pressure in thesepatients is an important measure thus precautions shoulbe taken for avoidance of increased intracranial pressure.In this case report, we discussed the anesthetic managementof a pregnant patient with Arnold Chiari I malformationwho underwent an emergency caesarean section.

MR imaging of syringomyelia secondary to arachnoid adhesions

International Nuclear Information System (INIS)

Mark, A.S.; Andrews, B.; Sanches, J.; Manelfe, C.; Norman, D.; Newton, T.H.

1987-01-01

Arachnoid adhesions have been recognized as a cause of syringomyelia. Ten patients with surgically proven syringomyelia secondary to arachnoid adhesions (seven postraumatic, two postinfectious, one post-Pantopaque) were examined by MR imaging using sagittal and axial T1-weighted and sagittal T2-weighted sequences. A syrinx with loss of the sharp edge between the cord and the subarachnoid space as compared with the sharp interface seen in syringomyelia associated with Chiari I, was demonstrated on T1-weighted sequences in all patients. Intradural arachnoid cysts were found in nine patients. After surgical fenestration of the cyst, four patients improved and five remained unchanged. In one patient the syrinx decreased after fenestration of the cyst. Early detection and fesestration of these cavities may improve the patients' outcome

Anesthetic management in a child with Arnold-Chiari malformation and bilateral vocal cord paralysis.

NARCIS (Netherlands)

Setz, A.C.W.; Boer, H.D. de; Driessen, J.J.; Scheffer, G.J.

2005-01-01

We report a case of a child who was scheduled for an emergency ventriculoperitoneal shunt procedure. The patient had a type II Arnold-Chiari malformation (ACM) and associated hydrocephalus and presented with near complete respiratory obstruction from bilateral abductor vocal cord palsy. Early

Comparison of Porcine and Bovine Collagen Dural Substitutes in Posterior Fossa Decompression for Chiari I Malformation in Adults.

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Lee, Christine K; Mokhtari, Tara; Connolly, Ian D; Li, Gordon; Shuer, Lawrence M; Chang, Steven D; Steinberg, Gary K; Hayden Gephart, Melanie

2017-12-01

Posterior fossa decompression surgeries for Chiari malformations are susceptible to postoperative complications such as pseudomeningocele, external cerebrospinal fluid (CSF) leak, and meningitis. Various dural substitutes have been used to improve surgical outcomes. This study examined whether the collagen matrix dural substitute type correlated with the incidence of postoperative complications after posterior fossa decompression in adult patients with Chiari I malformations. A retrospective cohort study was conducted of 81 adult patients who underwent an elective decompressive surgery for treatment of symptomatic Chiari I malformations, with duraplasty involving a dural substitute derived from either bovine or porcine collagen matrix. Demographics and treatment characteristics were correlated with surgical outcomes. A total of 81 patients were included in the study. Compared with bovine dural substitute, porcine dural substitute was associated with a significantly higher risk of pseudomeningocele occurrence (odds ratio, 5.78; 95% confidence interval, 1.65-27.15; P = 0.01) and a higher overall complication rate (odds ratio, 3.70; 95% confidence interval, 1.23-12.71; P = 0.03) by univariate analysis. There was no significant difference in the rate of meningitis, repeat operations, or overall complication rate between the 2 dural substitutes. In addition, estimated blood loss was a significant risk factor for meningitis (P = 0.03). Multivariate analyses again showed that porcine dural substitute was associated with pseudomeningocele occurrence, although the association with higher overall complication rate did not reach significance. Dural substitutes generated from porcine collagen, compared with those from bovine collagen, were associated with a higher likelihood of pseudomeningocele development in adult patients undergoing Chiari I malformation decompression and duraplasty. Copyright © 2017 Elsevier Inc. All rights reserved.

Cervical spinal canal narrowing in idiopathic syringomyelia

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Struck, Aaron F.; Carr, Carrie M.; Shah, Vinil; Hesselink, John R.; Haughton, Victor M.

2016-01-01

The cervical spine in Chiari I patient with syringomyelia has significantly different anteroposterior diameters than it does in Chiari I patients without syringomyelia. We tested the hypothesis that patients with idiopathic syringomyelia (IS) also have abnormal cervical spinal canal diameters. The finding in both groups may relate to the pathogenesis of syringomyelia. Local institutional review boards approved this retrospective study. Patients with IS were compared to age-matched controls with normal sagittal spine MR. All subjects had T1-weighted spin-echo (500/20) and T2-weighted fast spin-echo (2000/90) sagittal cervical spine images at 1.5 T. Readers blinded to demographic data and study hypothesis measured anteroposterior diameters at each cervical level. The spinal canal diameters were compared with a Mann-Whitney U test. The overall difference was assessed with a Friedman test. Seventeen subjects were read by two reviewers to assess inter-rater reliability. Fifty IS patients with 50 age-matched controls were studied. IS subjects had one or more syrinxes varying from 1 to 19 spinal segments. Spinal canal diameters narrowed from C1 to C3 and then enlarged from C5 to C7 in both groups. Diameters from C2 to C4 were narrower in the IS group (p < 0.005) than in controls. The ratio of the C3 to the C7 diameters was also smaller (p = 0.004) in IS than controls. Collectively, the spinal canal diameters in the IS were significantly different from controls (Friedman test p < 0.0001). Patients with IS have abnormally narrow upper and mid cervical spinal canal diameters and greater positive tapering between C3 and C7. (orig.)

Cervical spinal canal narrowing in idiopathic syringomyelia

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Struck, Aaron F. [Massachusetts General Hospital, Department of Neurology, Boston, MA (United States); Carr, Carrie M. [Mayo Clinic, Department of Radiology, Rochester, MN (United States); Shah, Vinil [University of California San Francisco, Department of Radiology, San Francisco, CA (United States); Hesselink, John R. [University of California San Diego, Department of Radiology, San Diego, CA (United States); Haughton, Victor M. [University of Wisconsin, Department of Radiology, Madison, WI (United States)

2016-08-15

The cervical spine in Chiari I patient with syringomyelia has significantly different anteroposterior diameters than it does in Chiari I patients without syringomyelia. We tested the hypothesis that patients with idiopathic syringomyelia (IS) also have abnormal cervical spinal canal diameters. The finding in both groups may relate to the pathogenesis of syringomyelia. Local institutional review boards approved this retrospective study. Patients with IS were compared to age-matched controls with normal sagittal spine MR. All subjects had T1-weighted spin-echo (500/20) and T2-weighted fast spin-echo (2000/90) sagittal cervical spine images at 1.5 T. Readers blinded to demographic data and study hypothesis measured anteroposterior diameters at each cervical level. The spinal canal diameters were compared with a Mann-Whitney U test. The overall difference was assessed with a Friedman test. Seventeen subjects were read by two reviewers to assess inter-rater reliability. Fifty IS patients with 50 age-matched controls were studied. IS subjects had one or more syrinxes varying from 1 to 19 spinal segments. Spinal canal diameters narrowed from C1 to C3 and then enlarged from C5 to C7 in both groups. Diameters from C2 to C4 were narrower in the IS group (p < 0.005) than in controls. The ratio of the C3 to the C7 diameters was also smaller (p = 0.004) in IS than controls. Collectively, the spinal canal diameters in the IS were significantly different from controls (Friedman test p < 0.0001). Patients with IS have abnormally narrow upper and mid cervical spinal canal diameters and greater positive tapering between C3 and C7. (orig.)

Acute Presentation of Chiari I Malformation with Hemiparesis in a Pediatric Patient.

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Miranda, Stephen P; Kimmell, Kristopher T; Silberstein, Howard J

2016-01-01

Chiari I malformation (CM-I) is defined by cerebellar tonsillar herniation through the foramen magnum. Patients typically present with chronic complaints, including headache, dizziness, and numbness, although there are few reports in the literature of pediatric patients presenting acutely with neurological deficit caused by CM-I. We report a child who presented acutely with hemiparesis and magnetic resonance imaging findings consistent with CM-I and spinal cord edema. A 3-year old boy with normal development presented with difficulty walking and increased drooling. His mother stated he was running into objects and had balance issues for several days. Neurological examination showed ataxia with falling to the right after a few steps and weakness of the right arm and leg. His medical history was remarkable only for mild asthma, although he had recently been treated for an upper respiratory viral infection. Computed tomography of the head demonstrated no brainstem mass. Magnetic resonance imaging of the head and cervical spine showed tonsillar ectopia approximately 2 cm below the craniocervical junction with increased T2 signal in the spinal cord from C1 to C3 consistent with syringomyelia and cord edema. The patient underwent suboccipital craniectomy with removal of the posterior arch of C1 and dural patch graft. His postoperative course was unremarkable, with complete resolution of his symptoms at his 1-month follow-up visit. This case highlights an unusual presentation of CM-I with neurological deficit related to spinal cord edema, possibly precipitated by the "water-hammer" effect of this patient's coughing fits. Providers should be aware of the acute presentations of CM-I. Copyright © 2016 Elsevier Inc. All rights reserved.

Chiari Type I Malformations in Young Adults: Implications for the College Health Practitioner

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Elam, Mary Jane; Vaughn, John A.

2011-01-01

In this article, the authors describe 2 cases of Chiari type I malformation (CM-I) in students presenting to a college health center within a 6-month period. A review of CM-I, including epidemiology, typical presentation, evaluation, and management, is followed by a discussion of the clinical and functional implications of the disorder in an…

Anesthetic and Obstetric Management of Syringomyelia During Labor and Delivery: A Case Series and Systematic Review.

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Garvey, Gráinne Patricia; Wasade, Vibhangini S; Murphy, Kellie E; Balki, Mrinalini

2017-09-01

Syringomyelia is a rare, slowly progressive neurological condition characterized by the presence of a syrinx within the spinal cord. Consensus regarding the safest mode of delivery and anesthetic management in patients with syringomyelia remains controversial and presents management dilemmas. This study reviews the cases of syringomyelia at our institution and provides a systematic review of the literature to guide decisions regarding labor and delivery management. A retrospective review of cases at our hospital from 2002 to 2014 and a systematic review of the literature from 1946 to 2014 were undertaken. Hospital records and electronic databases were interrogated using International Classification of Diseases, 10th Revision codes and the keywords "syringomyelia," "syringobulbia," and "pregnancy." Data regarding demographics, diagnosis, radiology reports, neurological symptoms, mode of delivery, anesthetic management, and maternal-fetal outcomes were collected. We collected and analyzed data on a total of 43 pregnancies in 39 patients. The most common location for syrinx was in the cervicothoracic region (41.9%). The large majority of patients (n = 34; 87%) demonstrated signs and symptoms associated with syringomyelia before delivery. Syringomyelia associated with Arnold Chiari malformation was documented in 49% (n = 21) cases. General anesthesia was the most commonly used (n = 21/30, 70%) anesthetic technique for cesarean delivery. The majority (n = 9/13, 69%) of patients had an epidural sited for labor analgesia. There were no maternal or neonatal complications associated with neuraxial anesthesia; however, 3 cases (14%) raised concerns regarding general anesthesia including difficult intubation, transient worsening of neurological symptoms postpartum, and prolonged muscle paralysis after atracurium. Despite concerns regarding aggravation of the syrinx with vaginal delivery, this mode of delivery has never caused any documented long-term worsening of neurological

Do the cerebellar tonsils move during flexion and extension of the neck in patients with Chiari I malformation? A radiological study with clinical implications.

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Tubbs, R Shane; Kirkpatrick, Christina M; Rizk, Elias; Chern, Joshua J; Oskouian, Rod J; Oakes, W Jerry

2016-03-01

In the past, diagnosis of the Chiari I malformation has primarily been made on midsagittal MRI. We hypothesized that based on the frequent presentation of opisthotonos in patients with hindbrain hernia (primarily Chiari II malformation but sometimes Chiari I malformation) that the hyperextension might be a compensatory technique used by such patients to bring the cerebellar tonsils up out of the cervical spine. This prospective study reviewed imaging of patients with Chiari I malformation who underwent flexion/extension MRI for evaluation of their hindbrain herniation. Age-matched controls were used for comparison. In general, there was elevation of the cerebellar tonsils with extension and increased descent with flexion of the cervical spine. In 72 % of patients, flexion of the neck resulted in descent of the cerebellar tonsils. In 64 % of patients, extension of the neck resulted in ascent of the cerebellar tonsils. In the 14 patients with an associated syrinx, 71 % were found to have caudal movement of the cerebellar tonsils with neck flexion, and only 43 % were observed to have any movement of the cerebellar tonsils in neck extension compared to patients without a syrinx where ascent of the tonsils was seen in only nine during neck extension. Two patients were observed to have the reverse finding of ascent of the cerebellar tonsils with neck flexion and descent of the cerebellar tonsils with neck extension. Five patients had no movement of the cerebellar tonsils in either flexion or extension of the neck, and one of these had a small syrinx. Although minimal and not in all patients, we observed elevation of the herniated cerebellar tonsils with extension of the cervical spine in patients with Chiari I malformation. This finding provides evidence as to why some patients with hindbrain herniation present with opisthotonos and supports earlier findings that CSF flow is reduced at the craniocervical junction in flexion in patients with Chiari I malformation.

Triple A (Allgrove) syndrome: an unusual association with syringomyelia

Science.gov (United States)

2013-01-01

Triple A (Allgrove) syndrome was first described by Allgrove in 1978 in two pairs of siblings. Since then, about 100 cases have been reported, all of them displaying an autosomal recessive pattern of inheritance. Clinical picture is characterized by achalasia, alacrimia and ACTH-resistant adrenal failure. A progressive neurological syndrome including central, peripheral and autonomic nervous system impairment, and mild mental retardation is often associated. The triple A syndrome gene, designated AAAS, is localized on chromosome 12q13. It consists of 16 exons, encoding for a 546 aminoacid protein called ALADIN (Alacrimia-Achalasia-aDrenal Insufficiency Neurologic disorder). We report on a 13 year-old boy presenting with Addison’s disease, dysphagia, muscle weakness, excessive fatigue and recent onset gait ataxia. The analysis of the AAAS gene revealed a homozygous missense mutation in exon 12. It was a T > G transversion at nucleotide position 1224, resulting in a change of leucine at amino acid position 381 into arginine (Leu381Arg or L381R). Brain appearance was found normal at magnetic resonance imaging (MRI) and functional spectroscopy analysis showed normal levels of the main metabolites. Spine MRI showed a cystic cavity within the spinal cord (syringomyelia), localized between the sixth cervical vertebra and the first thoracic vertebra. Cerebellar tonsils descended 7 mm caudal to foramen magnum, consistently with a mild type 1 Chiari malformation. Mild posterior inter-vertebral disk protrusions were evident between T9 and T10 and between L4 and L5. To our knowledge, this is the first report describing type 1 Chiari malformation and multiple spinal cord abnormalities in a patient with Allgrove syndrome. PMID:23800107

Management of uncommon secondary trigeminal neuralgia related to a rare Arnold Chiari type I malformation

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Zafar Ali Khan

2017-12-01

Full Text Available Background Trigeminal neuralgia (TN may sometimes present secondary to an intra-cranial cause. Arnold Chiari Malformation (ACM is downward herniation of the cerebellar tonsils through the foramen magnum that may be a cause of TN like pain in very rare cases. Aims The aim of this brief report is to suggest the proper management of uncommon secondary trigeminal neuralgia related to a rare Arnold Chiari type I malformation. Methods A male patient presented electric shock like stabbing pain on the right side of the face for more than ten years. The symptoms were typical of trigeminal neuralgia except that there was loss of corneal reflex on the right side and the patient also complained of gait & sleep disturbances. Complex and multilevel diagnosis was made. Results A multiplanar imaging through brain acquiring T1/T2W1 revealed ACM Type I Malformation with caudal displacement of cerebellar tonsils through foramen magnum. Conclusion Dental surgeons and oral and Maxillofacial Surgeons should exclude intra-cranial causes by Magnetic Resonance Imaging(MRI in patients of TN presenting with loss of corneal reflex, gait and sleep disturbances due to night time pain episodes.

A rat model of chronic syringomyelia induced by epidural compression of the lumbar spinal cord.

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Lee, Ji Yeoun; Kim, Shin Won; Kim, Saet Pyoul; Kim, Hyeonjin; Cheon, Jung-Eun; Kim, Seung-Ki; Paek, Sun Ha; Pang, Dachling; Wang, Kyu-Chang

2017-10-01

OBJECTIVE There has been no established animal model of syringomyelia associated with lumbosacral spinal lipoma. The research on the pathophysiology of syringomyelia has been focused on Chiari malformation, trauma, and inflammation. To understand the pathophysiology of syringomyelia associated with occult spinal dysraphism, a novel animal model of syringomyelia induced by chronic mechanical compression of the lumbar spinal cord was created. METHODS The model was made by epidural injection of highly concentrated paste-like kaolin solution through windows created by partial laminectomy of L-1 and L-5 vertebrae. Behavioral outcome in terms of motor (Basso-Beattie-Bresnahan score) and urinary function was assessed serially for 12 weeks. Magnetic resonance images were obtained in some animals to confirm the formation of a syrinx and to monitor changes in its size. Immunohistochemical studies, including analysis for glial fibrillary acidic protein, NeuN, CC1, ED-1, and caspase-3, were done. RESULTS By 12 weeks after the epidural compression procedure, syringomyelia formation was confirmed in 85% of the rats (34 of 40) on histology and/or MRI. The syrinx cavities were found rostral to the epidural compression. Motor deficit of varying degrees was seen immediately after the procedure in 28% of the rats (11 of 40). In 13 rats (33%), lower urinary tract dysfunction was seen. Motor deficit improved by 5 weeks after the procedure, whereas urinary dysfunction mostly improved by 2 weeks. Five rats (13%, 5 of 40) died 1 month postoperatively or later, and 3 of the 5 had developed urinary tract infection. At 12 weeks after the operation, IHC showed no inflammatory process, demyelination, or accelerated apoptosis in the spinal cords surrounding the syrinx cavities, similar to sham-operated animals. CONCLUSIONS A novel experimental model for syringomyelia by epidural compression of the lumbar spinal cord has been created. The authors hope that it will serve as an important research

Is Chiari malformation a cause of systemic hypertension and sinus bradycardia? A case report and literature review

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Majid Ghasemi

2011-01-01

Type I Chiari malformation is a disease mostly caused by congenital displacement of cerebellar tonsils through the fo-ramen magnum. The most common symptom is headache, rarely reported with hypertension or sinus bradycardia.

The odontoid process invagination in normal subjects, Chiari malformation and Basilar invagination patients: Pathophysiologic correlations with angular craniometry

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Ferreira, J?nio A.; Botelho, Ricardo V.

2015-01-01

Background: Craniometric studies have shown that both Chiari malformation (CM) and basilar invagination (BI) belong to a spectrum of malformations. A more precise method to differentiate between these types of CVJM is desirable. The Chamberlain′s line violation (CLV) is the most common method to identify BI. The authors sought to clarify the real importance of CLV in the spectrum of craniovertebral junction malformations (CVJM) and to identify possible pathophysiological relationships. Me...

Rare association between cystic fibrosis, Chiari I malformation, and hydrocephalus in a baby: a case report and review of the literature

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Jea Andrew

2011-08-01

Full Text Available Abstract Introduction Cystic fibrosis, an epithelial cell transport disorder caused by mutations of the cystic fibrosis transmembrane conductance regulator gene, is not generally associated with malformations of the central nervous system. We review eight previously published reports detailing an infrequent association between cystic fibrosis and Chiari I malformation. Case presentation To the best of our knowledge, our report describes only the ninth case of a baby presenting with a new diagnosis of cystic fibrosis and Chiari I malformation, in this case in a 10-month-old, full-term Caucasian baby boy from the United States of America. Neurosurgical consultation was obtained for associated developmental delay, macrocephaly, bulging anterior fontanel, and papilledema. An MRI scan demonstrated an extensive Chiari I malformation with effacement of the fourth ventricle, obliteration of the outlets of the fourth ventricle and triventricular hydrocephalus without aqueductal stenosis. Our patient was taken to the operating room for ventriculoperitoneal shunt placement. Conclusions It is possible that the cystic fibrosis transmembrane conductance regulator gene may play a previously unrecognized role in central nervous system development; alternatively, this central nervous system abnormality may have been acquired due to constant valsalva from recurrent coughing or wheezing or metabolic and electrolyte imbalances that occur characteristically in cystic fibrosis.

The incidence of Arnold–Chiari malformation in neurological practice

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E. A. Kantimirova

2015-01-01

Full Text Available Arnold-Chiari malformation (ACM is a group of congenital hindbrain malformations affecting the structural relationships between the cerebellum, brain stem, top cervical spinal cord, and bones of the skull base. In clinical practice, ACM types 0 and 1 are more common and types 2, 3, and 4 belong to rare severe (often fatal congenital malformations.Objective: to study gender differences in the incidence of ACM types 0 and 1 in outpatient neurological practice.Patients and methods. A total 2039 case records of outpatients who had visited a neurologist of the Krasnoyarsk University clinic in 2008–2014 were analyzed. Neurological and neuroradiological (1.5 Tesla brain magnetic resonance imaging, phase-contrast spinal cerebral fluid flow imaging diagnostic techniques were used. 3.4% (70/2039 of cases were randomized according to the criteria of inclusion and exception. An entire sample included 70 ACM patients (median age, 25 [17; 34] years (30 (42.8–7.1% men and 40 (57.2–7.1% women.Results. There was an increase in the incidence of ACM type 1 in the women than in the men. Conclusion. It is necessary to develop a new strategy for the prophylactic medical examination of patients with ACM to improve primary and specialized outpatient health care.

Diagnosis and surgical treatment of a Chiari I-like malformation in an African lion (Panthera leo).

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McCain, Stephanie; Souza, Marcy; Ramsay, Ed; Schumacher, Juergen; Hecht, Silke; Thomas, William

2008-09-01

A 13-mo-old intact male African lion (Panthera leo) presented with a 3-mo history of lethargy, ventral flexion of the neck, abnormal vocalization, and ataxia. Hemogram and serum biochemistries were within normal limits except for the presence of hypokalemia (2.7 mEq/L) and hypochloridemia (108 mEq/L). When no improvement was noted with oral potassium gluconate supplementation, a computed tomography scan of the brain and skull was performed, and no abnormalities were noted. However, magnetic resonance imaging detected occipital bone thickening, crowding of the caudal cranial fossa with cerebellar compression and herniation, and cervical syringohydromyelia, which was consistent with a Chiari I-like malformation. Foramen magnum decompression was performed to relieve the compression of the cerebellum. The animal recovered well with subsequent resolution of clinical signs. Hypovitaminosis A has been proposed previously as the underlying etiology for this malformation in lions with similar clinical presentations. This lion's serum and liver vitamin A concentrations were low (100 ng/ml and 25.31 microg/g, respectively) compared to concentrations reported for domestic carnivores and support hypovitaminosis A as the underlying cause of this animal's Chiari I-like malformation.

Does the mesodermal derangement in Chiari Type I malformation extend to the cervical spine? Evidence from an analytical morphometric study on cervical paraspinal muscles.

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Thakar, Sumit; Kurudi Siddappa, Avinash; Aryan, Saritha; Mohan, Dilip; Sai Kiran, Narayanam Anantha; Hegde, Alangar S

2017-10-01

OBJECTIVE The mesodermal derangement in Chiari Type I malformation (CMI) has been postulated to encompass the cervical spine. The objectives of this study were to assess the cross-sectional areas (CSAs) of cervical paraspinal muscles (PSMs) in patients with CMI without syringomyelia, compare them with those in non-CMI subjects, and evaluate their correlations with various factors. METHODS In this retrospective study, the CSAs of cervical PSMs in 25 patients were calculated on T2-weighted axial MR images and computed as ratios with respect to the corresponding vertebral body areas. These values and the cervical taper ratios were then compared with those of age- and sex-matched non-CMI subjects and analyzed with respect to demographic data and clinicoradiological factors. RESULTS Compared with the non-CMI group, the mean CSA values for the rectus capitis minor and all of the subaxial PSMs were lower in the study group, and those of the deep extensors were significantly lower (p = 0.004). The cervical taper ratio was found to be significantly higher in the study cohort (p = 0.0003). A longer duration of symptoms and a steeper cervical taper ratio were independently associated with lower CSA values for the deep extensors (p = 0.04 and p = 0.03, respectively). The presence of neck pain was associated with a lower CSA value for the deep flexors (p = 0.03). CONCLUSIONS Patients with CMI demonstrate alterations in their cervical paraspinal musculature even in the absence of coexistent syringomyelia. Their deep extensor muscles undergo significant atrophic changes that worsen with the duration of their symptoms. This could be related to a significantly steeper cervical taper ratio that their cervical cords are exposed to. Neck pain in these patients is related to atrophy of their deep flexor muscles. A steeper cervical taper ratio and alterations in the PSMs could be additional indicators for surgery in patients with CMI without syringomyelia.

Asymptomatic Chiari Type I malformation: should patients be advised against participation in contact sports?

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Spencer, Robert; Leach, Paul

2017-08-01

Chiari type I malformation (CM-I) is characterised by caudal displacement of the cerebellar tonsils through the foramen magnum, crowding the craniocervical junction. It is being increasingly diagnosed in asymptomatic patients due to the widespread availability of MRI, and there are case reports of these patients suffering sudden death or neurological injury following head or neck trauma, raising the issue of whether they should be prohibited from contact sport participation, given the likelihood of frequent trauma. General neurosurgical opinion is that patients who are symptomatic and those with an associated spinal cord syrinx should be offered foramen magnum decompression, however asymptomatic patients without syringomyelia are not offered this in the majority of cases. The authors performed a full review of the published literature, including all case reports, case series, studies and literature reviews regarding CM-I and either contact sports or trauma, excluding patients that had undergone surgical intervention and those becoming symptomatic in circumstances other than head or neck trauma. 21 case reports of CM-I patients deteriorating following trauma were identified, including four cases of sudden death following head or neck injury. However, studies of large samples of CM-I patients are yet to capture an incident of sudden death or acute neurological deterioration, suggesting that the risk is very low. CM-I patients may have an increased risk of concussion and post-concussion syndrome compared to the background population however. Overall, the authors feel that there should be no restriction of sports participation for CM-I patients, but a discussion to make them and their families aware of the possible increased risks is important.

Diagnosis of Chiari III malformation by second trimester fetal MRI with postnatal MRI and CT correlation

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Smith, Alice B.; Glenn, Orit A.; Gupta, Nalin; Otto, Carl

2007-01-01

We report a case of Chiari III malformation diagnosed by fetal MRI. Ultrasound (US) performed at a gestational age of 18 weeks demonstrated a posterior skull base cyst. Repeat US at 19 weeks demonstrated neural tissue in the cyst, consistent with an encephalocele. MR imaging at 23 weeks confirmed the presence of an occipital encephalocele, demonstrated additional bony defect in the upper cervical spine, and identified abnormal morphology and position of the brainstem consistent with the diagnosis of Chiari III. Postnatal MRI and CT confirmed the fetal MRI findings and demonstrate the utility of fetal MRI in the early evaluation of songraphically detected posterior fossa abnormalities. (orig.)

Diagnosis of Chiari III malformation by second trimester fetal MRI with postnatal MRI and CT correlation

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Smith, Alice B.; Glenn, Orit A. [University of California, San Francisco, Department of Radiology, San Francisco, CA (United States); Gupta, Nalin [University of California, San Francisco, Department of Neurosurgery, San Francisco, CA (United States); Otto, Carl [California Pacific Medical Center, Department of Perinatology, San Francisco, CA (United States)

2007-10-15

We report a case of Chiari III malformation diagnosed by fetal MRI. Ultrasound (US) performed at a gestational age of 18 weeks demonstrated a posterior skull base cyst. Repeat US at 19 weeks demonstrated neural tissue in the cyst, consistent with an encephalocele. MR imaging at 23 weeks confirmed the presence of an occipital encephalocele, demonstrated additional bony defect in the upper cervical spine, and identified abnormal morphology and position of the brainstem consistent with the diagnosis of Chiari III. Postnatal MRI and CT confirmed the fetal MRI findings and demonstrate the utility of fetal MRI in the early evaluation of songraphically detected posterior fossa abnormalities. (orig.)

Combined Spinal-Epidural Analgesia for Laboring Parturient with Arnold-Chiari Type I Malformation: A Case Report and a Review of the Literature

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Clark K. Choi

2013-01-01

Full Text Available Anesthetic management of laboring parturients with Arnold-Chiari type I malformation poses a difficult challenge for the anesthesiologist. The increase in intracranial pressure during uterine contractions, coughing, valsalva maneuvers, and expulsion of the fetus can be detrimental to the mother during the process of labor and delivery. No concrete evidence has implicated high cerebral spinal fluid pressure on maternal and fetal complications. The literature on the use of neuraxial techniques for managing parturients with Arnold-Chiari is extremely scarce. While most anesthesiologists advocate epidural analgesia for management of labor pain and spinal anesthesia for cesarean section, we are the first to report the use of combined spinal-epidural analgesia for managing labor pain in a pregnant woman with Arnold-Chiari type I malformation. Also, we have reviewed the literature and presented information from case reports and case series to support the safe usage of neuraxial techniques in these patients.

Otto Mennicke (1876-) and the first description of skull base anomalies causing cerebellar tonsillar ectopia: one of the first mentions of the Chiari I malformation.

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Fries, Fabian N; Hendrix, Philipp; Brinker, Titus J; Loukas, Marios; Tubbs, R Shane

2017-05-01

Although Hans Chiari made significant and meaningful contributions to our understanding and classification of hindbrain herniations, others have also contributed to this knowledge. One figure who has been lost to history is Otto Mennicke. Herein, we discuss his role in our understanding of tonsillar ectopia and his life and connection to Hans Chiari. Our knowledge of what is now known as the Chiari malformations has been shaped by several clinicians including Otto Mennicke.

Klippel-Feil syndrome in association with Chiari zero malformation in the setting of acute traumatic spinal cord injury

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Cameron M. McDougall, MD FRCS(C

2017-09-01

Conclusion: This is the first report of a Chiari zero malformation associated with KFS. This patient was managed with an initial conservative approach and delayed posterior fossa decompression. There was steady improvement in his neurological function. This appears to represent a viable treatment approach.

Hydrodynamic study of syringomyelia by MRI and intraoperative ultrasonography

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Moritake, Kouzo; Takaya, Mikio; Minamikawa, Jun; Ishikawa, Masatsune; Kikuchi, Haruhiko; Minami, Shunsuke

1989-01-01

Syringomyelic cavities were studied with magnetic resonance imaging (MRI) in eleven patients with special reference to the hemodynamic contribution to the pathogenesis of syringomyelia. They were also studied intraoperatively with ultrasonography (USG) in five patients. Syrinx cavities combined with lumbosacral lipomyelomeningocele or with spinal stenosis did not present a flow-void phenomenon reflecting pulsatile movements of syrinx fluid. On serial MRI study in those the patients, enlargement of the syrinx cavity was not observed. Syrinx cavities occupying the caudal part of the spinal cord did not develop either. These cases were not treated surgically but followed conservatively. On the other hand, the flow-void sign in the syrinx cavities was present on MRI in patients who also had Chiari type I or type II malformations. They were treated with a syringo-subarachnoid shunt. In these cases, intraoperative USG disclosed marked fluctuation of syrinx cavity size synchronous with the motions of pulmonary ventilation. In all of them, clinical signs and symptoms improved postoperatively to various degrees. These results suggest that both the flow-void sign in the syrinx cavity on MRI and marked fluctaution of cavity size on intraoperative USG are indications for the shunt operation and support William's revised theory (1987). Fluctuation of cystic cavity size synchronous with ventilation suggests that venous pressure in the spinal subarachnoid space contributes to the pathogenesis of syringomyelic cavities. Further analysis of the fluctuation of cystic cavities by video monitoring will provide further information on the etiology and other clinical problems of syringomyelia. (author)

Sports participation with Chiari I malformation.

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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.

A Retrospective 2D Morphometric Analysis of Adult Female Chiari Type I Patients with Commonly Reported and Related Conditions

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Maggie S. Eppelheimer

2018-01-01

Full Text Available Purpose: Researchers have sought to better understand Chiari type I malformation (CMI through morphometric measurements beyond tonsillar position (TP. Soft tissue and bone structures within the brain and craniocervical junction have been shown to be different for CMI patients compared to healthy controls. Yet, several morphological characteristics have not been consistently associated with CMI. CMI is also associated with different prevalent conditions (PCs such as syringomyelia, pseudotumor, Ehlers-Danlos syndrome (EDS, scoliosis, and craniocervical instability. The goal of this study was two-fold: (1 to identify unique morphological characteristics of PCs, and (2 to better explain inconsistent results from case-control comparisons of CMI.Methods: Image, demographic, and PC information was obtained through the Chiari1000, a self-report web-accessed database. Twenty-eight morphometric measurements (MMs were performed on the cranial MR images of 236 pre-surgery adult female CMI participants and 140 female healthy control participants. Custom software was used to measure 28 structures within the posterior cranial fossa (PCF compartment, craniocervical junction, oral cavity, and intracranial area on midsagittal MR images for each participant.Results: Morphometric analysis of adult females indicated a smaller McRae line length in CMI participants with syringomyelia compared to those without syringomyelia. TP was reduced in CMI participants with EDS than those without EDS. Basion to posterior axial line was significantly longer in CMI participants with scoliosis compared to those without scoliosis. No additional MMs were found to differ between CMI participants with and without a specific PC. Four morphometric differences were found to be consistently different between CMI participants and healthy controls regardless of PC: larger TP and a smaller clivus length, fastigium, and corpus callosum height in CMI participants.Conclusion: Syringomyelia, EDS

Orofacial clinical features in Arnold Chiari type I malformation: A case series.

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de Arruda, José-Alcides; Figueiredo, Eugênia; Monteiro, João-Luiz; Barbosa, Livia-Mirelle; Rodrigues, Cleomar; Vasconcelos, Belmiro

2018-04-01

Arnold Chiari malformation (ACM) is characterized by an anatomical defect at the base of the skull where the cerebellum and the spinal cord herniate through the foramen magnum into the cervical spinal canal. Among the subtypes of the condition, ACM type I (ACM-I) is particularly outstanding because of the severity of symptoms. This study aimed to analyze the orofacial clinical manifestations of patients with ACM-I, and discuss their demographic distribution and clinical features in light of the literature. A case series with patients with ACM-I treated between 2012 and 2015 was described. The sample consisted of patients who were referred by the Department of Neurosurgery to the Oral and Maxillofacial Surgery Service of Hospital da Restauração in Brazil for the assessment of facial symptomatology. A questionnaire was applied to evaluate the presence of painful orofacial findings. Data are reported using descriptive statistical methods. Mean patient age was 39.3 years and the sample consisted mostly of male patients. A high prevalence of headache (50%) and pain in the neck (66.7%) and masticatory muscles (50%) was found. Only one patient reported difficulty in performing mandibular movements and two reported jaw clicking sounds. Mean mouth opening was 40.83 mm. ACM-I patients may exhibit orofacial symptoms which may mimic temporomandibular joint disorders. This study brings interesting information that could help clinicians and oral and maxillofacial surgeons to understand this uncommon condition and also help with the diagnosis of patients with similar physical characteristics by referring them to a neurosurgeon. Key words: Arnold-Chiari malformation, facial pain, diagnosis, orofacial.

The Association between Sleep-Disordered Breathing and Magnetic Resonance Imaging Findings in a Pediatric Cohort with Chiari 1 Malformation

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Reshma Amin

2015-01-01

Full Text Available BACKGROUND: The prevalence of sleep-disordered breathing (SDB reported in the literature for Chiari malformation type 1 (CM1 is uniformly high (24% to 70%. In Canada, there is limited access to pediatric polysomnography (PSG. Therefore, the identification of clinical features would be invaluable for triaging these children.

Shunt malfunction causing acute neurological deterioration in 2 patients with previously asymptomatic Chiari malformation Type I. Report of two cases.

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Elliott, Robert; Kalhorn, Stephen; Pacione, Donato; Weiner, Howard; Wisoff, Jeffrey; Harter, David

2009-08-01

Patients with symptomatic Chiari malformation Type I (CM-I) typically exhibit a chronic, slowly progressive disease course with evolution of symptoms. However, some authors have reported acute neurological deterioration in the setting of CM-I and acquired Chiari malformations. Although brainstem dysfunction has been documented in patients with CM-II and hydrocephalus or shunt malfunction, to the authors' knowledge only 1 report describing ventriculoperitoneal (VP) shunt malfunction causing neurological deterioration in a patient with CM-I exists. The authors report on their experience with the treatment of previously asymptomatic CM-I in 2 children who experienced quite different manifestations of acute neurological deterioration secondary to VP shunt malfunction. Presumably, VP shunt malfunction created a positive rostral pressure gradient across a stenotic foramen magnum, resulting in tetraparesis from foramen magnum syndrome in 1 patient and acute ataxia and cranial nerve deficits from syringobulbia in the other. Although urgent shunt revisions yielded partial recovery of neurological function in both patients, marked improvement occurred only after posterior fossa decompression.

Unilateral phrenic nerve stimulation for neurogenic hypoventilation in Arnold Chiari malformation

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Nitin Garg

2013-01-01

Full Text Available Long- term ventilator dependence in patients with neurogenic hypoventilation is associated with significant morbidity and restricts mobility. Diaphragmatic pacing by phrenic nerve stimulation (PNS is a viable alternative. This is a case report of patient with Arnold-Chiari malformation with extensive syrinx who had neurogenic hypoventilation during sleep even after foramen magnum decompression and resolution of the syrinx. Unilateral PNS was done using spinal cord stimulator. With intermittent stimulation for 8 h while asleep, patient could be weaned off the ventilator completely. At 2 years follow- up, patient is ambulant and has returned to his routine activities. PNS is a good treatment tool in patients with neurogenic hypoventilation. Spinal cord stimulator can be used with optimal results. This is first such reported case of using spinal cord stimulator for PNS from India.

Inherited occipital hypoplasia/syringomyelia in the cavalier King Charles spaniel: experiences in setting up a worldwide DNA collection.

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Rusbridge, Clare; Knowler, Penny; Rouleau, Guy A; Minassian, Berge A; Rothuizen, Jan

2005-01-01

Inherited diseases commonly emerge within pedigree dog populations, often due to use of repeatedly bred carrier sire(s) within a small gene pool. Accurate family records are usually available making linkage analysis possible. However, there are many factors that are intrinsically difficult about collecting DNA and collating pedigree information from a large canine population. The keys to a successful DNA collection program include (1) the need to establish and maintain support from the pedigree breed clubs and pet owners; (2) committed individual(s) who can devote the considerable amount of time and energy to coordinating sample collection and communicating with breeders and clubs; and (3) providing means by which genotypic and phenotypic information can be easily collected and stored. In this article we described the clinical characteristics of inherited occipital hypoplasia/syringomyelia (Chiari type I malformation) in the cavalier King Charles spaniel and our experiences in establishing a pedigree and DNA database to study the disease.

A prospective controlled study of sleep respiratory events in patients with craniovertebral junction malformation.

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Botelho, Ricardo Vieira; Bittencourt, Lia Rita Azeredo; Rotta, José Marcos; Tufik, Sergio

2003-12-01

Craniovertebral junction malformation (CVJM) or Chiari malformation in adults, with or without syringomyelia and basilar invagination, produces neuronal dysfunction of the brainstem, cerebellum, cranial nerves, and upper spinal cord. The respiratory center and some of its afferent and efferent components can be altered in these diseases. The authors studied patients with and without CVJM to determine whether this physical feature contributed to sleep disturbances. Respiratory manifestations during sleep were studied prospectively, by using whole-night polysomnography, in 32 symptomatic patients (CVJM group) and 16 healthy volunteers (control group). Patients with CVJM presented with more sleep disturbances (reports of snoring and apnea) than those in the control group. The apnea/hypopnea index values were higher in patients with CVJMs than in the control group (13 +/- 15 compared with 3 +/- 6; p = 0.007) and the rate of central sleep apneas was higher in the CVJM than in the control group (22 +/- 30 compared with 4 +/- 8%; p = 0.009). The apnea/hypopnea index was highest in the subgroup with basilar invagination than in the other subgroups. The central apneic episodes were more frequent in the patients with basilar invagination (35 +/- 40%; p = 0.001) and in those with syringomyelia (17.6 +/- 24.6%; p = 0.003) than in the control group (4 +/- 8%). Patients with symptomatic CVJM, especially those with basilar invagination, presented with more sleep respiratory compromise than did those in the control group. The incidence of sleep apnea/hypopnea syndrome is significantly higher in patients with CVJM.

Siringomielia idiopática a propósito de un caso

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Marlon Martínez

2013-10-01

Full Text Available Title: Idiopathic syringomyelia: a case report.ResumenLa siringomielia es un trastorno que consiste en la formación de uno o varios quistes en la médula espinal, que generalmente inician en la región cervical y pueden extenderse hasta la región torácica o hacia el tronco encefálico. Su etiología es multifactorial, pudiendo ser secundaria a malformación de Arnold-Chiari, causas idiopáticas, y traumatismos. Las manifestaciones clínicas son variadas presentando un curso crónico-progresivo. Se presenta el caso de una mujer de 47 años de edad con diagnóstico de siringomielia cervicotorácica, cuya manifestación inicial fue inusual, aguda y progresiva, ameritando procedimiento quirúrgico con buenos resultados. Se discute sobre la presentación clínica atípica y las medidas terapéuticas quirúrgicas empleadas en éste caso. (DUAZARY 2012 No. 1, 60 - 64AbstractSyringomyelia is a disorder that involves the formation of one o more cysts in the spinal cord, usually begin in the cervical region and extend to the thoracic region or to the brain stem. The etiology is multifactorial and usually is secondarily to Arnold-Chiari malformation, idiopathic causes and trauma. These clinical manifestation are various with a progressive chronic course. The following case report is about a woman of 47 years old, whit diagnosis of cervico-thoracic syringomyelia, whose initial manifestation was unusual, acute and progressive; the patient requires Surgical Procedures with good results. In this case discussed about the clinical atypical presentation and the therapeutic surgical measures used in this case.Keywords: Syringomyelia; cysts; spinal cord; brain stem; Arnold-Chiari malformation; surgical procedures. (MeSH.

Chiari malformation and central sleep apnea syndrome: efficacy of treatment with adaptive servo-ventilation

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Jorge Marques do Vale

2014-10-01

Full Text Available The Chiari malformation type I (CM-I has been associated with sleep-disordered breathing, especially central sleep apnea syndrome. We report the case of a 44-year-old female with CM-I who was referred to our sleep laboratory for suspected sleep apnea. The patient had undergone decompressive surgery 3 years prior. An arterial blood gas analysis showed hypercapnia. Polysomnography showed a respiratory disturbance index of 108 events/h, and all were central apnea events. Treatment with adaptive servo-ventilation was initiated, and central apnea was resolved. This report demonstrates the efficacy of servo-ventilation in the treatment of central sleep apnea syndrome associated with alveolar hypoventilation in a CM-I patient with a history of decompressive surgery.

Audio-vestibular signs and symptoms in Chiari malformation type i. Case series and literature review.

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Guerra Jiménez, Gloria; Mazón Gutiérrez, Ángel; Marco de Lucas, Enrique; Valle San Román, Natalia; Martín Laez, Rubén; Morales Angulo, Carmelo

2015-01-01

Chiari malformation is an alteration of the base of the skull with herniation through the foramen magnum of the brain stem and cerebellum. Although the most common presentation is occipital headache, the association of audio-vestibular symptoms is not rare. The aim of our study was to describe audio-vestibular signs and symptoms in Chiari malformation type i (CM-I). We performed a retrospective observational study of patients referred to our unit during the last 5 years. We also carried out a literature review of audio-vestibular signs and symptoms in this disease. There were 9 patients (2 males and 7 females), with an average age of 42.8 years. Five patients presented a Ménière-like syndrome; 2 cases, a recurrent vertigo with peripheral features; one patient showed a sudden hearing loss; and one case suffered a sensorineural hearing loss with early childhood onset. The most common audio-vestibular symptom indicated in the literature in patients with CM-I is unsteadiness (49%), followed by dizziness (18%), nystagmus (15%) and hearing loss (15%). Nystagmus is frequently horizontal (74%) or down-beating (18%). Other audio-vestibular signs and symptoms are tinnitus (11%), aural fullness (10%) and hyperacusis (1%). Occipital headache that increases with Valsalva manoeuvres and hand paresthesias are very suggestive symptoms. The appearance of audio-vestibular manifestations in CM-I makes it common to refer these patients to neurotologists. Unsteadiness, vertiginous syndromes and sensorineural hearing loss are frequent. Nystagmus, especially horizontal and down-beating, is not rare. It is important for neurotologists to familiarise themselves with CM-I symptoms to be able to consider it in differential diagnosis. Copyright © 2014 Elsevier España, S.L.U. y Sociedad Española de Otorrinolaringología y Patología Cérvico-Facial. All rights reserved.

MR imaging of the spine in children

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Duthoy, M.J.; Lund, G.

1988-08-01

MR imaging was reviewed in 66 pediatric spinal cord patients with diagnoses of posterior fossa tumor, primary spinal cord tumor, metastatic disease, neuroectodermal disorder, congenital malformation, trauma, and demyelinating, neurodegenerative, or metabolic disorders. MR proved to be useful in delineating the extent of posterior fossa and cord tumor including metastasis to the cord. MR was of limited value in demyelinating and metabolic disorders. Arnold Chiari malformations, syringomyelia, tethered cord and meningoceles were all easily evaluated using MR.

Spinning, hurting, still, afraid: Living life spaces with Type I Chiari Malformation.

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Andrews, Gavin J

2018-01-31

Human geography's varied engagement with the brain has involved considerations of the way people know and respond to their environments, and their place-based experiences with emotions, mental illnesses and disorders, intellectual disabilities and particular neurological conditions. This paper argues however that this scholarship could be augmented by, and existing expertise be directed towards, considering physical brain abnormalities and injuries. As a case in point it considers the spatial experience of living with Type 1 Chiari Malformation. Through interviews with four sufferers, the research articulates three domains that they have had to re-negotiate - home space, social space and medical space - emphasizing supportive and challenging aspects of each, as well as meaningful and affective qualities to encounters. The paper concludes with some pointers towards the future study of physical brain abnormalities and injuries and the kinds of knowledge it might create to increase awareness and inform care. Copyright © 2018 Elsevier Ltd. All rights reserved.

Posterior cranial fossa dimensions in the Chiari I malformation: relation to pathogenesis and clinical presentation

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Stovner, L.J.; Bergan, U.; Nilsen, G.; Sjaastad, O.

1993-01-01

Skull dimensions were measured on lateral skull radiographs in 33 adult patients with MRI-verified Chiari I malformations and in 40 controls. The posterior cranial fossa was significantly smaller and shallower in patients than in controls. In the patients, there was a positive correlation between posterior fossa size and the degree of the cerebellar ectopia, which might indicate that a posterior cranial fossa which was originally too small had been expanded by the herniation of hindbrain structures at an early stage. No special clinical presentation was associated with a very small posterior cranial fossa, which may indicate that a small posterior cranial per se has little or no clinical significance, although it may be the primary developmental anomaly. (orig./GD)

Comparision of results between two different techniques of cranio-cervical decompression in patients with Chiari I malformation.

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Kunert, Przemysław; Janowski, Mirosław; Zakrzewska, Agnieszka; Marchel, Andrzej

2009-01-01

A variety of approaches are employed for treatment of Chiari I malformation. They differ in extent of cranio-c ervical decompression. A technique based on arachnoid preservation and duroplasty was introduced in our department in 2001. The aim of the study is to compare between the previous and the present technique. Retrospective analysis of 38 patients with Chiari I malformation treated between 1998 and 2004 was performed. The previous technique including arach- noid incision, coagulation of cerebellar tonsils, and fourth ventricle exploration without duroplasty was used to treat 21 patients (group 1). A further 17 patients were treated with the present technique consisting of arachnoid preservation and duroplasty (group 2). Complication rates as well as early and late results of treatment were evaluated. Karnofsky (KPS), Rankin (RS) and Bidziński (BS) scales were used for evaluation of results. Post-operative complications were detected in 9 patients in group 1 (43%). They included liquorrhoea (5 cases), meningitis (1 case), and symptoms progression (3 cases). There were no surgical complications in group 2 (p = 0.002). Neurological improvement in the early period (until discharge from hospital) occurred in 10 (48%) patients in group 1 and in 13 (76%) in group 2 (p = NS). Further improvement or lack of symptoms progression was found in 58% in group 1 and 82% in group 2 (p = NS). Assessment in KPS, RS and BS showed slightly better results of group 2 but the difference was statistically insignificant. Results of both techniques are comparable. The risk of post-operative complications after extra-arachnoid cranio-cervical decompression with duroplasty is, however, significantly lower.

Pathogenesis of cerebral malformations in human fetuses with meningomyelocele

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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

MRI tight posterior fossa sign for prenatal diagnosis of Chiari type II malformation

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Ando, Kumiko; Ishikura, Reiichi; Ogawa, Masayo; Takada, Yoshihiro; Yamamoto, Satoshi; Fujiwara, Masayuki; Hirota, Shozo [Hyogo College of Medicine, Department of Radiology, Nishinomiya, Hyogo (Japan); Shakudo, Miyuki [Osaka City General Hospital, Department of Radiology, Osaka (Japan); Tanaka, Hiroyuki [Hyogo College of Medicine, Department of Gynecology, Nishinomiya (Japan); Minagawa, Kyoko [Hyogo College of Medicine, Department of Pediatrics, Nishinomiya (Japan)

2007-12-15

Chiari type II malformation (CMII) is one of three hindbrain malformations that display hydrocephalus. We have observed that cerebrospinal fluid (CSF) signal in the posterior fossa, which is always apparent on normal fetal MR images, is not visible in a fetus with CMII. We use the term 'tight posterior fossa' for this MR imaging finding, and evaluate the diagnostic value of this finding on fetal MR images. Included in the study were 21 fetuses which underwent brain MR imaging at 1.5 T using two-dimensional balanced turbo-field-echo (2-D balanced-TFE) in the axial and sagittal planes. Postnatal diagnoses were CMII (n=5), CNS abnormalities other than CMII (n=8), and no abnormality (n=8). A tight posterior fossa was defined as an absent or slit-like water signal space around the hindbrain in the posterior fossa on both sagittal and axial MR images. All CMII fetuses displayed a tight posterior fossa on MR images. Hydrocephalus was visualized in all CMII fetuses and myelomeningocele in four fetuses, but hindbrain herniation was visualized only in two of five fetuses. The CSF signal surrounding the hindbrain was clearly visible in all the other 16 fetuses, including five with hydrocephalus not associated with CMII, although it was slightly narrower in a fetus with a cloverleaf skull than in the normal fetuses. Tight posterior fossa in the presence of hydrocephalus is a useful and characteristic finding of CMII on fetal MRI. (orig.)

MRI tight posterior fossa sign for prenatal diagnosis of Chiari type II malformation

International Nuclear Information System (INIS)

Ando, Kumiko; Ishikura, Reiichi; Ogawa, Masayo; Takada, Yoshihiro; Yamamoto, Satoshi; Fujiwara, Masayuki; Hirota, Shozo; Shakudo, Miyuki; Tanaka, Hiroyuki; Minagawa, Kyoko

2007-01-01

Chiari type II malformation (CMII) is one of three hindbrain malformations that display hydrocephalus. We have observed that cerebrospinal fluid (CSF) signal in the posterior fossa, which is always apparent on normal fetal MR images, is not visible in a fetus with CMII. We use the term 'tight posterior fossa' for this MR imaging finding, and evaluate the diagnostic value of this finding on fetal MR images. Included in the study were 21 fetuses which underwent brain MR imaging at 1.5 T using two-dimensional balanced turbo-field-echo (2-D balanced-TFE) in the axial and sagittal planes. Postnatal diagnoses were CMII (n=5), CNS abnormalities other than CMII (n=8), and no abnormality (n=8). A tight posterior fossa was defined as an absent or slit-like water signal space around the hindbrain in the posterior fossa on both sagittal and axial MR images. All CMII fetuses displayed a tight posterior fossa on MR images. Hydrocephalus was visualized in all CMII fetuses and myelomeningocele in four fetuses, but hindbrain herniation was visualized only in two of five fetuses. The CSF signal surrounding the hindbrain was clearly visible in all the other 16 fetuses, including five with hydrocephalus not associated with CMII, although it was slightly narrower in a fetus with a cloverleaf skull than in the normal fetuses. Tight posterior fossa in the presence of hydrocephalus is a useful and characteristic finding of CMII on fetal MRI. (orig.)

Unusual Ventilatory Response to Exercise in Patient with Arnold-Chiari Type 1 Malformation after Posterior Fossa Decompression

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Keely Smith

2016-01-01

Full Text Available We present a case of a 17-year-old Hispanic male with Arnold-Chiari Type 1 [AC-Type 1] with syringomyelia, status post decompression, who complains of exercise intolerance, headaches, and fatigue with exertion. The patient was found to have diurnal hypercapnia and nocturnal alveolar hypoventilation. Cardiopulmonary testing revealed blunting of the ventilatory response to the rise in carbon dioxide (CO2 resulting in failure of the parallel correlation between increased CO2 levels and ventilation; the expected vertical relationship between PETCO2 and minute ventilation during exercise was replaced with an almost horizontal relationship. No new pathology of the brainstem was discovered by MRI or neurological evaluation to explain this phenomenon. The patient was placed on continuous noninvasive open ventilation (NIOV during the day and CPAP at night for a period of 6 months. His pCO2 level decreased to normal limits and his symptoms improved; specifically, he experienced less headaches and fatigue during exercise. In this report, we describe the abnormal response to exercise that patients with AC-Type 1 could potentially experience, even after decompression, characterized by the impairment of ventilator response to hypercapnia during exertion, reflecting a complete loss of chemical influence on breathing with no evidence of abnormality in the corticospinal pathway.

Craniocervical junction abnormalities with atlantoaxial subluxation caused by ventral subluxation of C2 in a dog

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Harumichi Itoh

2017-03-01

Full Text Available Craniocervical junction abnormalities with atlantoaxial subluxation caused by ventral subluxation of C2 were diagnosed in a 6-month-old female Pomeranian with tetraplegia as a clinical sign. Lateral survey radiography of the neck with flexion revealed atlantoaxial subluxation with ventral subluxation of C2. Computed tomography revealed absence of dens and atlanto-occipital overlapping. Magnetic resonance imaging showed compression of the spinal cord and indentation of caudal cerebellum. The diagnosis was Chiari-like malformation, atlantoaxial subluxation with ventral displacement of C2, atlanto-occipital overlapping, and syringomyelia. The dog underwent foramen magnum decompression, dorsal laminectomy of C1, and ventral fixation of the atlantoaxial joint. Soon after the operation, voluntary movements of the legs were recovered. Finally, the dog could stand and walk without assistance. The dog had complicated malformations at the craniocervical junction but foramen magnum decompression and dorsal laminectomy for Chiari-like malformation, and ventral fixation for atlantoaxial subluxation resulted in an excellent clinical outcome.

Restoration of the efferent phase of the sneeze reflex after regression of an Arnold-Chiari malformation with compression of the medulla oblongata.

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Songu, Murat; Can, Nazan; Gelal, Fazil

2013-01-01

The precise location of the sneeze center in the human brain has not been definitively identified. The aim of this report is to contribute to the effort to detect its location. We report the case of a 13-year-old boy who presented to our outpatient clinic for evaluation of an inability to sneeze. In an attempt to trigger the afferent (nasal) phase of the sneeze reflex, we first applied a cotton swab and later a silver nitrate stick to the patient's nasal mucosa. Once that was accomplished, we observed that the patient could not complete the efferent (expiratory) phase of the sneeze reflex, and thus he did not sneeze. Cranial magnetic resonance imaging (MRI) revealed that his cerebellar tonsils extended approximately 10 mm inferiorly through the foramen magnum, which represented a type I Arnold-Chiari malformation. The tonsils were noted to have compressed the posterolateral portion of the medulla oblongata. At follow-up 21 months later, we noted that the patient was able to sneeze spontaneously as well as with nasal stimulation. Repeat MRI revealed that the Arnold-Chiari malformation had undergone a spontaneous partial regression, which resulted in relief of the compression of the medulla oblongata. We believe that the patient's earlier inability to sneeze might have been attributable to the compression of the medulla oblongata by the cerebellar tonsils and that the site of the compression might represent the location of his sneeze center.

Syringomyelia

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Blegvad, C; Grotenhuis, J A; Juhler, M

2014-01-01

BACKGROUND: The term syringomyelia describes many pathogenetically different disorders, and a variety of attempts to group these based on different criteria have been proposed in the literature. As a consequence a lack of consensus regarding classification and terminology exists. This inconsistency...... pathogenetic theories in relation to syringomyelia. Illustrative cases at our department were included and similar cases of the literature were found using the PubMed database. All material was reviewed with main focus on the classification and terminology used. RESULTS: Despite syringomyelia (G95.......0) and hydromyelia (Q06.4) existing as independent ICD-10 entities, we have shown that the use of classifying terminology for fluid-filled cavities in the spinal cord is indiscriminate and inconsistent. Even though a general agreement on the believed pathogenetic mechanism exists, and the general treatment methods...

Radiological evolution of peri-odontoid pannus in a patient with Chiari I malformation: a case-based review.

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Sanders, Felipe Hada; Wang, Joy M H; Oskouian, Rod J; Tubbs, R Shane; Oakes, W Jerry

2017-08-01

The Chiari I malformation (CIM) is commonly encountered by neurosurgeons and can have different etiologies and clinical presentations. We report a CIM patient who presented with symptoms of ventral brain stem compression and was found to have a large peri-odontoid pannus. Posterior fossa decompression was performed with a planned second-stage odontoidectomy. However, at the 6-month follow-up, postoperative images demonstrated a mostly resolved pannus and improvement of the brain stem compression symptoms, and the patient progressed uneventfully without the need for odontoidectomy. This case illustrates the resolution of a significant and symptomatic peri-odontoid pannus in a patient with CIM without craniocervical fusion or odontoidectomy. Such a case indicates that not all peri-odontoid pannus formations in CIM patients are due to hypermobility at the craniocervical junction.

CT myelography in communicating syringomyelia

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Pamir, M.N.; Ozer, A.F.; Zirh, T.A.; Gurmen, N.; Erzen, C.

1991-01-01

Although the etiology of syringomyelia is not clearly understood, many surgical methods have been proposed for its treatment. One widely used technique in cases of communicating syringomyelia is that of posterior fossa decompression and plugging of the obex (Gardner's Operation). In this paper 5 cases of syringomyelia are presented which were investigated using detailed myelo-computerized tomographic techniques, of which 2 appeared to be communicating syringomyelia and which were treated by posterior fossa decompression and obex plugging. The authors also discuss the place of computed tomography in the differential diagnosis of communicating syringomyelia. (author). 42 refs.; 3 figs.; 2 tabs

The odontoid process invagination in normal subjects, Chiari malformation and Basilar invagination patients: Pathophysiologic correlations with angular craniometry.

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Ferreira, Jânio A; Botelho, Ricardo V

2015-01-01

Craniometric studies have shown that both Chiari malformation (CM) and basilar invagination (BI) belong to a spectrum of malformations. A more precise method to differentiate between these types of CVJM is desirable. The Chamberlain's line violation (CLV) is the most common method to identify BI. The authors sought to clarify the real importance of CLV in the spectrum of craniovertebral junction malformations (CVJM) and to identify possible pathophysiological relationships. We evaluated the CLV in a sample of CVJM, BI, CM patients and a control group of normal subjects and correlated their data with craniocervical angular craniometry. A total of 97 subjects were studied: 32 normal subjects, 41 CM patients, 9 basilar invagination type 1 (BI1) patients, and 15 basilar invagination type 2 (BI2) patients. The mean CLV violation in the groups were: The control group, 0.16 ± 0.45 cm; the CM group, 0.32 ± 0.48 cm; the BI1 group, 1.35 ± 0.5 cm; and the BI2 group, 1.98 ± 0.18 cm. There was strong correlation between CLV and Boogard's angle (R = 0.82, P = 0.000) and the clivus canal angle (R = 0.7, P = 0.000). CM's CLV is discrete and similar to the normal subjects. BI1 and BI2 presented with at least of 0.95 cm CLV and these violations were strongly correlated with a primary cranial angulation (clivus horizontalization) and an acute clivus canal angle (a secondary craniocervical angle).

Relationship between pharyngitis and peri-odontoid pannus: A new etiology for some Chiari I malformations?

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Tubbs, R Shane; Griessenauer, Christoph J; Hendrix, Philipp; Oakes, Peter; Loukas, Marios; Chern, Joshua J; Rozzelle, Curtis J; Oakes, W Jerry

2015-07-01

The pathophysiology underlying Chiari I malformations (CIMs) provides room for debate with several theories attempting to address this issue. We retrospectively reviewed many of our past patients with pediatric CIMs (specifically, those with peri-odontoid pannus), and present a hypothesis for the development of the malformation in some of said patients. Our experience with the pediatric CIM has shown that almost 1 in 20 patients who present with symptoms is found to have a peri-odontoid pannus. These masses ranged in size from 4 to 11 mm in diameter. Forty percent had a history of clinically significant pharyngitis or pharyngeal abscess. Pannus formation around the dens (odontoid) resulted in ventral compression of the craniocervical junction in each of these patients. Highlighting the hypermobility that causes such lesions, following fusion, the pannus and symptoms in several patients were diminished. Impairment of normal cerebrospinal fluid circulation out of the fourth ventricle and across the craniocervical junction appears to be a plausible endpoint in this discussion and a suitable explanation for some patients with CIM. Still, the mechanisms by which cerebrospinal fluid circulation is compromised may be variable and are not well understood. This is the first study dedicated to the evaluation of pannus formation in the CIM population. We hypothesize that pharyngeal inflammatory conditions contribute to the formation and progression of hindbrain herniation in a small subset of patients with CIMs. © 2015 Wiley Periodicals, Inc.

Complicated Pseudomeningocele Repair After Chiari Decompression: Case Report and Review of the Literature.

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De Tommasi, Claudio; Bond, Aaron E

2016-04-01

Pseudomeningocele is a recognised complication after posterior fossa decompression for Chiari malformation. Its management can be challenging and treatment options vary in literature. A difficult-to-treat case of a pseudomeningocele after posterior fossa decompression for a Chiari I malformation is presented. A 34-year-old woman underwent an initial decompression followed by multiple revision surgeries after the development of a symptomatic pseudomeningocele and a low-grade infection. Complications associated with standard treatment modalities, including lumbar drainage and dural repair, are discussed. A review of the existing literature is presented. The reported case ultimately required complete removal of all dural repair materials to eliminate the patient's low-grade infection, a muscular flap, and placement of a ventricular-peritoneal shunt for definitive treatment after a trial of a lumbar drain led to herniation and development of a syrinx. Copyright © 2016 Elsevier Inc. All rights reserved.

Diagnosis of posttraumatic syringomyelia with MRI

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Takahashi, Mutsumasa; Sakamoto, Yuji; Kojima, Ryutaro; Matsuno, Taiji

1988-01-01

Five cases with development of syringomyelia, following long stable period of paraplegia after spinal trauma, have been studied with a resistive MRI unit. In all five cases there was spinal cord damage at the lower dorsal or dorsolumbar vertebral levels. Symptoms and signs of syringomyelia developed after long steady period with increased paresthesia, muscle weakness and pain of the shoulders and upper extremities. MRI revealed syringomyelia involving the dorsal and cervical cord up to the C1 or C2 level. The syringomyelia cavity was hypointense on T1 weighted images, but T2 weighted images showed isointensity in 2 of 4 cases showing no flow void. At the site of the cord injury there was diffuse increased signal intensity within the cord, probably indicating myelomalacia or gliosis. Pathogenesis of post-traumatic syringomyelia was discussed from the standpoint of diagnosis and treatment. (author)

Diagnosis of posttraumatic syringomyelia with MRI

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Takahashi, Mutsumasa; Sakamoto, Yuji; Kojima, Ryutaro; Matsuno, Taiji

1988-11-01

Five cases with development of syringomyelia, following long stable period of paraplegia after spinal trauma, have been studied with a resistive MRI unit. In all five cases there was spinal cord damage at the lower dorsal or dorsolumbar vertebral levels. Symptoms and signs of syringomyelia developed after long steady period with increased paresthesia, muscle weakness and pain of the shoulders and upper extremities. MRI revealed syringomyelia involving the dorsal and cervical cord up to the C1 or C2 level. The syringomyelia cavity was hypointense on T1 weighted images, but T2 weighted images showed isointensity in 2 of 4 cases showing no flow void. At the site of the cord injury there was diffuse increased signal intensity within the cord, probably indicating myelomalacia or gliosis. Pathogenesis of post-traumatic syringomyelia was discussed from the standpoint of diagnosis and treatment.

One-Stage Correction Surgery of Scoliosis Associated With Syringomyelia: Is it Safe to Leave Untreated a Syrinx Without Neurological Symptom?

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Wang, Guodong; Sun, Jianmin; Jiang, Zhensong; Cui, Xingang; Cui, Jiangchao

2015-06-01

Retrospective study. To investigate the safety to leave a syrinx untreated in 1-stage correction surgery of scoliosis associated with syringomyelia without progressive neurological symptom. The present protocol for patients with scoliosis secondary to syringomyelia advocated to treat the syrinx first because of the increased risk in correction surgery. However, in daily life, these patients could still do lateral bending, in which spinal cord distracted albeit without any neurological symptom occurred. Twenty-one consecutive patients with scoliosis associated with syringomyelia with or without Chiari malformation underwent surgery in our department from 2003 to 2010 were included in this study. Patients with progressive neural deficits were excluded. Every patient received detailed neurological and radiologic examination before the surgery, including whole spine films, lateral-bending and fulcrum-bending films, 3-dimensional computed tomography scan, and magnetic resonance imaging. All the patients underwent 1-stage correction surgery without treatment of syrinx. During the surgery, Spinal Cord Monitor (SCM) and wake-up test were used to prevent serious neurological complications. At follow-up, patients received neurological examination and whole spine x-ray films. There were 13 male and 8 female patients. Before the surgery, 3 patients complained wasting of the intrinsic muscles of hand, 1 complained numbness of left upper extremity, and 4 complained back pain. Negative abdomen reflex occurred on 12 of 21 patients. All the patients were single major curve, including 14 thoracic curves and 7 thoracolumbar curves. The mean preoperative Cobb angle of scoliosis was 68.05±20.1 degrees, on bending films was 39.48±21.56 degrees, postoperative was 23.19±14.14 degrees, at final follow-up was 25.76±14.46 degrees. The mean flexibility was 0.452±0.158, correction ratio was 0.685±0.140. During the operation, SCM showed motor evoked potential (MEP) loss transiently in 2

MR imaging evaluation of congenital malformation of the spine

International Nuclear Information System (INIS)

Byrd, S.E.; Radkowski, M.A.; McLone, D.G.; Storrs, B.B.

1988-01-01

One hundred fifty children with congenital malformations of the spine were studied with MR imaging, US, and water-soluble myelography with CT. The malformations encountered included myelomeningoceles and Chiari II malformations, diastematomyelia, hydromyelia, arachnoid cyst, dermal sinus and dermoid, spinal lipomas and teratomas, tight filum terminale, anterior sacral meningoceles, lipomyelomeningoceles, myelocystocele, and severe scoliosis. MR imaging was the most effective modality in delineating these abnormalities. At times, real-time US and water-soluble CT myelography were required as adjuncts to MR imaging in delineating subtle spinal cord tethering, arachnoid cyst, diastematomyelia, and severe scoliosis

Volume reduction of the jugular foramina in Cavalier King Charles Spaniels with syringomyelia.

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Schmidt, Martin Jürgen; Ondreka, Nele; Sauerbrey, Maren; Volk, Holger Andreas; Rummel, Christoph; Kramer, Martin

2012-09-06

Understanding the pathogenesis of the chiari-like malformation in the Cavalier King Charles Spaniel (CKCS) is incomplete, and current hypotheses do not fully explain the development of syringomyelia (SM) in the spinal cords of affected dogs. This study investigates an unconventional pathogenetic theory for the development of cerebrospinal fluid (CSF) pressure waves in the subarachnoid space in CKCS with SM, by analogy with human diseases. In children with achondroplasia the shortening of the skull base can lead to a narrowing of the jugular foramina (JF) between the cranial base synchondroses. This in turn has been reported to cause a congestion of the major venous outflow tracts of the skull and consequently to an increase in the intracranial pressure (ICP). Amongst brachycephalic dog breeds the CKCS has been identified as having an extremely short and wide braincase. A stenosis of the JF and a consequential vascular compromise in this opening could contribute to venous hypertension, raising ICP and causing CSF jets in the spinal subarachnoid space of the CKCS. In this study, JF volumes in CKCSs with and without SM were compared to assess a possible role of this pathologic mechanism in the development of SM in this breed. Computed tomography (CT) scans of 40 CKCSs > 4 years of age were used to create three-dimensional (3D) models of the skull and the JF. Weight matched groups (7-10 kg) of 20 CKCSs with SM and 20 CKCSs without SM were compared. CKCSs without SM presented significantly larger JF -volumes (median left JF: 0.0633 cm3; median right JF: 0.0703 cm3; p stenosis of the JF and consecutive venous congestion may explain the aetiology of CSF pressure waves in the subarachnoid space, independent of cerebellar herniation, as an additional pathogenetic factor for the development of SM in this breed.

Magnetic resonance imaging of cerebrospinal fluid flow in pediatrics

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Heroux, R. [Children' s Hospital of Eastern Ontario, Magnetic Resonance Imaging Dept., Ottawa, Ontario (Canada)

2000-06-30

Magnetic Resonance Imaging of flowing protons in cerebrospinal fluid is useful for demonstrating areas of obstruction or stenosis of the ventricular system causing hydrocephalus. This is used in pediatric patients to assess the circulation of the cerebrospinal fluid. This article discusses two studies. In the first, the cerebrospinal fluid flow study helped the neurosurgeon assess the patency after a third ventriculocisternostomy. The second study evaluated the cerebrospinal fluid flowing through the foramen magnum in a patient with cerebellar tonsilar descent (Chiari malformation) and a syringomyelia. Different techniques to evaluate the flow studies are also discussed. (author)

Conquer Chiari

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Surgical treatment of type I Chiari malformation: the role of Magendie’s foramen opening e tonsils manipulation

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Claudio Henrique Fernandes Vidal

2015-02-01

Full Text Available The treatment for type 1 Chiari malformation (CM 1 is one of the most controversial topics in the neurosurgical field. The present study evaluated two of the most applied surgical techniques to treat CM 1. Method 32 patients were evaluated and divided in two groups: group 1 had 16 patients that were submitted to decompression of occipital bone and dura mater of the craniovertebral junction (CVJ; group 2 also had 16 patients and in addition to the previous procedure, they were submitted to Magendie’s foramen opening e tonsils manipulation. The comparison between the groups included neurological exam and cerebrospinal fluid flow imaging during pre and postoperative periods. Results Both techniques were equivalents in terms of neurological improvement of the patients (p > 0.05, but the group 2 had more surgical complications, with relative risk of 2.45 (CI 1.55-3.86 for adverse events. Whatever the cerebrospinal fluid flow at CVJ, the patients of the group 1 achieved greater amount of flow than the group 2 (p < 0.05 during the postoperative period. Conclusion The cranial and dural decompression of the CVJ without arachnoidal violation was the best surgical intervention for treatment of CM 1, between these two compared techniques.

Magnetic resonance imaging of the central nervous system. Comparison with X-ray CT

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Kajima, Toshio; Kagawa, Yoshihiro; Katsuta, Shizutomo.

1987-06-01

Magnetic resonance imaging (MRI) and X-ray computed tomography (X-ray CT) have been performed in 169 consecutive patients with central nervous system diseases. The findings from the two methods were compared for the capacity to defect lesions. Magnetic resonance imaging was more sensitive than or equivalent to X-ray CT in detecting lesions - especially detecting. Arnold-Chiari malformation, syringomyelia, spinal cord injury, and pituitary adenoma - in 158 patients (94 %). In six patients (10 %), lesion detection was possible only by MRI. Magnetic resonance imaging was inferior to X-ray CT in 11 patients (7 %) in detecting calcified lesions, meningioma, and cavernous hemangioma. (Namekawa, K.).

Syringomyelia coexisting with guillain-barre syndrome.

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Kim, Hee-Sang; Yun, Dong Hwan; Chon, Jinmann; Lee, Jong Eon; Park, Min Ho; Han, Yoo Jin

2013-10-01

Guillain-Barre syndrome (GBS) and syringomyelia are diseases of different entities. GBS is an acute post-infectious autoimmune disease which is mediated by autoantibodies against the myelin of peripheral nerves. Syringomyelia is a chronic disease characterized by a cavity extending longitudinally inside the spinal cord. A 67-year-old man is being hospitalized due to severe numbness and ascending weakness in all limbs. On neurological examination, the motor power of all limbs are decreased and show absence of deep tendon reflexes (DTRs). The patient is being diagnosed with GBS on the basis of the acute clinical course, nerve conduction studies of segmental demyelinating polyneuropathy, and a finding of albuminocytologic dissociation in the cerebrospinal fluid. The patient is presented with a new set of symptoms thereafter, which composes of sensory changes in the upper extremities, the urinary dysfunction including frequency and residual urine, spastic bilateral lower extremities, and increased reflexes of the knee and the biceps at follow-up examinations. The spinal magnetic resonance imaging in the sagittal section revealed a syrinx cavity between the fifth cervical and the first thoracic vertebral segment in the cord. The somatosensory evoked potential show sensory pathway defects between both the brachial plexus and the brain stem. Thus, this patient is being diagnosed with both GBS and syringomyelia. We report a case of symptomatic syringomyelia coexisting with GBS. Since the GBS is presented with a progressive muscle weakness and reduced DTRs, the muscle weakness and stiffness in the extremities suggests a concurrent syringomyelia might be easily overlooked.

Association of idiopathic hypopituitarism and syringomyelia

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Aihara, T. [Dept. of Radiology, Saitama Children`s Medical Center, Saitama (Japan); Nishikawa, M. [Dept. of Radiology, Saitama Children`s Medical Center, Saitama (Japan); Koda, N. [Div. of Endocrinology and Metabolism, Dept. of Pediatrics, Saitama Children`s Medical Center (Japan); Abe, T. [Dept. of Neurosurgery, Jikei Univ. School of Medicine, Tokyo (Japan)

1995-06-01

The magnetic resonance in an 8-year-old boy with hypopituitarism and cervical syringomyelia are presented. Magnetic resonance imaging of the brain clearly demonstrated syringomyelia in the cervical spinal cord and transection of the pituitary stalk, findings identical to those reported in the literature. Both disorders have been seen in association with a difficult labor, so we suggest that this is not a chance finding. (orig.)

Association of idiopathic hypopituitarism and syringomyelia

International Nuclear Information System (INIS)

Aihara, T.; Nishikawa, M.; Koda, N.; Abe, T.

1995-01-01

The magnetic resonance in an 8-year-old boy with hypopituitarism and cervical syringomyelia are presented. Magnetic resonance imaging of the brain clearly demonstrated syringomyelia in the cervical spinal cord and transection of the pituitary stalk, findings identical to those reported in the literature. Both disorders have been seen in association with a difficult labor, so we suggest that this is not a chance finding. (orig.)

[Arnold-Chiari malformation in Noonan syndrome and other syndromes of the RAS/MAPK pathway].

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Ejarque, Ismael; Millán-Salvador, José M; Oltra, Silvestre; Pesudo-Martínez, José V; Beneyto, Magdalena; Pérez-Aytés, Antonio

2015-05-01

Noonan syndrome (NS) and other syndromes with a similar phenotype, such as LEOPARD, cardiofaciocutaneous, Costello and Legius, are associated to mutations in genes included in the RAS/MAPK pathway (RASopathies), which is an important signalling pathway related to cell proliferation. Tonsillar descent into the upper cervical spinal canal, known as Arnold-Chiari malformation (ACM), has been reported in patients with NS and this has led some researchers to suggest that ACM could be part of the phenotypic spectrum of NS. We report two cases of NS and ACM. Case 1: 29-year-old female with Noonan phenotype who underwent surgery at the age of nine years due to pulmonary valve stenosis. At the age of 27, she presented symptomatic ACM that required surgical decompression. She presented the c.922A>G (N308D) mutation in the gene PTPN that belongs to the RAS/MAPK pathway. Case 2: a 10-year-old female with Noonan phenotype and asymptomatic ACM detected in magnetic resonance imaging of the brain. She was a carrier of the c.923A>G (N308S) mutation in gene PTPN11. Six patients with this association have been found in the literature, four with the Noonan phenotype and two with LEOPARD. Our two patients provide supplementary evidence that backs up the hypothesis by which ACM would be part of the phenotypic spectrum of NS. The small number of reported cases of patients with this association does not allow us to draw up recommendations about when and how often neuroimaging studies should be performed; a careful neurological examination, however, should be included in the anticipatory health guidelines in syndromes involving the RAS/MAPK pathway.

Clinical evidence for cervical myelopathy due to Chiari malformation and spinal stenosis in a non-randomized group of patients with the diagnosis of fibromyalgia.

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Heffez, Dan S; Ross, Ruth E; Shade-Zeldow, Yvonne; Kostas, Konstantinos; Shah, Sagar; Gottschalk, Robert; Elias, Dean A; Shepard, Alan; Leurgans, Sue E; Moore, Charity G

2004-10-01

While patients with fibromyalgia report symptoms consistent with cervical myelopathy, a detailed neurological evaluation is not routine. We sought to determine if patients with fibromyalgia manifest objective neurological signs of cervical myelopathy. Two hundred and seventy patients, 18 years and older, who carried the diagnosis of fibromyalgia but who had no previously recognized neurological disease underwent detailed clinical neurological and neuroradiological evaluation for the prevalence of objective evidence of cervical myelopathy and radiological evidence of cerebellar tonsillar herniation (Chiari 1 malformation) or cervical spinal canal stenosis. Patients were primarily women (87%), of mean age 44 years, who had been symptomatic for 8 years (standard deviation, 6.3 years). The predominant complaints were neck/back pain (95%), fatigue (95%), exertional fatigue (96%), cognitive impairment (92%), instability of gait (85%), grip weakness (83%), paresthesiae (80%), dizziness (71%) and numbness (69%). Eighty-eight percent of patients reported worsening symptoms with neck extension. The neurological examination was consistent with cervical myelopathy: upper thoracic spinothalamic sensory level (83%), hyperreflexia (64%), inversion of the radial periosteal reflex (57%), positive Romberg sign (28%), ankle clonus (25%), positive Hoffman sign (26%), impaired tandem walk (23%), dysmetria (15%) and dysdiadochokinesia (13%). MRI and contrast-enhanced CT imaging of the cervical spine revealed stenosis. The mean antero-posterior (AP) spinal canal diameter at C2/3, C3/4, C4/5, C5/6, C6/7 and C7/T1 was 13.5 mm, 11.8 mm, 11.5 mm, 10.4 mm, 11.3 mm and 14.5 mm respectively, (CT images). In 46% of patients, the AP spinal diameter at C5/6 measured 10 mm, or less, with the neck positioned in mild extension, i.e., clinically significant spinal canal stenosis. MRI of the brain revealed tonsillar ectopia >5 mm in 20% of patients (mean=7.1+/-1.8 mm), i.e., Chiari 1 malformation

Volume reduction of the jugular foramina in Cavalier King Charles Spaniels with syringomyelia

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Schmidt Martin

2012-09-01

Full Text Available Abstract Background Understanding the pathogenesis of the chiari-like malformation in the Cavalier King Charles Spaniel (CKCS is incomplete, and current hypotheses do not fully explain the development of syringomyelia (SM in the spinal cords of affected dogs. This study investigates an unconventional pathogenetic theory for the development of cerebrospinal fluid (CSF pressure waves in the subarachnoid space in CKCS with SM, by analogy with human diseases. In children with achondroplasia the shortening of the skull base can lead to a narrowing of the jugular foramina (JF between the cranial base synchondroses. This in turn has been reported to cause a congestion of the major venous outflow tracts of the skull and consequently to an increase in the intracranial pressure (ICP. Amongst brachycephalic dog breeds the CKCS has been identified as having an extremely short and wide braincase. A stenosis of the JF and a consequential vascular compromise in this opening could contribute to venous hypertension, raising ICP and causing CSF jets in the spinal subarachnoid space of the CKCS. In this study, JF volumes in CKCSs with and without SM were compared to assess a possible role of this pathologic mechanism in the development of SM in this breed. Results Computed tomography (CT scans of 40 CKCSs > 4 years of age were used to create three-dimensional (3D models of the skull and the JF. Weight matched groups (7–10 kg of 20 CKCSs with SM and 20 CKCSs without SM were compared. CKCSs without SM presented significantly larger JF -volumes (median left JF: 0.0633 cm3; median right JF: 0.0703 cm3; p 3; median right JF: 0.0434 cm3; p Conclusion A stenosis of the JF and consecutive venous congestion may explain the aetiology of CSF pressure waves in the subarachnoid space, independent of cerebellar herniation, as an additional pathogenetic factor for the development of SM in this breed.

An Unusual Case of Post-Traumatic Headache Complicated by Intracranial Hypotension

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Sara Siavoshi

2016-12-01

Full Text Available We present a case of post-traumatic headache complicated by intracranial hypotension resulting in an acquired Chiari malformation and myelopathy with syringomyelia. This constellation of findings suggest a possible series of events that started with a traumatic cerebral spinal fluid (CSF leak, followed by descent of the cerebellar tonsils and disruption of CSF circulation that caused spinal cord swelling and syrinx. This unusual presentation of post-traumatic headache highlights the varying presentations and the potential sequelae of intracranial hypotension. In addition, the delayed onset of upper motor neuron symptoms along with initially normal head computerized tomography scan (CT findings, beg the question of whether or not a post-traumatic headache warrants earlier magnetic resonance imaging (MRI.

Syringomyelia presenting with unilateral optic neuropathy: a case report.

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Ngoo, Qi Zhe; Tai, Evelyn Li Min; Wan Hitam, Wan Hazabbah

2017-01-01

In this case report, we present two cases of syringomyelia with optic neuropathy. In Case 1, a 36-year-old Malay lady presented to our clinic with acute onset of blurring of vision in her left eye that she experienced since past 1 month. She was diagnosed with syringomyelia 12 years ago and was on conservative management. Her visual acuity was 6/6 in the right eye and counting fingers at 1 m in the left. There was a positive relative afferent pupillary defect in her left eye. Optic nerve functions of her left eye were reduced. Visual field showed a left inferior field defect. Her extraocular muscle movements were full. Magnetic resonance imaging of the brain and spine showed syringomyelia at the level of C2-C6 and T2-T9. Both of her optic nerves were normal. Her condition improved with intravenous and oral corticosteroids. In Case 2, a 44-year-old Malay lady presented to our clinic with a progressive central scotoma in her right eye that she experienced since past 1 month. She had previous history of recurrent episodes of weakness in both of her lower limbs from past 8 months. Visual acuity in her right and left eye was 6/9 and 6/6, respectively. The relative afferent pupillary defect in her right eye was positive. Optic nerve functions of her right eye were affected. Visual field showed a central scotoma in her right eye. Her extraocular muscle movements were full. Fundoscopy of her right eye showed a pale optic disc. Her left eye fundus was normal. Magnetic resonance imaging of the brain and spine showed syringomyelia at T3-T6. Both of her optic nerves were normal. A diagnosis of syringomyelia with right optic atrophy was performed. Her condition improved with intravenous and oral corticosteroids. Optic neuropathy is a rare neuro-ophthalmic manifestation in patients with syringomyelia. Prompt diagnosis and timely management are essential to avoid a poor visual outcome. Intravenous corticosteroids are beneficial in the treatment of early optic neuropathy in

Giant posterior fossa arachnoid cyst causing tonsillar herniation and cervical syringomyelia

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Vijay P Joshi

2013-01-01

Full Text Available Acquired cerebellar tonsillar herniation and syringomyelia associated with posterior fossa mass lesions is an exception rather than the rule. In the present article, we describe the neuroimaging findings in a case of 28-year-old female patient presented with a history of paraesthesia involving right upper limb of 8-month duration. Magnetic resonance imaging showed a giant retrocerebellar arachnoid causing tonsillar herniation with cervical syringomyelia. The findings in the present case supports that the one of the primary mechanism for the development of syringomyelia may be the obstruction to the flow of cerebrospinal fluid causing alterations in the passage of extracellular fluid in the spinal cord and leading to syringomyelia.

Syringomyelia presenting with unilateral optic neuropathy: a case report

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Ngoo QZ

2017-03-01

Full Text Available Qi Zhe Ngoo, Evelyn Li Min Tai, Wan Hazabbah Wan Hitam Department of Ophthalmology, School of Medical Sciences, Universiti Sains Malaysia, Kubang Kerian, Malaysia Purpose: In this case report, we present two cases of syringomyelia with optic neuropathy.Findings: In Case 1, a 36-year-old Malay lady presented to our clinic with acute onset of blurring of vision in her left eye that she experienced since past 1 month. She was diagnosed with syringomyelia 12 years ago and was on conservative management. Her visual acuity was 6/6 in the right eye and counting fingers at 1 m in the left. There was a positive relative afferent pupillary defect in her left eye. Optic nerve functions of her left eye were reduced. Visual field showed a left inferior field defect. Her extraocular muscle movements were full. Magnetic resonance imaging of the brain and spine showed syringomyelia at the level of C2–C6 and T2–T9. Both of her optic nerves were normal. Her condition improved with intravenous and oral corticosteroids. In Case 2, a 44-year-old Malay lady presented to our clinic with a progressive central scotoma in her right eye that she experienced since past 1 month. She had previous history of recurrent episodes of weakness in both of her lower limbs from past 8 months. Visual acuity in her right and left eye was 6/9 and 6/6, respectively. The relative afferent pupillary defect in her right eye was positive. Optic nerve functions of her right eye were affected. Visual field showed a central scotoma in her right eye. Her extraocular muscle movements were full. Fundoscopy of her right eye showed a pale optic disc. Her left eye fundus was normal. Magnetic resonance imaging of the brain and spine showed syringomyelia at T3–T6. Both of her optic nerves were normal. A diagnosis of syringomyelia with right optic atrophy was performed. Her condition improved with intravenous and oral corticosteroids.Conclusion: Optic neuropathy is a rare neuro

Sleep-Related Breathing Disorders in Chiari Malformation Type 1: A Prospective Study of 90 Patients.

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Ferré, Álex; Poca, Maria A; de la Calzada, Maria D; Moncho, Dulce; Romero, Odile; Sampol, Gabriel; Sahuquillo, Juan

2017-06-01

The aim of the present study is to describe the prevalence of sleep disorders in a large group of patients with Chiari malformation type 1 (CM-1) and determine the presence of risk factors associated with these abnormalities. Prospective study with consecutive patient selection. We included 90 adult patients with CM-1, defined by the presence of a cerebellar tonsillar descent (TD) ≥3 mm. Clinical, neuroradiological studies, and nocturnal polysomnography (PSG) was carried out. In addition, patients were also subclassified into 2 CM subtypes: CM-1, with the obex above the foramen magnum (FM) and CM-1.5, in which along with a TD ≥3 mm, the obex was located below the FM. We observed a high prevalence (50%) of sleep-related breathing disorders (SRBDs) with predominant hypopnea. Only six patients showed a central apnea index of ≥5. Hypoventilation was observed in only three patients. SRBD severity was associated with male sex, older age, excess weight, and the presence of hydrocephalus. No differences in clinical or PSG parameters were found when comparing CM subtypes (CM-1 and CM-1.5). Sleep architecture study showed decreased sleep efficiency with an increase in arousal and waking after sleep onset. The presence of SRBDs was found to be associated with poorer sleep architecture parameters. This study confirms a high prevalence of SRBDs in patients with CM-1 and CM-1.5, with a predominant obstructive component. Nocturnal PSG recordings should be systematically conducted in these patients, especially those who are male, older, or overweight or those who present hydrocephalus. © Sleep Research Society 2017. Published by Oxford University Press on behalf of the Sleep Research Society. All rights reserved. For permissions, please e-mail journals.permissions@oup.com.

Craniometric Analysis of the Hindbrain and Craniocervical Junction of Chihuahua, Affenpinscher and Cavalier King Charles Spaniel Dogs With and Without Syringomyelia Secondary to Chiari-Like Malformation.

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Knowler, Susan P; Kiviranta, Anna-Mariam; McFadyen, Angus K; Jokinen, Tarja S; La Ragione, Roberto M; Rusbridge, Clare

2017-01-01

To characterize and compare the phenotypic variables of the hindbrain and craniocervical junction associated with syringomyelia (SM) in the Chihuahua, Affenpinscher and Cavalier King Charles Spaniel (CKCS). Analysis of 273 T1-weighted mid-sagittal DICOM sequences of the hindbrain and craniocervical junction from 99 Chihuahuas, 42 Affenpinschers and 132 CKCSs. The study compared 22 morphometric features (11 lines, eight angles and three ratios) of dogs with and without SM using refined techniques based on previous studies of the Griffon Bruxellois (GB) using Discriminant Function Analysis and ANOVA with post-hoc corrections. The analysis identified 14/22 significant traits for SM in the three dog breeds, five of which were identical to those reported for the GB and suggest inclusion of a common aetiology. One ratio, caudal fossa height to the length of the skull base extended to an imaginary point of alignment between the atlas and supraoccipital bones, was common to all three breeds (p values 0.029 to Chihuahua had a smaller angle between the dens, atlas and basioccipital bone (p value < 0.001); Affenpinschers had a smaller distance from atlas to dens (p value 0.009); CKCS had a shorter distance between the spheno-occipital synchondrosis and atlas (p value 0.007). The selected morphometries successfully characterised conformational changes in the brain and craniocervical junction that might form the basis of a diagnostic tool for all breeds. The severity of SM involved a spectrum of abnormalities, incurred by changes in both angulation and size that could alter neural parenchyma compliance and/or impede cerebrospinal fluid channels.

Unusual Association Between Spontaneous Lateral Sphenoid Encephalocele and Chiari Malformation Type I: Endoscopic Repair Through a Transpterygoid Approach.

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Starnoni, Daniele; Daniel, Roy Thomas; George, Mercy; Messerer, Mahmoud

2017-01-01

Spontaneous meningoencephaloceles of the lateral sphenoid sinus are rare entities, and their peculiar location represents a surgical challenge due to the importance of a wide exposure and skull base reconstruction. They are thought to arise from the congenital base defect of the lateral sphenoid or in some cases have been postulated to represent a rare manifestation of altered cerebrospinal fluid (CSF) dynamics. We report the first case in the literature of a Chiari malformation type I (CMI) and a lateral sphenoid encephalocele, revising the theoretic etiology and surgical technique of endoscopic repair. A 50-year-old woman with a surgical history of symptomatic CMI presented with episodes of spontaneous CSF rhinorrhea. Radiologic investigations revealed a left mesial temporal encephalocele herniating into the lateral recess of the sphenoid sinus and radiologic features of altered CSF dynamics, which may have played an etiologic role. An endoscopic transpterygoid excision of the encephalocele and multilayer skull base repair were performed. The association of spontaneous lateral sphenoid encephaloceles with CMI is distinctly unusual. Predisposing factors and disruption of CSF dynamics may play a major role in the development of these rare complications in patients with CMI. Because of their distinct location, transethmoid or transpterygoid endoscopic approaches represent an excellent surgical technique to treat these lesions thanks to their wide and direct visualization of the entire skull base defect following the encephalocele excision, allowing an adequate multilayer repair and lateral sphenoid recess occlusion. Copyright © 2016 Elsevier Inc. All rights reserved.

Sleep apnea and REM sleep behavior disorder in patients with Chiari malformations Apnéia do sono e distúrbio do comportamento da fase do sono com REM em pacientes com malformações de Chiari

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Paulo Sérgio A. Henriques-Filho

2008-06-01

Full Text Available BACKGROUND: Chiari malformations (CM may result in the appearance of REM sleep behavior disorder (RBD and sleep apnea syndrome (SAS that can be considered markers of brain stem dysfunction. PURPOSE: To evaluate the frequency of RBD and SAS in patients with CM type I and II. METHOD: Were evaluated 103 patients with CM by means of full night polysomnography. Were scoring different sleep stages, frequency of abnormal movements (through video monitoring and abnormal respiratory events. RESULTS: Of the 103 patients, 36 showed CM type I and 67 CM type II. Episodes of RBD were observed in 23 patients. Abnormal apnea-hypopnea index (AHI was observed in 65 patients. CONCLUSION: The high rate of RBD suggests that this parassomnia and the increased frequency of central sleep apnea episodes, may be considered as a marker of progressive brain stem dysfunction.INTRODUÇÃO: Malformações de Chiari (MC podem gerar o aparecimento de distúrbio comportamental da fase do sono com REM (DCR e síndrome da apnéia do sono (SAS, sugerindo a ocorrência de disfunção do tronco cerebral. OBJETIVO: Avaliar a freqüência de DCR e SAS em pacientes com MC I ou II. MÉTODO: Utilizou-se a polissonografia de noite inteira para a avaliação de 103 pacientes. Classificaram-se as diferentes fases do sono e analisou-se a freqüência de movimentos anormais (monitorada por vídeo e de eventos respiratórios anormais. RESULTADOS: Dos 103 pacientes analisados, 36 eram portadores de MC I e 67 de MC II. Episódios de DCR foram observados em 23 pacientes. O índice de apnéia/hipopnéia foi considerado anormal em 65 pacientes. CONCLUSÃO: A alta freqüência de DCR e o aumento da freqüência de episódios de apnéia central do sono podem ser considerados manifestação de disfunção progressiva do tronco cerebral.

Idiopathic Syringomyelia in a Military Helicopter Pilot.

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Schiemer, Anthony

2017-10-01

A syrinx is a fluid-filled cavity within the spinal cord. They can lead to a variety of symptoms, including limb weakness and back pain. Incidental finding of syringomyelia provides a challenge for clinicians due to the wide variety of possible symptoms. In military aviation, neurological findings in pilots can result in extensive investigation that can lead to potentially invasive management. Conversely, the potential for chronic progression of a spinal syrinx and subsequent neurological deterioration makes early identification critical. Ultimately, the discovery of a lesion may have implications for flying status and operational capability. A 25-yr-old man working as a navy Seahawk helicopter pilot presented with episodes of right arm paraesthesia and pain between the scapulae. On at least one occasion, these symptoms woke him at night. Upon magnetic resonance imaging, dilatation of the central canal in a syrinx-like pattern in the lower cervical region was noted. Neurology review suggested the finding was persistent and unlikely to be responsible for his symptoms. No surgical input was recommended. His symptoms were attributed to mild cervical spondylosis, which resolved with ongoing physiotherapy, and he was returned to flying status. This case highlights several issues involved with the incidental finding of a syringomyelia. Surgical intervention has been known to worsen symptoms. Conversely, studies have identified minimal radiological progression in cases of idiopathic syringomyelia, with fewer individuals displaying neurological deterioration. For aircrew, potentially unnecessary neurosurgical intervention poses risks to a flying career and overall operational capability.Schiemer A. Idiopathic syringomyelia in a military helicopter pilot. Aerosp Med Hum Perform. 2017; 88(10):962-965.

Budd-Chiari syndrome complicating hydatid liver disease

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Robotti, G.C.; Meister, F.; Schroeder, R.; Bern Univ.; Bern Univ.

1985-01-01

In two female patients a diagnosis of Budd-Chiari syndrome secondary to hepatic echinococcosis was established by CT. One patient developed acute Budd-Chiari syndrome secondary to E. granulosus lesions of the liver. The second patient presented with a picture of chronic Budd-Chiari syndrome secondary to alveolar echinococcosis. CT findings of Budd-Chiari syndrome included ascites, low density areas in the liver parenchyma, hypertrophy of the caudate lobe, non visualisation of the hepatic veins, occlusion of the retrohepatic inferior vena cava and enlarged retroperitoneal veins. (orig.) [de

Craniometric Analysis of the Hindbrain and Craniocervical Junction of Chihuahua, Affenpinscher and Cavalier King Charles Spaniel Dogs With and Without Syringomyelia Secondary to Chiari-Like Malformation.

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Susan P Knowler

Full Text Available To characterize and compare the phenotypic variables of the hindbrain and craniocervical junction associated with syringomyelia (SM in the Chihuahua, Affenpinscher and Cavalier King Charles Spaniel (CKCS.Analysis of 273 T1-weighted mid-sagittal DICOM sequences of the hindbrain and craniocervical junction from 99 Chihuahuas, 42 Affenpinschers and 132 CKCSs. The study compared 22 morphometric features (11 lines, eight angles and three ratios of dogs with and without SM using refined techniques based on previous studies of the Griffon Bruxellois (GB using Discriminant Function Analysis and ANOVA with post-hoc corrections.The analysis identified 14/22 significant traits for SM in the three dog breeds, five of which were identical to those reported for the GB and suggest inclusion of a common aetiology. One ratio, caudal fossa height to the length of the skull base extended to an imaginary point of alignment between the atlas and supraoccipital bones, was common to all three breeds (p values 0.029 to <0.001. Associated with SM were a reduced occipital crest and two acute changes in angulation i 'sphenoid flexure' at the spheno-occipital synchondrosis ii 'cervical flexure' at the foramen magnum allied with medulla oblongata elevation. Comparing dogs with and without SM, each breed had a unique trait: Chihuahua had a smaller angle between the dens, atlas and basioccipital bone (p value < 0.001; Affenpinschers had a smaller distance from atlas to dens (p value 0.009; CKCS had a shorter distance between the spheno-occipital synchondrosis and atlas (p value 0.007.The selected morphometries successfully characterised conformational changes in the brain and craniocervical junction that might form the basis of a diagnostic tool for all breeds. The severity of SM involved a spectrum of abnormalities, incurred by changes in both angulation and size that could alter neural parenchyma compliance and/or impede cerebrospinal fluid channels.

Imaging of Budd-Chiari syndrome

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Buckley, O.; O' Brien, J.; Snow, A.; Stunell, H.; Torreggiani, W.C.; Lyburn, I.; Munk, P.L.

2007-01-01

Budd-Chiari syndrome occurs when venous outflow from the liver is obstructed. The obstruction may occur at any point from the hepatic venules to the left atrium. The syndrome most often occurs in patients with underlying thrombotic disorders such as polycythemia rubra vera, paroxysmal nocturnal hemoglobinuria and pregnancy. It may also occur secondary to a variety of tumours, chronic inflammatory diseases and infections. Imaging plays an important role both in establishing the diagnosis of Budd-Chiari syndrome as well as evaluating for underlying causes and complications such as portal hypertension. In this review article, we discuss the role of modern imaging in the evaluation of Budd-Chiari syndrome. (orig.)

Imaging of Budd-Chiari syndrome

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Buckley, O.; O' Brien, J.; Snow, A.; Stunell, H.; Torreggiani, W.C. [Adelaide and Meath Hospital, Incorporating the National Children' s Hospital (AMNCH), Department of Radiology, Dublin 24 (Ireland); Lyburn, I. [Cheltenham Hospital, Department of Radiology, Cheltenham (United Kingdom); Munk, P.L. [Vancouver General Hospital, Department of Radiology, Vancouver (Canada)

2007-08-15

Budd-Chiari syndrome occurs when venous outflow from the liver is obstructed. The obstruction may occur at any point from the hepatic venules to the left atrium. The syndrome most often occurs in patients with underlying thrombotic disorders such as polycythemia rubra vera, paroxysmal nocturnal hemoglobinuria and pregnancy. It may also occur secondary to a variety of tumours, chronic inflammatory diseases and infections. Imaging plays an important role both in establishing the diagnosis of Budd-Chiari syndrome as well as evaluating for underlying causes and complications such as portal hypertension. In this review article, we discuss the role of modern imaging in the evaluation of Budd-Chiari syndrome. (orig.)

Usefulness of MRI in the diagnosis of atlanto-axial dislocation

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Nakamura, Ko; Fukui, Keiji; Sadamoto, Kazuhiko; Miki, Hitoshi; Niida, Akira; Sakaki, Saburo.

1988-08-01

We studied 14 cases of atlanto-axial dislocation (AAD) by means of a 0.5 Tesla superconductive magnetic resonance imaging (MRI) system using saturation recovery sequences (Tr: 500 msec, Te: 20 - 30 msec) with a 5 - 10 mm slice thickness, and directly evaluated the degree of the spinal-cord compression in flexion, neutral, and extension of the head on the midsagittal images. The patients ranged from 11 to 76 years of age, and 8 of the 14 were male. In all cases we could demonstrate the cord compression in various degrees by either the odontoid process or the posterior arch of the atlas. The spinal cords were compressed from ventral in flexion in 6 cases, from dorsal in flexion in 2 cases, from dorsal in extension in 2 cases, and from ventral in both flexion and extension in 2 cases each. In addition, syringomyelia could be revealed by MRI in combination with AAD in 2 cases. MRI is useful in revealing the direction and degree of spinal-cord compression in patients with AAD, and in evaluating combined diseases such as syringomyelia and Arnold-Chiari malformations.

Exercise Concepts for Individuals with Syringomyelia

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... Center Research Great Expectations Post navigation ← Previous Next → Exercise Concepts for Individuals with Syringomyelia Posted on November ... related duties? 3. Do you have questions about exercise? Do you exercise regularly? Are you involved in ...

Congenital Spondylolytic Spondylolisthesis of C2 Vertebra Associated With Atlanto-Axial Dislocation, Chiari Type I Malformation, and Anomalous Vertebral Artery: Case Report With Review Literature.

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Sardhara, Jayesh; Pavaman, Sindgikar; Das, Kuntal; Srivastava, Arun; Mehrotra, Anant; Behari, Sanjay

2016-11-01

Congenital spondylolytic spondylolisthesis of C2 vertebra resulting from deficient posterior element of the axis is rarely described in the literature. We describe a unique case of agenesis of posterior elements of C2 with craniovertebral junction anomalies consisting of osseous, vascular, and soft tissue anomalies. A 26-year-old man presented with symptoms of upper cervical myelopathy of 12 months' duration. A computed tomography scan of the cervical spine including the craniovertebral junction revealed spondylolisthesis of C2 over C3, atlantoaxial dislocation, occipitalization of the atlas, hypoplasia of the odontoid, and cleft posterior C1 arch. Additionally, the axis vertebra was found devoid of its posterior elements except bilaterally rudimentary pedicles. Magnetic resonance imaging revealed tonsilar herniation, suggesting associated Chiari type I malformation. CT angiogram of the vertebral arteries displayed persistent bilateral first intersegmental arteries crossing the posterior aspect of the C1/2 facet joint. This patient underwent foramen magnum decompression, C3 laminectomy with occipito-C3/C4 posterior fusion using screw and rod to maintain the cervical alignment and stability. We report this rare constellation of congenital craniovertebral junction anomaly and review the relevant literature. Copyright © 2016 Elsevier Inc. All rights reserved.

Budd-Chiari syndrome secondary to toxic pyrrolizidine alkaloid exposure.

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Wu, Janet S W; Poon, W T; Ma, C K; Chen, M L; Pang, K S; Mak, Tony W L; Chan, H B

2013-12-01

In this report, we describe a case of pyrrolizidine alkaloid-related Budd-Chiari syndrome in Hong Kong. A 10-month-old boy presented with ascites, right pleural effusion, and hepatomegaly after consumption of herbal drinks for 3 months. His clinical (including imaging) features were compatible with Budd-Chiari syndrome. Budd-Chiari syndrome is a rare disease entity in paediatric patients. In our case, extensive workup performed to look for the underlying cause of Budd-Chiari syndrome was unrevealing, except for toxic pyrrolizidine alkaloid exposure in his herbal drinks.

Choroid Plexus in the Central Canal of the Spinal Cord Causing Recurrent Syringomyelia.

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Shtaya, Anan; Sadek, Ahmed-Ramadan; Nicoll, James A R; Nader-Sepahi, Ali

2018-03-01

Syringomyelia is a fluid-filled cavitation within the substance of the spinal cord. This condition usually follows a primary pathology that disrupts the normal cerebrospinal fluid circulation or disturbs the microcirculation and cytoarchitecture of the spinal cord parenchyma. However, an etiology of recurrent syringomyelia resulting from an ectopic choroid plexus (CP) has not been discussed. Ectopic CP rests may be found within the central nervous system. Although there has been a single report, describing ectopic intramedullary spinal cord CP, to our knowledge, extra-cranial nonmalignant CP in the central canal of the spinal cord has not been reported. We report CP in the central canal of the spinal cord in a 23-year-old male patient who had developmental delay and diabetes mellitus type I who presented with dissociated sensory changes and muscle wastage predominantly on the right upper and lower limbs. Magnetic resonance imaging demonstrated a multiloculated spinal cord syringomyelia stretching from cervical (C3) to the conus medullaris causing recurrent neurologic deficits. A biopsy of the central canal spinal cord lesion revealed CP. Decompression and syringosubarachnoid shunt insertion stabilized the patient's neurology. Our illustrative case reveals the presence of CP in the central canal of the spinal cord that may suggest a role in the etiology of recurrent syringomyelia. Although management poses a challenge to neurosurgeons, prompt decompression and shunting of the syringomyelia remains a favorable approach with acceptable outcomes. Further investigation into the pathophysiology of central canal CP ectopic causing recurrent syringomyelia and its correlation with spinal cord development may help future treatments. Copyright © 2017 Elsevier Inc. All rights reserved.

Chiari malformation Type I surgery in pediatric patients. Part 1: validation of an ICD-9-CM code search algorithm.

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Ladner, Travis R; Greenberg, Jacob K; Guerrero, Nicole; Olsen, Margaret A; Shannon, Chevis N; Yarbrough, Chester K; Piccirillo, Jay F; Anderson, Richard C E; Feldstein, Neil A; Wellons, John C; Smyth, Matthew D; Park, Tae Sung; Limbrick, David D

2016-05-01

OBJECTIVE Administrative billing data may facilitate large-scale assessments of treatment outcomes for pediatric Chiari malformation Type I (CM-I). Validated International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) code algorithms for identifying CM-I surgery are critical prerequisites for such studies but are currently only available for adults. The objective of this study was to validate two ICD-9-CM code algorithms using hospital billing data to identify pediatric patients undergoing CM-I decompression surgery. METHODS The authors retrospectively analyzed the validity of two ICD-9-CM code algorithms for identifying pediatric CM-I decompression surgery performed at 3 academic medical centers between 2001 and 2013. Algorithm 1 included any discharge diagnosis code of 348.4 (CM-I), as well as a procedure code of 01.24 (cranial decompression) or 03.09 (spinal decompression or laminectomy). Algorithm 2 restricted this group to the subset of patients with a primary discharge diagnosis of 348.4. The positive predictive value (PPV) and sensitivity of each algorithm were calculated. RESULTS Among 625 first-time admissions identified by Algorithm 1, the overall PPV for CM-I decompression was 92%. Among the 581 admissions identified by Algorithm 2, the PPV was 97%. The PPV for Algorithm 1 was lower in one center (84%) compared with the other centers (93%-94%), whereas the PPV of Algorithm 2 remained high (96%-98%) across all subgroups. The sensitivity of Algorithms 1 (91%) and 2 (89%) was very good and remained so across subgroups (82%-97%). CONCLUSIONS An ICD-9-CM algorithm requiring a primary diagnosis of CM-I has excellent PPV and very good sensitivity for identifying CM-I decompression surgery in pediatric patients. These results establish a basis for utilizing administrative billing data to assess pediatric CM-I treatment outcomes.

Pan, Syrinx and syringomyelia.

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Palacios-Sánchez, Leonardo; Botero-Meneses, Juan Sebastián; Vélez-Flórez, María Camila

2017-12-01

Many myths and legends have had a deep influence on modern language, and on modern medical vernacular. The terms "syrinx" and "panic"are two of the most characteristic examples and their use in neurology and other specialties is well known. This article reviews the history of these words in Greek mythology and their use in modern medicine. It is known by very few that clinical symptoms or conditions, such as syringomyelia and panic attacks, have a mythological origin in their definition and naming.

Symptomatic arrhythmias due to syringomyelia-induced severe autonomic dysfunction.

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Riedlbauchová, Lucie; Nedělka, Tomáš; Schlenker, Jakub

2014-10-01

Syringomyelia is characterized by cavity formation in the spinal cord, most often at C2-Th9 level. Clinical manifestation reflects extent and localization of the spinal cord injury. 20-year old woman was admitted for recurrent rest-related presyncopes with sudden manifestation. Paroxysms of sinus bradycardia with SA and AV blocks were repeatedly documented during symptoms. There was normal echocardiographic finding, (para) infectious etiology was not proved. Character of the ECG findings raised suspicion on neurogenic cause. Autonomic nervous system testing demonstrated abnormalities reflecting predominant sympathetic dysfunction. Suspicion on incipient myelopathy was subsequently confirmed by MRI, which discovered syringomyelia at Th5 level as the only pathology. A 52-year old man with hypotrophic quadruparesis resulting from perinatal brain injury was sent for 2-years lasting symptoms (sudden palpitation, sweating, muscle tightness, shaking) with progressive worsening. Symptoms occurred in association with sudden increase of sinus rhythm rate and blood pressure that were provoked by minimal physical activity. Presence of significant autonomic dysregulation with baroreflex hyperreactivity in orthostatic test and symptomatic postural orthostatic tachycardia with verticalization-associated hypertension were proved. MRI revealed syringomyelia at C7 and Th7 level affecting sympathetic centers at these levels. Sympathetic fibers dysfunction at C-Th spinal level may cause significant autonomic dysfunction with arrhythmic manifestation.

Risk factors for pressure sores in adult patients with myelomeningocele – a questionnaire-based study

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Frøslie Kathrine

2006-12-01

Full Text Available Abstract Background Myelomeningocele (MMC is a part of a complex neural tube defect and a disorder of the cerebrospinal fluid system. Pressure sores are a frequent complication for patients with MMC. Little is known about the risk factors for pressure sores in adults with MMC. The aim of this study was to investigate an association between the presence of pressure sores and other patient characteristics, in order to develop an improved strategy for the management of sores. Methods A structured questionnaire regarding sores, medical condition, function and living factors was designed and sent to the 193 patients with MMC registered in the year 2003 at TRS, a National Centre for Rare Disorders in Norway. Results Out of 193 total, 87 patients participated and 71 patients (82% reported sores; 26 (30% at the time of the interview and 45 (52% during the last 5 years. Sores were mostly localized on toes and feet and occurred exclusively in regions with reduced or missing sensibility. A significant association was found between sores and memory deficit (p = 0.02, Arnold Chiari malformation (p = 0.02 and a record of previous sores (p = 0.004. Sores were not significantly associated with hydrocephalus, syringomyelia, nutrition, body mass index, smoking, physical activity, employment or living together with other persons. Some patients (18, 21% reported skin inspection by others and the remainder relied on self-inspection. Conclusion Patients with sensory deficit, memory problems, and Arnold Chiari malformation had a higher risk of having pressure sores. This patient group needs improved skin inspection routines and sore treatment.

Risk factors for pressure sores in adult patients with myelomeningocele – a questionnaire-based study

Science.gov (United States)

Plaum, Pål-Erik; Riemer, Gunnar; Frøslie, Kathrine Frey

2006-01-01

Background Myelomeningocele (MMC) is a part of a complex neural tube defect and a disorder of the cerebrospinal fluid system. Pressure sores are a frequent complication for patients with MMC. Little is known about the risk factors for pressure sores in adults with MMC. The aim of this study was to investigate an association between the presence of pressure sores and other patient characteristics, in order to develop an improved strategy for the management of sores. Methods A structured questionnaire regarding sores, medical condition, function and living factors was designed and sent to the 193 patients with MMC registered in the year 2003 at TRS, a National Centre for Rare Disorders in Norway. Results Out of 193 total, 87 patients participated and 71 patients (82%) reported sores; 26 (30%) at the time of the interview and 45 (52%) during the last 5 years. Sores were mostly localized on toes and feet and occurred exclusively in regions with reduced or missing sensibility. A significant association was found between sores and memory deficit (p = 0.02), Arnold Chiari malformation (p = 0.02) and a record of previous sores (p = 0.004). Sores were not significantly associated with hydrocephalus, syringomyelia, nutrition, body mass index, smoking, physical activity, employment or living together with other persons. Some patients (18, 21%) reported skin inspection by others and the remainder relied on self-inspection. Conclusion Patients with sensory deficit, memory problems, and Arnold Chiari malformation had a higher risk of having pressure sores. This patient group needs improved skin inspection routines and sore treatment. PMID:17196099

Risk factors for pressure sores in adult patients with myelomeningocele--a questionnaire-based study.

Science.gov (United States)

Plaum, Pål-Erik; Riemer, Gunnar; Frøslie, Kathrine Frey

2006-12-29

Myelomeningocele (MMC) is a part of a complex neural tube defect and a disorder of the cerebrospinal fluid system. Pressure sores are a frequent complication for patients with MMC. Little is known about the risk factors for pressure sores in adults with MMC. The aim of this study was to investigate an association between the presence of pressure sores and other patient characteristics, in order to develop an improved strategy for the management of sores. A structured questionnaire regarding sores, medical condition, function and living factors was designed and sent to the 193 patients with MMC registered in the year 2003 at TRS, a National Centre for Rare Disorders in Norway. Out of 193 total, 87 patients participated and 71 patients (82%) reported sores; 26 (30%) at the time of the interview and 45 (52%) during the last 5 years. Sores were mostly localized on toes and feet and occurred exclusively in regions with reduced or missing sensibility. A significant association was found between sores and memory deficit (p = 0.02), Arnold Chiari malformation (p = 0.02) and a record of previous sores (p = 0.004). Sores were not significantly associated with hydrocephalus, syringomyelia, nutrition, body mass index, smoking, physical activity, employment or living together with other persons. Some patients (18, 21%) reported skin inspection by others and the remainder relied on self-inspection. Patients with sensory deficit, memory problems, and Arnold Chiari malformation had a higher risk of having pressure sores. This patient group needs improved skin inspection routines and sore treatment.

Multizamide myelography and computed tomography in malformations of the cranio-vertebral junction and of the spine

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Gahbauer, H.; Rommel, T.; Banniza von Bazan, U.

1982-11-01

The Arnold-Chiari syndrome and the dysrhaphic disturbances are highly complex pathologic pictures. Often, the clinical findings and the variety of the basic pathologic disturbances are confusing. However, it is not always possible to detect all aspects of the disturbance in one conventional myelographic examination. In primary metrizamide computed tomography the applied KM dosages are considerably lower. This method facilitates the detailed imaging of osseous malformations, of associated spinal and paraspinal masses and their relation to the spinal cord.

Magnetic resonance imaging of post-traumatic syringomyelia and its surgical treatment

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Isu, Toyohiko; Iwasaki, Yoshinobu; Nunomura, Mitsuru; Akino, Minoru; Koyanagi, Izumi; Abe, Hiroshi [Hokkaido Univ., Sapporo (Japan). School of Medicine; Saito, Hisatoshi

1991-01-01

The purpose of this study was to review magnetic resonance imaging (MRI) scans of post-traumatic syringomyelia and to assess the outcome of surgical treatment. The subjects were 16 patients (13 men and 3 women) whose ages ranged from 22 to 69 years, with a mean of 42 years. Nine patients had delayed neurologic symptoms 2 years and 2 months through 32 years after spinal injuries. The site of initial spinal cord injury was the lower cervical region in 4 patients, the thoracic region in 8, and the upper lumbar region in 4. In all patients, post-traumatic syringomyelia was easy to diagnose on MRI. MRI showed the syrinx extending superiorly and/or inferiorly from the area of old trauma, sometimes extending to the medulla oblongata. In the cervical cord and the upper thoracic cord, the syrinx was unilaterally or bilaterally situated in the postero-lateral portion. Below the middle thoracic cord, the syrinx was centrally located. Surgery was performed in 6 patients. At an average follow up of 2 years and 9 months, both pain and numbness were relieved in all patients (100%) and neurologic symptoms improved in 5 patients (83%). Post-traumatic syringomyelia should be considered in all patients having delayed onset or aggravation of neurologic symptoms after spinal injury. MRI appears promising for the early diagnosis of post-traumatic syringomyelia that can be treated favorably by surgical procedures. (N.K.).

Magnetic resonance imaging of post-traumatic syringomyelia and its surgical treatment

International Nuclear Information System (INIS)

Isu, Toyohiko; Iwasaki, Yoshinobu; Nunomura, Mitsuru; Akino, Minoru; Koyanagi, Izumi; Abe, Hiroshi; Saito, Hisatoshi.

1991-01-01

The purpose of this study was to review magnetic resonance imaging (MRI) scans of post-traumatic syringomyelia and to assess the outcome of surgical treatment. The subjects were 16 patients (13 men and 3 women) whose ages ranged from 22 to 69 years, with a mean of 42 years. Nine patients had delayed neurologic symptoms 2 years and 2 months through 32 years after spinal injuries. The site of initial spinal cord injury was the lower cervical region in 4 patients, the thoracic region in 8, and the upper lumbar region in 4. In all patients, post-traumatic syringomyelia was easy to diagnose on MRI. MRI showed the syrinx extending superiorly and/or inferiorly from the area of old trauma, sometimes extending to the medulla oblongata. In the cervical cord and the upper thoracic cord, the syrinx was unilaterally or bilaterally situated in the postero-lateral portion. Below the middle thoracic cord, the syrinx was centrally located. Surgery was performed in 6 patients. At an average follow up of 2 years and 9 months, both pain and numbness were relieved in all patients (100%) and neurologic symptoms improved in 5 patients (83%). Post-traumatic syringomyelia should be considered in all patients having delayed onset or aggravation of neurologic symptoms after spinal injury. MRI appears promising for the early diagnosis of post-traumatic syringomyelia that can be treated favorably by surgical procedures. (N.K.)

Increased detection rate of syringomyelia by whole spine sagittal magnetic resonance images: Based on the data from military conscription of Korean young males

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Lee, Myoung Seok; Oh, Chang Hyun [Seoul Regional Military Manpower Administration, Seoul (Korea, Republic of); Yoon, Seung Hwan; Park, Hyeong Chun; Park, Chong Oon; Kim, Yeo Ju [Inha Univ. Hospital/College of Medicine/Inha Univ., Incheon (Korea, Republic of)

2012-09-15

We compared the detection rate of syringomyelia according to the type of magnetic resonance (MR) images among the Korean military conscription. Among the total of 238910 examinees (males aged 18 to 32 years old) from January 2008 to December 2011, the examinees with conventional single lesion MR images (cervical, thoracic, and lumbar) with and without whole spine sagittal T2 weighted MR images (WSST2I) totaled 1206 cases, and syringomyelia was observed in 24 cases. The detection rate of syringomyelia according to the MR protocol (the presence of WSST2I or not) was done through analysis by annually and the clinical characters of syringomyelia was reviewed. The estimated prevalence of syringomyelia was approximately 10.0 cases per 100000 people. The detection rate was increased annually when the WSST2I proportion was increased (from 3.4 to 14.9 cases per 100000 persons, r = 0.939, p = 0.018). Clinical character of syringomyelia was ambiguous with other spinal diseases. The most affected spinal level was C5 to C7 (83%), and most cases were non communicating syringomyelia with benign central canal widening (79%). Whole spine sagittal MR image is useful to detect coexisting spinal diseases such as syringomyelia, and most syringomyelia in young males was benign hydromyelia. A whole spine sagittal MR image is recommended to increase the detection of syringomyelia.

Pan, Syrinx and syringomyelia

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Leonardo Palacios-Sánchez

Full Text Available ABSTRACT Many myths and legends have had a deep influence on modern language, and on modern medical vernacular. The terms “syrinx” and “panic”are two of the most characteristic examples and their use in neurology and other specialties is well known. This article reviews the history of these words in Greek mythology and their use in modern medicine. It is known by very few that clinical symptoms or conditions, such as syringomyelia and panic attacks, have a mythological origin in their definition and naming.

MRI of secondary cervical syringomyelia in four cats

International Nuclear Information System (INIS)

Okada, Midori; Itou, Takuya; Sakai, Takeo; Kitagawa, Masato; Ito, Daisuke; Kanayama, Kiichi

2009-01-01

This report describes the use of magnetic resonance imaging (MRI) to diagnose cervical syringomyelia in 4 cats. MRI revealed enlargement of the lateral ventricle in all the cats. Of the 4 cases, MRI revealed herniation of the cerebellum in 3 cats, an isolated fourth ventricle in 1 cat, severe hydrocephalus in 2 cats and brain masses in 1 cat. In this report, the cervical syringomyelia in these cats may have been due to formation of a secondary syrinx (enlargement of the central canal) as a result of blockage of flow in the outlet of the fourth ventricle caused by feline infectious peritonitis (FIP) encephalomyelitis or secondary cerebellar tonsillar herniation caused by increased intracranial pressure due to intracranial masses or may have been due to caudal compression of the cerebellum caused by increased intracranial pressure due to hydrocephalus. (author)

Nuclear magnetic resonance tomography of the cervical canal

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Terwey, B.; Koschorek, F.; Jensen, H.P.

1985-12-01

170 patients with suspected lesions of the cervical part of the medulla were examined using nuclear magnetic resonance (NMR) tomography. 27 cases revealed no pathological changes in the regions of the cervical medulla, the cervical canal and of the cervical spine. 143 cases produced pathological findings whose diagnoses determined therapeutical approach. Verified pathological changes comprised anomalies of the cranio-cervical junction like basilar impression and Arnold-Chiari malformation, various types of cavity formation in the cervical medulla (syringomyelia, hydromyelia), demyelinization processes, intramedullary and extramedullary tumours, intervertebral disk degeneration processes, dislocation of intervertebral disks and spondylophytes with spinal stenoses. Sagittal sections in different functional positions allowed to demonstrate the biomechanical effects of extramedullary masses on the cervical medulla. However, proven tumours could not be differentiated successfully using histological methods. Nevertheless, NMR tomography will replace invasive methods like conventional cervical myelography and CT myelography in diagnostic clarification of diseases of the cervical medulla.

Post-traumatic syringomyelia

International Nuclear Information System (INIS)

Freund, M.; Sartor, K.; Aschoff, A.; Spahn, B.

1999-01-01

The improvement of preclinical emergency medicine, better surgical and conservative therapies, and the development of intensive care units and specialized centers have improved the survival rate for patients with serious spinal cord injuries. Therefore, more sequelae of chronic spinal cord injuries such as post-traumatic spinal cord cavitations also occur. The first such case was described by Bastian in 1867. Generally, these cavitations were diagnosed from 2 months up to 32 years after the trauma. The overall prevalence of post-traumatic syringomyelia (PTS) is not known; however, with the increasing use of magnetic resonance imaging (MRI), its diagnosis has increased, ranging from 2.3% of paraplegic and tetraplegic patients in 1976 and 3.2% in 1985, to nearly 50% in a selected group of patients in 1991 and 1993. In 1995, a 4.45% incidence was reported. In our clinic we are currently treating 440 cases of syringomyelia, 140 of which are PTS. Several observations suggest more than one potential mechanism for the evolution of a post-traumatic cyst or PTS. Various factors, such as hemorrhage or, in particular, ischemia within the spinal cord, blockage of the cerebrosinal fluid (CSF) pathways around the cord or localized meningeal fibrosis either alone or in combination with other factors, may be involved. Clinically, sensory disturbances, loss of motor function, pain, and modification of the deep tendon reflexes are observed in most patients. On MRI, PTS is seen as a longitudinal, cystic cavity within the spinal cord, giving a hypointense signal on T 1 -weighted images and a hyperintense signal on T 2 -weighted images. For treatment planning it is mandatory to identify the lower and upper end of the PTS on the MRI. (orig.) [de

Posttraumatic syringomyelia associated with heavy weightlifting exercises: case report.

Science.gov (United States)

Balmaseda, M T; Wunder, J A; Gordon, C; Cannell, C D

1988-11-01

Posttraumatic syringomyelia is a well-recognized late sequel to spinal trauma occurring in 1% to 3.2% of spinal cord injured patients. Its clinical presentation is usually marked by pain, ascending sensory loss, increased muscle weakness, and depressed deep tendon reflexes. The case of a 25-year-old man with C8 complete quadriplegia, who developed a syrinx five years after his initial injury, is presented. This patient kept a log of his daily physical workout which consisted of lifting weights of 50 to 60 pounds with his neck extensors and biceps. The diagnosis was made clinically and confirmed by magnetic resonance imaging. Repeated valsalva maneuvers from daily heavy weightlifting exercises most likely predisposed this patient to the development and extension of his syringomyelia. Dramatic improvement followed surgical placement of a subarachnoid shunt.

Acute trauma-induced Budd-Chiari syndrome

International Nuclear Information System (INIS)

Izard, G.; Houri, R.; Randrianasolo, S.; Gailleton, R.

1995-01-01

The diagnosis of Budd-Chiari syndrome is based on clinical signs including liver enlargement and ascites and findings of complementary examinations: echography, echo-Doppler, cat scanning (CT-scan), magnetic resonance imaging, angiography, pressure readings, laparoscopy and biopsy. Trauma is rarely reported as a cause of acute Budd-Chiari syndrome. In some cases, the trauma is so violent the supra-hepatic veins are ruptured and the dramatic outcome leaves no time for the syndrome to develop. In others, the resulting haematomas form a compression block of the supra hepatic vessels. The mechanism of the trauma in our case appears to have been unreported to date. Four days after a violent motorcycle accident, a 33-year-old man developed an acute Budd-Chiari syndrome probably due to partial and temporary thrombosis of the left and middle supra hepatic veins. A side-to-side porto-cava anastomosis with a calibrated venous graft was performed in an emergency procedure. Outcome was quite favourable and after a 4 year follow-up, the patient is in good health. (authors). 13 refs

Nuclear magnetic resonance tomography of the cervical canal

International Nuclear Information System (INIS)

Terwey, B.; Koschorek, F.; Jensen, H.P.

1985-01-01

170 patients with suspected lesions of the cervical part of the medulla were examined using nuclear magnetic resonance (NMR) tomography. 27 cases revealed no pathological changes in the regions of the cervical medulla, the cervical canal and of the cervical spine. 143 cases produced pathological findings whose diagnoses determined therapeutical approach. Verified pathological changes comprised anomalies of the cranio-cervical junction like basilar impression and Arnold-Chiari malformation, various types of cavity formation in the cervical medulla (syringomyelia, hydromyelia), demyelinization processes, intramedullary and extramedullary tumours, intervertebral disk degeneration processes, dislocation of intervertebral disks and spondylophytes with spinal stenoses. Sagittal sections in different functional positions allowed to demonstrate the biomechanical effects of extramedullary masses on the cervical medulla. However, proven tumours could not be differentiated successfully using histological methods. Nevertheless, NMR tomography will replace invasive methods like conventional cervical myelography and CT myelography in diagnostic clarification of diseases of the cervical medulla. (orig.) [de

Chiari Malformation

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... Institutes of Health (NIH), the leading supporter of biomedical research in the world. The NINDS conducts research and ... Testimony Legislative Updates Impact NINDS Contributions to Approved Therapies ... Director, Division of Intramural Research

Valoración de la capacidad laboral de la malformación de Arnold Chiari tipo I Valuation of work disability of the Arnold Chiari malformation

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Raúl Jesús Regal Ramos

2011-03-01

ándolas con los requerimientos del puesto de trabajo, no obstante existen una serie de aspectos comunes relevantes en la valoración laboral de estos pacientes.Introduction: The recent publication of a consensus document by the Research Institute of Rare Diseases, the increased incidence of Arnold-Chiari malformation (by the increased demand of cervical MRI and, simultaneously, the increased presence of these patients in hospitals where doctors can assess their functional capacity, invites us to reflect on the assessment of the working disability of these patients. Objectives: This review pretends to make an approach to various relevant aspects on the assessment of these patients' working disability. Material and methods: The following bibliographical database have been reviewed until May 2010: Medline, Embase, Cochrane. Results: The intensity of the symptoms (mostly pain is not directly related to the severity of the lesions observed in the imaging tests. The clinical symptoms may fluctuate, with periods of exacerbation and remission. The symptoms that best respond to surgery are those due to compression of the brainstem (especially cervical headache, disappearing in some cases. The presence of atrophy, ataxia, scoliosis in the pre surgery tests, and more than two years between the beginning of the symptoms and the surgery are poor post surgery evolution factors. Those clinical manifestations that do not disappear in the post surgery period or in the follow-up period could be related to permanent damage of the neural pathways or their nuclei. Despite being a congenital disease, it could be treated as a working accident, if symptoms appear after trauma. Evidence of the effectiveness of pain treatment is low. Conclusions: These patients' evaluation should always be individualized, considering the organic and or functional limitations and relating them to the requests of their job. Nevertheless, there exists a series of common relevant aspects in these patients' working

Are Established Methods of Physiotherapeutic Management for Long-term Neurological Conditions Applicable to 'Orphan' Conditions such as Syringomyelia?

Science.gov (United States)

Smith, Rebecca; Jones, Gareth; Curtis, Alexandra; Murphy, Hollie; Flint, Graham

2016-03-01

Syringomyelia is a rare or 'orphan' condition with the potential to cause significant disability and detrimental effects to quality of life. Syringomyelia shares similar symptoms to those common in other long-term neurological conditions, including spinal cord injury and multiple sclerosis. In these more prevalent conditions, physiotherapy is utilized widely and is effective in optimizing physical, psychological and social parameters. Therefore, we theorized that physiotherapy might be transferable to, and beneficial to syringomyelia patients. As a paucity of literature exists in this area, we aimed to evaluate the existing uptake and perceived efficacy of physiotherapy. An exploratory, mixed methodology was selected to derive sufficient qualitative data for analysis. Specifically designed questionnaires and semi-structured interviews yielded data on uptake and perceived physiotherapy efficacy. One hundred patients from a National Health Service tertiary syringomyelia service were invited to participate. The questionnaire and interviews were completed by 49 and 20 patients, respectively. Of the small number of patients receiving physiotherapy, the majority reported beneficial effects on pain modulation and quality of life. Stretching and hydrotherapy were deemed effective for relief of pain and stiffness. Additionally, physiotherapy was reported to provide similar benefits to surgical intervention. Syringomyelia patients report physiotherapy to provide benefits for symptom management and quality of life. Such findings suggest that established rehabilitation techniques in more common conditions may be transferable to those less prevalent. Uptake of physiotherapy was limited, seemingly because of inadequate information, knowledge and resources. To address these deficiencies, further studies should be planned investigating the effectiveness of physiotherapy modalities, such as hydrotherapy, in parallel or in conjunction with surgery and/or pharmacology. Additionally

Budd-Chiari syndrome: CT and MRI findings

International Nuclear Information System (INIS)

Xu Kai; Li Lingsun

2008-01-01

Budd-Chiari syndrome is an uncommon but often fatal disorder resulting from obstruction of hepatic venous outflow tract at the level of the hepatic veins, the inferior vena cava. The CT and MRI characteristics of Budd-Chiari syndrome are reviewed in this article especially for displaying the exact site and extent of the obstruction. In addition to this direct sign, the indirect findings of venous obstruction such as the presence of intra-and extrahepatic collateral veins, caudate lobe enlargement, inhomogeneous liver enhancement, and regenerative nodules can also be demonstrated. Awareness of these findings is important for early diagnosis and appropriate treatment. (authors)

Magnetic resonance tomography in syringomyelia

International Nuclear Information System (INIS)

Koehler, D.; Treisch, J.; Hertel, G.; Schoerner, W.; Fiegler, W.; Staedtisches Rudolf-Virchow Krankenhaus, Berlin

1985-01-01

Thirteen patients with a clinical diagnosis of syringomyelia were examined by nuclear tomography (0.35 T magnet) in the spin-echo mode. In all thirteen patients, the T1 images (Se 400/35) showed a longitudinal cavity with a signal intensity of CSF. The shape and extent of the syrinx could be adequately demonstrated in 12 of the 13 examinations. Downward displacement of the cerebellar tonsils was seen in eight cases. The examination took between half and one hour. Advantages of magnetic resonance tomography (nuclear tomography) include the absence of artifacts, images in the line of the lesion and its non-invasiveness. (orig.) [de

Budd-Chiari Syndrome in a Patient with Hepatitis C

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Joseph Frankl

2016-01-01

Full Text Available Chronic Budd-Chiari syndrome can present with cirrhosis and signs and symptoms similar to those of other chronic liver diseases. We present a case of Budd-Chiari syndrome discovered during attempted transjugular intrahepatic portosystemic shunting in a patient with decompensated cirrhosis believed to be secondary to hepatitis C. Although the patient had hepatocellular carcinoma, the Budd-Chiari syndrome was a primary disease due to hepatic venous webs. Angioplasty was performed in this case, which resolved the patient’s symptoms related to portal hypertension. Follow-up venography 5 months after angioplasty demonstrated continued patency of the hepatic veins. A biopsy was obtained in the same setting, which showed centrilobular fibrosis indicating that venous occlusion was indeed the cause of cirrhosis. It is important to consider a second disease when treating a patient with difficult to manage portal hypertension.

Budd Chiari Syndrome in a Fifteen-Year Old Girl with Systemic ...

African Journals Online (AJOL)

It is believed that in this patient, Budd Chiari Syndrome resulted from hepatic veinous thrombosis due to the presence of Lupus anticoagulants. As the young girl was suffering from antiphospholipid syndrome secondary to lupus, this milder form of Budd-Chiari Syndrome was later treated in India with surgical shunts.

Diagnosis and therapy of Budd-Chiari syndrome

International Nuclear Information System (INIS)

Bachmann, R.; Strunk, H.; Hofer, U.; Schild, H.; Brensing, K.A.

1998-01-01

Purpose: Budd-Chiari syndrome is a fairly uncommon disease in Europe. This often leads to its late diagnosis. The syndrome is characterised by portal hypertension and splanchnic congestion due to obstruction of hepatic venous outflow. This paper describes the treatment of three patients with Budd-Chiari syndrome by interventional therapeutic techniques and discusses alternative treatment modalities. Patients and Methods: The first patient presented with veno-occlusive disease and was treated by the placement of a transjugular intrahepatic portosystemic stentshunt. The second patient showed an occlusion of the major hepatic veins. After percutaneous recanalisation, a stent was placed in the right hepatic vein which remained patent. The third patient had a membranous obstruction of the right hepatic vein which was treated by percutaneous balloon dilatation. Results: In all patients the clinical symptoms resolved completely after treatment and no complications were encountered. Conclusions: The authors conclude that interventional therapeutic techniques offer a wide variety of possibilities for the treatment of patients with Budd-Chiari syndrome and are safe, effective and relatively inexpensive. However, further studies are required to assess the long-term results and survival rates of these patients. (orig.) [de

Contribuição ao estudo das malformações occipito-cervical, particularmente da impressão basilar

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Horacio M. Canelas

1952-12-01

Full Text Available The authors outline the development of the spine and skull, particularly of axis, atlas and occipital bone. As neuro-skeletal dysmorphisms, the occipito-cervical malformations belong to the neurodysplastic group. They are classified as skeletal anomalies, associated nervous malformations and meningeal reactions. Vertebralization of the occipital bone and occipitalization of atlas, subluxation of odontoid process, dysplasia of the occipital bone, dystrophia brevicollis and other anomalies are discussed. Special care is given to the study of basilar impression; its concept, history, incidence, clinical and neurological symptoms, radiological characterization (craniographic, perimyelographic and iodoventriculographic aspects and surgical treatment are reviewed. The authors report five cases of occipito-cervical malformations, which are the first references in Brazilian literature. In case 1 the anomalies (manifestation of occipital vertebra and Arnold-Chiari deformity were disclosed at an operation for cisticercosis of the posterior fossa. In the following four cases invagination of the basilar portion of the occipital bone (basilar impression could be radiologically demonstrated; in case 2 a suboccipital craniectomy and a laminectomy of atlas and axis were performed but the patient died a week later and the necroscopic examination confirmed the neuro-skeletal anomalies. In all cases there were several associated malformations. In case 2 there were occipitalization of the atlas, fusion of the first and second cervical vertebrae, supernumerary rib of the seventh cervical vertebra, supernumerary lumbar vertebra, and Arnold-Chiari deformity; at necropsy it was found a syringomyelic cyst on the cervical cord and a fibrous dural ring over the foramen magnum. Case 3 showed the syndrome of Klippel-Feil, besides supernumerary ribs of the seventh cervical and first dorsal vertebrae, Arnold-Chiari malfotmation and probable aplasia of cell groups in the

Tonsillar pulsatility before and after surgical decompression for children with Chiari malformation type 1: an application for true fast imaging with steady state precession

International Nuclear Information System (INIS)

Radmanesh, Alireza; Greenberg, Jacob K.; Smyth, Matthew D.; Limbrick, David D.; Chatterjee, Arindam; Sharma, Aseem

2015-01-01

We hypothesize that surgical decompression for Chiari malformation type 1 (CM-1) is associated with statistically significant decrease in tonsillar pulsatility and that the degree of pulsatility can be reliably assessed regardless of the experience level of the reader. An Institutional Review Board (IRB)-approved Health Insurance Portability and Accountability Act (HIPAA)-compliant retrospective study was performed on 22 children with CM-1 (8 males; mean age 11.4 years) who had cardiac-gated true-FISP sequence and phase-contrast cerebrospinal fluid (CSF) flow imaging as parts of routine magnetic resonance (MR) imaging before and after surgical decompression. The surgical technique (decompression with or without duraplasty) was recorded for each patient. Three independent radiologists with different experience levels assessed tonsillar pulsatility qualitatively and quantitatively and assessed peritonsillar CSF flow qualitatively. Results were analyzed. To evaluate reliability, Fleiss kappa for multiple raters on categorical variables and intra-class correlation for agreement in pulsatility ratings were calculated. After surgical decompression, the degree of tonsillar pulsatility appreciably decreased, confirmed by t test, both qualitatively (p values <0.001, <0.001, and 0.045 for three readers) and quantitatively (amount of decrease/p value for three readers 0.7 mm/<0.001, 0.7 mm/<0.001, and 0.5 mm/0.022). There was a better agreement among the readers in quantitative assessment of tonsillar pulsatility (kappa 0.753-0.834), compared to qualitative assessment of pulsatility (kappa 0.472-0.496) and qualitative assessment of flow (kappa 0.056 to 0.203). Posterior fossa decompression with duraplasty led to a larger decrease in tonsillar pulsatility, compared to posterior fossa decompression alone. Tonsillar pulsatility in CM-1 is significantly reduced after surgical decompression. Quantitative assessment of tonsillar pulsatility was more reliable across readers than

Tonsillar pulsatility before and after surgical decompression for children with Chiari malformation type 1: an application for true fast imaging with steady state precession

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Radmanesh, Alireza [University of California, San Francisco, Department of Radiology and Biomedical Imaging, San Francisco, CA (United States); Washington University School of Medicine, Mallinckrodt Institute of Radiology, St Louis, MO (United States); Greenberg, Jacob K.; Smyth, Matthew D.; Limbrick, David D. [Washington University School of Medicine, Department of Neurosurgery, St Louis, MO (United States); Chatterjee, Arindam; Sharma, Aseem [Washington University School of Medicine, Mallinckrodt Institute of Radiology, St Louis, MO (United States)

2015-04-01

We hypothesize that surgical decompression for Chiari malformation type 1 (CM-1) is associated with statistically significant decrease in tonsillar pulsatility and that the degree of pulsatility can be reliably assessed regardless of the experience level of the reader. An Institutional Review Board (IRB)-approved Health Insurance Portability and Accountability Act (HIPAA)-compliant retrospective study was performed on 22 children with CM-1 (8 males; mean age 11.4 years) who had cardiac-gated true-FISP sequence and phase-contrast cerebrospinal fluid (CSF) flow imaging as parts of routine magnetic resonance (MR) imaging before and after surgical decompression. The surgical technique (decompression with or without duraplasty) was recorded for each patient. Three independent radiologists with different experience levels assessed tonsillar pulsatility qualitatively and quantitatively and assessed peritonsillar CSF flow qualitatively. Results were analyzed. To evaluate reliability, Fleiss kappa for multiple raters on categorical variables and intra-class correlation for agreement in pulsatility ratings were calculated. After surgical decompression, the degree of tonsillar pulsatility appreciably decreased, confirmed by t test, both qualitatively (p values <0.001, <0.001, and 0.045 for three readers) and quantitatively (amount of decrease/p value for three readers 0.7 mm/<0.001, 0.7 mm/<0.001, and 0.5 mm/0.022). There was a better agreement among the readers in quantitative assessment of tonsillar pulsatility (kappa 0.753-0.834), compared to qualitative assessment of pulsatility (kappa 0.472-0.496) and qualitative assessment of flow (kappa 0.056 to 0.203). Posterior fossa decompression with duraplasty led to a larger decrease in tonsillar pulsatility, compared to posterior fossa decompression alone. Tonsillar pulsatility in CM-1 is significantly reduced after surgical decompression. Quantitative assessment of tonsillar pulsatility was more reliable across readers than

[Association Budd Chiari syndrome, antiphospholipid syndrome and Grave's disease].

Science.gov (United States)

Mouelhi, Leila; Chaieb, Mouna; Debbeche, Radhouane; Salem, Mohamed; Sfar, Imene; Trabelsi, Sinda; Gorgi, Yosr; Najjar, Taoufik

2009-02-01

Antiphospholipid syndrome is revealed by Budd Chiari syndrome in 5% of the cases. Antiphospholipid syndrome is characterized by venous or arterial thrombosis, foetal loss and positivity of antiphospholipid antibodies, namely lupus anticoagulant, anticardiolipin antibodies and anti-beta2-glycoprotein I. Anticardiolipin antibodies was reported in auto-immune thyroid disorders, particularly in Grave's disease. Antiphospholipid syndrome associated to Grave's disease was reported in only three cases. To describe a case report of association of Grave's disease and antiphospholipid syndrome. We report the first case of Grave's disease associated with antiphospholipid syndrome, revealed by Budd Chiari syndrome. Our observation is particular by the fact that it is about a patient presenting a Grave's disease associated with antiphospholipid syndrome revealed by Budd Chiari syndrome. This triple association has never been reported in literature. Although association between antiphospholipid syndrome and Grave's disease was previously described, further studies evaluating the coexistence of these two affections in the same patient would be useful.

Visibility of the central canal on MRI

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Petit-Lacour, M.C.; Lasjaunias, P.; Iffenecker, C.; Benoudiba, F.; Hadj Rabia, M.; Doyon, D. [Service de Neuroradiologie, Faculte de Paris Sud (France); Hurth, M. [Department of Neurosurgery, Faculte Paris Sud, Kremlin-Bicetre (France)

2000-10-01

The central canal of the spinal cord is present at birth and becomes progressively obliterated. Cadaver studies have shown that it may persiste partially or completely. To our knowledge, this entity has not been described on MRI. We reviewed 794 MRI studies of the spinal cord, and found 12 patients (aged 14 to 65 years) who had an intramedullary cavity. The cavity was at the junction of the ventral {sup 1}/{sub 3} and dorsal {sup 2}/{sub 3} of the spinal cord, except at the level of the lumbar enlargement, where it was central. It was filiform in most cases, although sometimes fusiform (3 to 4 mm in diameter), and had regular contours. The cavity were thoracic in 69 % of cases. The clinical features were totally unrelated to the image, and there were no anatomical factors (Chiari malformation, dysraphism) predisposing to syringomyelia. The images were perfectly compatible with a persistent central canal, which we interpret as a variant of normal anatomy. Therefore it is important to regard these findings as normal, to avoid unnecessary treatment and follow-up. (orig.)

Visibility of the central canal on MRI

International Nuclear Information System (INIS)

Petit-Lacour, M.C.; Lasjaunias, P.; Iffenecker, C.; Benoudiba, F.; Hadj Rabia, M.; Doyon, D.; Hurth, M.

2000-01-01

The central canal of the spinal cord is present at birth and becomes progressively obliterated. Cadaver studies have shown that it may persiste partially or completely. To our knowledge, this entity has not been described on MRI. We reviewed 794 MRI studies of the spinal cord, and found 12 patients (aged 14 to 65 years) who had an intramedullary cavity. The cavity was at the junction of the ventral 1 / 3 and dorsal 2 / 3 of the spinal cord, except at the level of the lumbar enlargement, where it was central. It was filiform in most cases, although sometimes fusiform (3 to 4 mm in diameter), and had regular contours. The cavity were thoracic in 69 % of cases. The clinical features were totally unrelated to the image, and there were no anatomical factors (Chiari malformation, dysraphism) predisposing to syringomyelia. The images were perfectly compatible with a persistent central canal, which we interpret as a variant of normal anatomy. Therefore it is important to regard these findings as normal, to avoid unnecessary treatment and follow-up. (orig.)

Treatment of selected syringomyelias with syringo-pleural shunt: the experience with a consecutive 26 cases.

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Fan, Tao; Zhao, XinGang; Zhao, HaiJun; Liang, Cong; Wang, YinQian; Gai, QiFei; Zhang, Fangyi

2015-10-01

It is well established that syringomyelia can cause neurological symptoms and deficit by accumulation of fluid within syrinx cavities that lead to internal compression within the spinal cord. When other intervention treating the underlying etiology failed to yield any improvement, the next option would be a procedure to divert the fluid from the syrinx cavity, such as syringo-subarachnoid, syringo-peritoneal or syringo-pleural shunting. The indications and long term efficacy of these direct shunting procedures are still questionable and controversial. To investigate the clinical indication, outcome and complication of syringe-pleural shunt (SPS) as an alternative for treatment of syringomyelia. We reported a retrospective 26 cases of syringomyelia were found to have indication for a diversion procedure. SPS was offered. Patients' symptoms, mJOA score, and MRI were collected to evaluate the change of the syringomyelia and prognosis of the patients. 2-tailed wilcoxon signed-rank test was used to perform the statistical analysis of the mJOA scores. All 26 patients underwent SPS. The clinical information was collected, the mean follow-up time was 27.4 months, 2-tailed wilcoxon signed-rank test was used to perform the statistical analysis of the mJOA scores. The key surgical technique, outcome and complications of SPS were reported in detail. No mortality and severe complications occurred. Postoperative MRIs revealed near-complete resolution of syrinx in 14 patients, significant shrinkage of syrinx in 10 patients, no obvious reduction or unchanged in remaining 2 patient. Postoperatively, the symptoms improved in 24 cases (92.3%). Statistical analysis of the mJOA scores showed a statistical significance (P<0.001) between the preoperative group and the 2-week postoperative group. No further significant improvement between 2 weeks to the final follow up at 27 months. Collapse or remarkable shrinkage of the syrinx by SPS could ameliorate or at least stabilize the symptoms

Expert consensus on the classification of subtype in Budd-Chiari syndrome

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Expert committee on Vane Cava Obstruction,Specialized CommitteeofEndovascology,ChineseMedicalDoctorAssociation

2017-07-01

Full Text Available From 2012 to 2015 the Department of Interventional Radiology of the Affiliated Hospital of Xuzhou Medical University undertook the clinical special research subject ”Study on the standardization of interventional diagnosis and treatment of Budd- Chiari syndrome”（No. BL2012021）， a program supported by the Department of Science and Technology of Jiangsu Province. Based on the clinical results of three years research and the scientific summary of the experience from more than 2150 cases accumulated in more than 20 years， the Department of Interventional Radiology of the Affiliated Hospital of Xuzhou Medical University presided over a demonstration meeting about “the standardization of interventional diagnosis and treatment of Budd- Chiari syndrome” on January 14， 2016 in Xuzhou City of Jiangsu Province， China. The scholars from the Expert Committee on Vena Cava Obstruction of Specialized Committee of Endovascology， Chinese Medical Doctor Association， as well as the experts from the related medical fields， including interventional radiology， vascular surgery， pathology and diagnostic imaging， who have been engaged in the study of Budd- Chiari syndrome， attended the meeting， and in the meeting the participants made a full and thorough discussion on the classification and subtypes of Budd - Chiari syndrome. The scholars and experts have unanimously reached a consensus on the subtype definition of Budd- Chiari syndrome: the Budd Chiari syndrome is suggested to be classified into the hepatic vein occlusion subtype， the inferior vena cava occlusion subtype and mixed occlusion subtype， including 10 subtype entities in total. The hepatic vein occlusion subtype includes membranous occlusion of hepatic vein/accessory hepatic vein， segmental occlusion of hepatic vein， extensive occlusion of hepatic vein， and hepatic vein occlusion associated with thrombus formation. The inferior vena cava occlusion subtype

Radiation-induced liver injury showing low intensity on T2-weighted images noted in Budd-Chiari syndrome

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Mori, Harushi [Tokyo Univ. (Japan). Graduate School of Medicine; Yoshioka, Hiroshi; Saida, Yukihisa; Itai, Yuji [Tsukuba Univ., Ibaraki (Japan). Inst. of Clinical Medicine; Mori, Kensaku [Tsukuba Univ., Ibaraki (Japan). Hospital; Ahmadi, T. [Shahid Beheshti Univ. of Medical Sciences, Teheran (Iran, Islamic Republic of); Okumura, Toshiyuki [Ibaraki Prefectural Central Hospital, Tomobe (Japan)

2002-04-01

Although it is documented that radiation can cause density or intensity changes on computed tomography or MR imaging in the irradiated hepatic parenchyma, few researchers have reported or understood the MR presentation of changes in hepatic parenchyma following radiotherapy in the patient with Budd-Chiari syndrome. The purpose of this study was to investigate the MR appearance of hepatic radiation injury in Budd-Chiari syndrome and to consider the underlying pathophysiology. The MR examinations of two patients with Budd-Chiari syndrome was compared with those of 11 patients without Budd-Chiari syndrome. The two groups, both of which suffered from hepatocellular carcinoma, underwent 50-72 Gy of proton-beam irradiation during a period of 14-43 days. Examinations including T1- and T2-weighted imaging, superparamagnetic iron oxide-enhanced imaging, and dynamic study were performed 3-10 weeks after the end of irradiation. Radiation-induced hepatic injury was observed as a low-intensity area on T2-weighted images and on delayed phase images of dynamic study in the Budd-Chiari patients, and as iso- or high-intensity areas on both images in the patients without Budd-Chiari syndrome. US-guided needle biopsy from the irradiated area in one patient with Budd-Chiari syndrome revealed mostly necrotic tissue and fibrous tissue. These MR features of hepatic radiation injury in Budd-Chiari syndrome were considered to be due to severe hepatic fibrosis. (author)

Chiari Malformation: Symptoms

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... funded research in this area © 2012 C&S Patient Education Foundation, 10 ® This presentation is for informational purposes, consult a qualified professional for medical advice. Emotional Issues Emotional: associated with mood, temperament, personality, and ...

Chiari Malformation: Treatment

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... headaches, or neurological signs Doctor’s Judgment An experienced neurosurgeon does not think the symptoms will respond to ... surgery (posterior fossa decompression), is performed by a neurosurgeon to relieve pressure caused by herniated cerebellar tonsils. ...

Chiari Malformation: Diagnosis

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... strong odors can be detected, whether someone can smile or frown, and whether there are problems swallowing. ... heels, or walk heel-to-toe along a line. © 2012 C&S Patient Education Foundation, ® This presentation is ...

Diagnosis and surgical treatment of terminal syringomyelia within spinal cord combined with tethered cord syndrome

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Jing-cheng XIE

2016-04-01

Full Text Available Objective To summarize the clinical manifestations, imaging characteristics and experience of surgical treatment of spinal cord terminal syringomyelia with tethered cord syndrome (TCS.  Methods and Results Clinical data of 10 patients with spinal cord syringomyelia combined with TCS surgically treated under microscope from January 1999 to March 2014 in our hospital were retrospectively analyzed. There were 3 males and 7 females with average age of 15.06 years old (ranged from 2 to 35 years old. The course of disease ranged from 3 months to 20 years (average 42.17 months. Among those patients, one patient presented hydromyelia, 8 patients suffered from meningeal cyst within the sacral canal, and one patient were concurrent with sacral dermal sinus. The weakness of lower extremities, especially distal limbs, was the main clinical manifestation. Five patients were accompanied with bowel and bladder dysfunction and 5 patients with sensory disturbance below the level of syringomyelia, especially hypesthesia. Preoperative MRI showed conus medullaris disappeared at the end of spinal cord, and there was fluid signal in the lower spinal cord with hypo-intensity signal in T1WI and hyper-intensity signal in T2WI without enhancement. All patients underwent surgical procedures. Under microscope, filum terminale was cut off, drainage was performed, meningeal cyst within the sacral canal was removed, and tethered cord was released. The success rate of operations was 100%. The duration of surgery ranged from 1.52 to 3.07 h (average 2.15 h, with average intraoperative blood loss 220 ml (ranged from 100 to 410 ml. The tethering filum had been totally resected and histological examination showed typical filum tissue in all cases. No operative complication was found. Visual Analogue Scale (VAS score was decreased, and the lower limbs weakness as well as bowel and bladder dysfunction was gradually relieved after operation. The period of follow-up was ranged from 6

A feline case of isolated fourth ventricle with syringomyelia suspected to be related with feline infectious peritonitis.

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Kitagawa, Masato; Okada, Midori; Sato, Tsuneo; Kanayama, Kiichi; Sakai, Takeo

2007-07-01

A one-year-old female cat was unable to stand. Magnetic resonance imaging was performed, and an enlargement of the lateral, third, and fourth ventricles and syringomyelia were detected. The cat was diagnosed with an isolated fourth ventricle (IFV) with syringomyelia. The serum isoantibody test for the feline infectious peritonitis (FIP) virus was 1:3,200. After the cat died, a pathological examination revealed nonsuppurative encephalomyelitis. We suspected that the IFV, detected in the cat, was associated with FIP encephalomyelitis. To our knowledge, there has been no report on IFV in veterinary medicine.

The nature, meanings, and dynamics of lived experiences of a person with syringomyelia: a phenomenological study.

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Hilton, Edith L; Henderson, Lesley J

2003-01-01

Syringomyelia, considered a rare neurological disease, is relatively uninvestigated in the nursing literature. The aims of this qualitative phenomenological case study were to discover the nature, meanings, and dynamics of lived experiences of a 52-year-old Caucasian male with syringomyelia. Using van Manen's Method of Phenomenological inquiry (van Manen, 1990), data were collected, checked, and analyzed according to the philosophy, approach, and methodological procedures of phenomenology. Findings revealed an overarching theme of engulfment by disease. Essential themes included loss of abilities, struggles to adapt to changes, and life as a person who was disabled. Eleven sub-themes were also identified. Implications for nursing practice are discussed.

Factor V G1691A (Leiden is a major etiological factor in Egyptian Budd-Chiari syndrome patients

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Tawhida Y. Abdel Ghaffar

2011-12-01

Full Text Available Objective: Budd-Chiari syndrome is a multifactorial disease in which several prothrombotic disorders may predispose patients to the development of thrombosis at this uncommon location (hepatic veins. The aim of this study was to determine the prevalence and characteristics of inherited thrombophilia in Egyptian Budd-Chiari syndrome patients.Materials and Methods: The study included 47 Budd-Chiari syndrome patients (20 children and 27 adults. Genotyping of Factor V G1691A (Leiden, prothrombin G20210A (PT, and methylenetetrahydrofolate reductase C677T were performed using real-time PCR and fluorescence melting curve detection analysis.Results: Factor V Leiden was observed in 29 patients (61.7%. It is the only factor that caused Budd-Chiari syndrome in 18 of the patients and in 5 of the patients with inferior vena cava involvement. Myeloproliferative disease was noted in 12 (25.5% patients, antiphospholipid syndrome in 5 (10.6%, and Behcet’s disease in 3 (6.4%. Interestingly, 3 of the children with Budd-Chiari syndrome had lipid storage disease.Conclusion: Factor V Leiden was a major etiological factor in Egyptian Budd-Chiari syndrome patients, which may have been related to the high frequency of this mutation in the study region. Factor V Leiden was also a strong thrombophilic factor and the leading cause of inferior vena cava thrombosis in these patients. Lipid storage disease should be included as a risk factor for Budd-Chiari syndrome.

Normal and pathological growth of the foramen occipitale magnum shown in the plain radiograph

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Bliesener, J.A.; Schmidt, L.R.

1980-01-01

The transverse diameter of the foramen occipitale magnum (f.o.m.) in the semiaxial skull X-ray was measured and evaluated statistically in 174 cerebrally healthy children of different ages. These normal values are contrasted with the foramen diameters of 35 children with verified Arnold-Chiari malformation as well as children with macrocephaly and microcephaly. The values in children with Arnold-Chiari malformation are all above the norm, irrespective of whether or not there is a concomitant hydrocephalus.

Bilateral pulmonary thromboembolism and Budd-Chiari syndrome in a patient with Crohn's disease on oral contraceptives Tromboembolismo de pulmón bilateral y síndrome de Budd-Chiari en paciente con enfermedad de Crohn y toma de anticonceptivos orales

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M. Valdés Mas

2009-09-01

Full Text Available Budd-Chiari syndrome can be defined as an interruption or diminution of the normal blood flow out of the liver. Patients with Budd-Chiari syndrome present with varying degrees of symptomatology that can be divided into the following categories: fulminant, acute, subacute and chronic. The subacute form is the most common presentation. A majority of patients with Budd-Chiari syndrome have an underlying hypercoagulability state. We present the case of a young woman with Crohn's disease on oral contraceptives who developed bilateral pulmonary thromboembolism and Budd-Chiari syndrome.El síndrome de Budd-Chiari consiste en la interrupción o disminución de flujo de las venas suprahepáticas. Tiene una gran variabilidad clínica en cuanto a su forma de presentación siendo la más frecuente la forma subaguda. La gran mayoría de los pacientes responden a estados de hipercoagulabilidad. Presentamos el caso de una paciente joven con enfermedad de Crohn que estaba en tratamiento con anticonceptivos orales y desarrolló un cuadro clínico de tromboembolismo de pulmón bilateral y síndrome de Budd-Chiari.

Normal and pathological growth of the foramen occipitale magnum shown in the plain radiograph

International Nuclear Information System (INIS)

Bliesener, J.A.; Schmidt, L.R.

1980-01-01

The transverse diameter of the foramen occipitale magnum (f.o.m.) in the semiaxial skull X-ray was measured and evaluated statistically in 174 cerebrally healthy children of different ages. These normal values are contrasted with the foramen diameters of 35 children with verified Arnold-Chiari malformation as well as children with macrocephaly and microcephaly. The values in children with Arnold-Chiari malformation are all above the norm, irrespective of whether or not there is a concomitant hydrocephalus. (orig.) [de

Syringomyelie en een chiari-malformatie bij een kind met scoliose

NARCIS (Netherlands)

Weijenberg, A; Brouwer, O F; Hoving, E W

2008-01-01

A 9-year-old boy who since 3 years had been treated with a brace for presumed idiopathic thoracic scoliosis was referred because of severe syringomyelia on MRI of the spinal cord. Neuroimaging of the spinal cord had been performed because of back pain, although the patient had no neurological signs

Subarachnoid pouches of the posterior fossa with syringomyelia

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Williams, B [Midland Centre for Neurosurgery and Neurology, Smethwick (UK)

1979-01-01

Three men are presented, all of whom were born with difficulty and later developed severe syringomyelia with collapsing cords on air myelography. Each had hydrocephalus and a sizable subarachnoid pouch in the posterior fossa. The clinical features and investigations are presented with a discussion of the aetiology and possible mechanisms concerned in pathogenesis and treatment. All three men had posterior fossa exploration over fifty years after birth, and the first two were also treated by valved ventriculo-atrial shunts. Each patient has improved a little since operation, but no certainly that this was due to surgery has been proved in any case; none has progressed since the last operation.

Budd-Chiari syndrome and liver transplantation

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Akamatsu, Nobuhisa; Sugawara, Yasuhiko; Kokudo, Norihiro

2015-01-01

Summary Budd-Chiari syndrome involves obstruction of hepatic venous outflow tracts at various levels from small hepatic veins to the inferior vena cava and is the result of thrombosis or its fibrous sequelae. There is a conspicuous difference in its etiology in the West and the East. Myeloproliferative disease predominates in the West and obstruction of the vena cava predominates in the East. The clinical presentation and clinical manifestations are so varied that it should be suspected in any patient with acute or chronic liver dysfunction. It should be treated with step-wise management. First-line therapy should be anticoagulation with medical treatment of the underlying illness, and interventional revascularization and TIPS are indicated in the event of a lack of response to medical therapy. Liver transplantation may be indicated as a rescue treatment or for fulminant cases with promising results. This step-by-step strategy has achieved a 5-year transplant-free survival rate of 70% and a 5-year overall survival rate of 90%. Living donor liver transplantation can also be used for patients with Budd-Chiari syndrome if deceased donor livers are scarce, but it requires a difficult procedure particularly with regard to venous outflow reconstruction. PMID:25674385

Clinical study of syringomyelia. Relation of neurological symptoms and imaging diagnosis

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Ohga, Ritsu; Konishi, Yoshihiro; Higashi, Yasuto; Kawai, Kingo; Yasuda, Takeshi; Terao, Akira (Kawasaki Medical School, Kurashiki, Okayama (Japan))

1988-12-01

We discussed the relationship between neurological symptoms and the locations of syringes observed by CT and MRI (imaging diagnosis) in six cases of syringomyelia admitted to our department during the past five years. Neurological symptoms of the upper cervical and thoracic cords were found in six cases and five cases of them had symmetric distribution. Syringes were found in all cases by delayed CT (D-CT) and MRI. Five cases had laterality. The sites in the spinal cord exhibiting severe involvement of neurological symptoms corresponded with the sites of syringes in imaging diagnosis. The main asymmetric lesions of the syringes were located in the posterior horn. They indicated the relationship with the appearance of the neurological symptoms of the lesion. We compared with the width of the longitudinal level from neurological findings and imaging diagnosis. The rostral level of both corresponded in all cases, but the caudal level corresponded in only one case and neurological symptoms were broader than syringes in imaging diagnosis. It was difficult to identify small syringes when there was complicated scoliosis. The diagnosis of typical cases of syringomyelia is mainly based on such neurological symptoms as a bilateral segmental pattern of dissociated sensory impairment in the past, but imaging diagnosis has recently come to be regarded as very important. (J.P.N.).

Sphenoid Sinus Carcinoma with Intramedullary Spinal Cord Metastasis and Syringomyelia - Report of A Case -

International Nuclear Information System (INIS)

Oh, Yoon Kyeong; Kim, Young Sook

1996-01-01

Purpose : Primary sphenoid carcinoma is rare. It accounts for 0.3% of all primary paranasal sinus malignancies. Because of the rarity of sphenoid carcinoma, large series of patients with outcome and survival statistics are currently unavailable. So we followed up the 1 case of sphenoid sinus carcinoma treated in our hospital and reported the course of the disease. In a review of case reports and small series of patients, 2-year survival was 7%. Our case is alive at 29 months after diagnosis of sphenoid sinus carcinoma. Intramedullary spinal cord metastasis (ISCM) is an unusual complication of cancer. In our case rapidly progressive paraparesis and urinary retention developed at 25 months after diagnosis of sphenoid sinus carcinoma. MRI of the thoracic spines showed the intramedullary spinal cord tumor mass at T3 and T4 level with accompanying syringomyelia. Here we report a case of ISCM associated with syringomyelia which has developed after primary sphenoid sinus carcinoma with a review of literature about the clinical behavior and treatment of this lesion

Genetics Home Reference: capillary malformation-arteriovenous malformation syndrome

Science.gov (United States)

... Institute: How the Heart Works National Institute of Neurological Disorders and Stroke: Arteriovenous Malformation Educational Resources (7 links) Boston Children's Hospital: Arteriovenous Malformation Boston Children's Hospital: Capillary Malformation ...

Fixed cord in spinal stenosis

International Nuclear Information System (INIS)

Levy, L.M.; Wang, H.; Francomano, C.; Hurko, O.; Carson, B.; Heffez, D.S.; DiChiro, G.; Bryan, R.N.

1990-01-01

This paper evaluates patients with cervical spinal canal compromise due to congenital anomalies (achondroplasia, Chiari malformation) and degenerative diseases using MR cord motion and cerebrospinal fluid (CSF) flow studies. Pulsatile longitudinal motion of the cervical cord was determined by means of cardiac-gated velocity phase contrast methods, including cine. Pathology included dwarfism (n = 15), Chiari malformation (n = 10), spondylosis (n = 10), and acute cord compression (n = 9). Symptomatic cases of congenital cervical stenosis had decreased cord motion, although CSF flow was not always significantly compromised. Postoperative cases demonstrated good cord and CSF motion, unless compression or obstruction was present

Etiology, management, and outcome of the Budd-Chiari syndrome

NARCIS (Netherlands)

S. Darwish Murad (Sarwa); A. Plessier (Aurelie); M. Hernandez-Guerra (Manuel); F. Fabris (Federica Margherita); C.E. Eapen (Chundamannil Eapen); M.J. Bahr (Matthias); J. Trebicka (Jonel); I. Morard (Isabelle); L. Lasser (Luc); J. Heller (Jörg); A. Hadengue (Antoine); P. Langlet (Philippe); H. Miranda (Helena); M. Primignani (Massimo); E. Elias (Elwyn); F.W.G. Leebeek (Frank); F.R. Rosendaal (Frits); J.C. Garcia-Pagan (Juan Carlos); D.C. Valla (Dominique Charle); H.L.A. Janssen (Harry)

2009-01-01

textabstractBackground: The Budd-Chiari syndrome (BCS) is hepatic venous outflow obstruction. What is known about the syndrome is based on small studies of prevalent cases. Objective: To characterize the causes and treatment of incident BCS. Design: Consecutive case series of patients with incident

Dumb-bell sarcoma of the foramen jugulare with syringomyelia. A radio-induced tumour

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Sieben, G; Sieben-Praet, M; de Reuck, J; de Coster, W; Remouchamps, A; Roels, H; van der Eecken, H [Ghent Rijksuniversiteit (Belgium). Dept. of. Neurology and Pathology

1980-01-01

The clinicopathological findings of a 58-year-old man, who developed cervicothoracic syringomyelia at the age of 25 are presented. He was given radiation therapy at the age of 33. At the age of 57 he developed a foramen jugulare syndrome on the left, caused by a low grade leiomyosarcoma. Etiologically, the most attractive hypothesis appears to be that the tumour was induced by radiation therapy administered 24 years previously.

Advanced MR imaging in Lhermitte-Duclos disease: moving closer to pathology and pathophysiology

International Nuclear Information System (INIS)

Thomas, B.; Krishnamoorthy, T.; Kesavadas, C.; Radhakrishnan, V.V.

2007-01-01

Lhermitte-Duclos disease (LDD, dysplastic gangliocytoma) is an extremely rare cerebellar lesion of uncertain etiology. The debate as to whether it constitutes a neoplastic, malformative, or hamartomatous lesion is still continuing. In this report we explore the usefulness of susceptibility-weighted imaging (SWI), diffusion weighted imaging (DWI), perfusion imaging, and chemical shift imaging (CSI) in demonstrating the pathology and pathophysiology in two patients with LDD. MR imaging of the brain and the cervicodorsal spine was performed on a 1.5-T scanner in a 47-year-old woman presenting with numbness and paresthesia of both upper and lower limbs, and in a 17-year-old male with right frontal headache associated with neck pain. Routine imaging in the first patient showed a left-side cerebellar mass with characteristic 'tiger-striped' thick folia associated with Chiari I malformation, tonsillar herniation and cervicodorsal syringomyelia and in the second patient a right cerebellar mass with similar findings. The SWI demonstrated the characteristic deep running veins between the folia, which is thought to be the cause for vascular contrast enhancement. Diffusion showed a T2 shine-through effect with mild increased diffusivity, and perfusion showed increase in relative cerebral blood volume, relative cerebral blood flow, and mean transit time in the lesion. MR spectroscopy demonstrated reduction in metabolites and a prominent lactate peak in both the patients. The pathological and pathophysiological significance of these findings is discussed. MRI with the newer imaging capabilities can demonstrate the pathology and pathophysiology in Lhermitte-Duclos disease better. SWI helps in detecting the veins around the thickened folia. (orig.)

Advanced MR imaging in Lhermitte-Duclos disease: moving closer to pathology and pathophysiology

Energy Technology Data Exchange (ETDEWEB)

Thomas, B.; Krishnamoorthy, T.; Kesavadas, C. [Sree Chitra Tirunal Institute for Medical Sciences and Technology, Department of Imaging Sciences and Interventional Radiology, Kerala (India); Radhakrishnan, V.V. [Sree Chitra Tirunal Institute for Medical Sciences and Technology, Department of Pathology, Kerala (India)

2007-09-15

Lhermitte-Duclos disease (LDD, dysplastic gangliocytoma) is an extremely rare cerebellar lesion of uncertain etiology. The debate as to whether it constitutes a neoplastic, malformative, or hamartomatous lesion is still continuing. In this report we explore the usefulness of susceptibility-weighted imaging (SWI), diffusion weighted imaging (DWI), perfusion imaging, and chemical shift imaging (CSI) in demonstrating the pathology and pathophysiology in two patients with LDD. MR imaging of the brain and the cervicodorsal spine was performed on a 1.5-T scanner in a 47-year-old woman presenting with numbness and paresthesia of both upper and lower limbs, and in a 17-year-old male with right frontal headache associated with neck pain. Routine imaging in the first patient showed a left-side cerebellar mass with characteristic 'tiger-striped' thick folia associated with Chiari I malformation, tonsillar herniation and cervicodorsal syringomyelia and in the second patient a right cerebellar mass with similar findings. The SWI demonstrated the characteristic deep running veins between the folia, which is thought to be the cause for vascular contrast enhancement. Diffusion showed a T2 shine-through effect with mild increased diffusivity, and perfusion showed increase in relative cerebral blood volume, relative cerebral blood flow, and mean transit time in the lesion. MR spectroscopy demonstrated reduction in metabolites and a prominent lactate peak in both the patients. The pathological and pathophysiological significance of these findings is discussed. MRI with the newer imaging capabilities can demonstrate the pathology and pathophysiology in Lhermitte-Duclos disease better. SWI helps in detecting the veins around the thickened folia. (orig.)

Radiographic studies of the ventricles in syringomyelia

International Nuclear Information System (INIS)

West, R.J.; Williams, B.

1980-01-01

Radiographic investigations of 171 patients with communicating syringomyelia have been reviewed. Hydrocephalus was found in one third of the cases and has occasionally progressed after operation on the posterior fossa, sometimes with accompanying clinical deterioration. The outlets of the fourth ventricle were usually abnormal; tonsillar descent, arachnoiditis and both together were seen. Arachnoiditis correlated strongly with a history of difficult birth. The foramen of Magendie was sometimes patent and sometimes blocked. There was no consistent level of occulusion corresponding to a persistent roof of the fourth ventricle. The cisterna magna was usually small or obliterated but some examples of large cisterns or subarachnoid pouches were found. Radiological demonstration of a communication from the fourth ventricle to the syrinx occurred in only seven patients by positive contrast material and not by air. It is suggested that a sizable communication is rare at the time when patients seek treatment. (orig.)

Sagittal reconstruction computed tomography in metrizamide cisternography. Useful diagnostic procedure for malformations in craniovertebral junction and posterior fossa

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Mochizuki, H.; Okita, N.; Fujii, T.; Yoshioka, M.; Saito, H. (Tohoku Univ., Sendai (Japan). School of Medicine)

1982-08-01

We studied the sagittal reconstruction technique in computed tomography with metrizamide. Ten ml of metrizamide, 170 mg iodine/ml in concentration, were injected by lumbar puncture. After diffusion of the injected metrizamide, axial computed tomograms were taken by thin slice width (5 mm) with overlapped technique. Then electrical sagittal reconstruction was carried out by optioned software. Injection of metrizamide, non-ionic water soluble contrast media, made clear contrasts among bone, brain parenchyma and cerebrospinal fluid with computed tomography. Sagittal reconstruction technique could reveal more precise details and accurate anatomical relations than ordinary axial computed tomography. This technique was applied on 3 cases (Arnold-Chiari malformation, large cisterna magna and partial agenesis cerebellar vermis), which demonstrated a useful diagnostic procedure for abnormalities of craniovertebral junction and posterior fossa. The adverse reactions of metrizamide were negligible in our series.

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

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Zborovska N.V. Zborovska N.V.

2012-04-01

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

Syringomyelia in mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): imaging findings following bone marrow transplantation

International Nuclear Information System (INIS)

Hite, S.H.; Krivit, W.; Haines, S.J.; Whitley, C.B.

1997-01-01

We present the imaging findings in a patient with mucopolysaccharidosis (MPS) type VI (Maroteaux-Lamy syndrome) who developed holocord syringomyelia. This represents the only reported case of syrinx formation in a child with MPS VI. Clinical, neurologic and spinal magnetic resonance imaging findings are presented. The patient has maintained a stable clinical and neurologic course over the period following allogeneic bone marrow transplant. (orig.). With 3 figs

Intraspinal neural axis abnormalities in severe spinal deformity: a 10-year MRI review.

Science.gov (United States)

Zhang, Ying; Xie, Jingming; Wang, Yingsong; Bi, Ni; Li, Tao; Zhang, Jie; Zhao, Zhi; Ou, Hua; Liu, Siyuan

2018-02-14

Documents indicated that the average prevalence of intraspinal neural axis abnormalities (INAAs) in presumed idiopathic scoliosis (PIS) patients was about 17.7%. However, paucity study focuses on the incidence of INAAs in severe spinal deformity (SSDs). In this study, we investigate the incidence of intraspinal neural axis abnormalities (IINAAs) and the clinical relevance in SSD at a single center. All the patients with SSDs admitted for spinal surgery were evaluated from 2003 to 2014. patients who present with coronal Cobb over 90° (and/or the sagittal Cobb ≥ 90°); patients with whole spine magnetic resonance imaging (MRI) done preoperatively; and patients with documented clinical findings preoperatively. ankylosing spondylitis, adult onset scoliosis, scoliosis secondary to bone destruction, and spinal dysraphism. 101 patients fulfilled the criteria were included. 43 patients were detected with INAAs (42.6%, 43/101). The most common INAAs was syrinx (S) (16/43, 37.2%). Of which, 43.7% (7/16), 37.5% (6/16), and 18.7% (3/16) were spindle, slit, and swelling types, respectively. Most of them were located in thoracic (6/16, 37.5%) and cervical (5/16, 31.3%) region. MRI revealed Chiari malformation with syringomyelia (C + S) in ten patients (10/43, 23.2%), Chiari malformation (C) in 6 patients (6/43, 13.9%) and others in 11 patients (11/43, 25.6%). As to the etiology, most patients with INAAs were PIS (34/43, 79.1%). On clinical examination, 16 of 101 patients (16/101, 15.8%) had abnormal neurologic signs. 15 of 16 patients (15/16, 93.7%) with abnormal neurologic signs had INAAs on MRI. On the other hand, 28 of 43 patients (28/43, 65.1%) with INAAs on MRI presented neurologically intact. 28 of 85 patients (28/85, 32.9%) with neurologically intact were detected with INAAs on MRI. The incidence of INAAs in SSDs was 42.6%. 65.1% of them present intact neurologic status. The most common neural anomaly was syrinx. Preoperative whole spine MRI must be beneficial for

Disproportionate rise in serum CA 125 in case of budd chiari syndrome: an unusual presentation

OpenAIRE

Prasad D. Game; Madhuri P. Holay; Satyanarayan Durgam; Sandeep Kharkar

2015-01-01

Ca 125 is used as a diagnostic and prognostic biomarker for ovarian cancer. The level of CA 125 is also elevated in benign conditions like Budd Chiari syndrome, liver cirrhosis and heart failure. But very high level of CA 125 is rarely associated with benign conditions and this can mislead the physician. Here we present a case of budd chiari syndrome in postpartum period associated with very high level of CA 125 which is an unusual presentation. [Int J Res Med Sci 2015; 3(8.000): 2129-2131

Foraminal syringomyelia: suggestion for a grading system.

Science.gov (United States)

Versari, P P; D'Aliberti, G; Talamonti, G; Collice, M

1993-01-01

The standard treatment of foraminal syringomyelia includes foramen magnum decompression and duraplasty. Improvement or stabilization of the disease are achieved in most of cases. However, at least one third of patients are reported to receive little or no benefit. In this paper we retrospectively reviewed a series of 40 consecutive foramen magnum decompressions in order to identify the possible pre-operative outcome predictors. Based on clinical evolution, neurological impairment and radiological features, a scale of severity was fixed and retrospectively tested. A pre-operative score was obtained for each patient and was correlated with the surgical results. Then a four level grading system was derived. All grade I and grade II patients achieved good results (improvement or stabilization), whereas grade III patients showed intermediate behaviour and grade IV invariably worsened. On this basis, surgical results of foramen magnum decompression might be further improved provided that a careful pre-operative selection is made.

Disgenesia do corpo caloso e más-formações associadas: achados de tomografia computadorizada e ressonância magnética Dysgenesis of the corpus callosum and associated malformations: computed tomography and magnetic resonance imaging findings

Directory of Open Access Journals (Sweden)

Cristiano Montandon

2003-10-01

Full Text Available O termo disgenesia do corpo caloso refere-se a uma má-formação deste com origem na embriogênese do telencéfalo. O relato analisa os achados de tomografia computadorizada e ressonância magnética em 11 pacientes com disgenesia calosa e em um caso de corpo caloso normal com lipoma associado. Esta pode ser distinguida em três grupos: agenesia total (três casos, agenesia parcial (seis casos e hipoplasia (dois casos. Anomalias associadas foram observadas em nove casos, incluindo má-formação de Chiari tipo II (um caso, esquizencefalia (um caso, cisto inter-hemisférico (dois casos, heterotopia nodular (um caso, cisto de Dandy-Walker (um caso e lipoma do corpo caloso (quatro casos. Este artigo demonstra um espectro destes distúrbios, auxiliando na sua interpretação diagnóstica.Callosal dysgenesis is a malformation of the corpus callosum with origins in the embryogenesis of the telencephalon. We reviewed the computed tomography and magnetic resonance imaging findings of 11 patients with callosal dysgenesis and one patient with normal corpus callosum associated with a lipoma. The patients were divided into three distinct groups: total agenesis (three patients, partial agenesis (six patients and hypoplasia (two patients. Associated abnormalities were observed in nine patients, including Chiari II malformation (one patient, schizencephaly (one patient, interhemispheric cyst (two patients, Dandy-Walker cyst (one patient, nodular heterotopy (one patient and lipoma of the corpus callosum (four patients. This paper presents a review that may contribute to the diagnosis of these disorders.

Le syndrome de Budd-Chiari: une complication rare de la ...

African Journals Online (AJOL)

L'atteinte hépatique au cours de la sarcoïdose est une localisation fréquente, habituellement asymptomatique. La cholestase anictérique et l'hypertension portale représentent ses principales complications. Le syndrome de Budd-Chiari est une complication peu connue qui demeure exceptionnelle. Nous rapportons un ...

Budd-chiari syndrome caused by diaphragmatic hernia of the liver: a case report

Energy Technology Data Exchange (ETDEWEB)

Song, Jae Min; Yoon, Jung Won; Kim, Jae Wook; Chung, Woo Kyoung; Chung, Hee Sun; Kim, Joo Hyung; Choi, Jun Ho; Kim, Seung Ho [Armed Forces Capital Hospital, Seongnam (Korea, Republic of)

2007-01-15

Budd-Chiari syndrome is an uncommon disorder, and it is caused by obstruction of the hepatic venous out-flow or inferior vena cava above the hepatic vein. It may result from a large number of conditions, including primary congenital obstructions of the hepatic veins or inferior vena cava by webs or bands. Secondary causes include trauma, polycythemia vera, chronic leukemia, pregnancy, tumors and use of oral contraceptives. No definitive etiologic factors have been identified in two thirds of all cases. We recently experienced a case of Budd-Chiari syndrome caused by diaphragmatic hernia in 21-year-old man. Postoperative follow up CT showed normal venous flow after reintroduction of the liver into the abdominal cavity and closure of the diaphragm defect.

Budd-chiari syndrome caused by diaphragmatic hernia of the liver: a case report

International Nuclear Information System (INIS)

Song, Jae Min; Yoon, Jung Won; Kim, Jae Wook; Chung, Woo Kyoung; Chung, Hee Sun; Kim, Joo Hyung; Choi, Jun Ho; Kim, Seung Ho

2007-01-01

Budd-Chiari syndrome is an uncommon disorder, and it is caused by obstruction of the hepatic venous out-flow or inferior vena cava above the hepatic vein. It may result from a large number of conditions, including primary congenital obstructions of the hepatic veins or inferior vena cava by webs or bands. Secondary causes include trauma, polycythemia vera, chronic leukemia, pregnancy, tumors and use of oral contraceptives. No definitive etiologic factors have been identified in two thirds of all cases. We recently experienced a case of Budd-Chiari syndrome caused by diaphragmatic hernia in 21-year-old man. Postoperative follow up CT showed normal venous flow after reintroduction of the liver into the abdominal cavity and closure of the diaphragm defect

Vascular malformations in pediatrics

International Nuclear Information System (INIS)

Reith, W.; Shamdeen, M.G.

2003-01-01

Vascular malformations are the cause of nearly all non-traumatic intracranial hemorrhage in children beyond the neonatal stage. Therefore, any child presenting with spontaneous intracranial hemorrhage should be evaluated for child abuse and for vascular malformations. Intracerebral malformations of the cerebral vasculature include vein of Galen malformations, arteriovenous malformation (AVM), cavernomas, dural arteriovenous fistulas, venous anomalies (DVA), and capillary teleangiectasies. Although a few familial vascular malformation have been reported, the majority are sporadic. Clinical symptoms, diagnostic and therapeutic options are discussed. (orig.) [de

Malformação da transição crânio-vertebral como causa de síndrome do ângulo ponto-cerebelar: relato de dois casos Cerebello-pontine angle syndrome associated with cranio-vertebral malformation: report of two cases

Directory of Open Access Journals (Sweden)

Amauri Batista da Silva

1972-03-01

Full Text Available Os autores relatam dois casos de síndrome do ângulo ponto-cerebelar nos quais não havia neoplasia nessa região. Ambos os pacientes apresentavam uma associação de impressão basilar com síndrome de Arnold-Chiari. Após cirurgia descompressiva de fossa posterior os casos evoluiram favoravelmente com a diminuição progressiva dos sintomas neurológicos, restando apenas, no segundo paciente, certo grau de paralisia e de espasmo facial, à direita. São feitas considerações em tôrno das causas mais freqüentes da síndrome do ângulo ponto-cerebelar, bem como acêrca dos quadros clínicos mais usualmente encontrados em doentes que apresentam malformações da transição crânio-vertebral. Finalmente, os autores tecem breves considerações a respeito do possível mecanismo lesionai do VIII, do V e do VII nervos cranianos nos dois casos relatados.Two cases of cerebelo-pontine angle syndrome associated with basilar impression and Arnold-Chiari malformation are reported. In both cases neuroradiological studies and surgical exploration failled to demonstrate any space occupying lesion. After surgery the patients progressively recovered disapearing the neurological symptoms except for a slaight hemifacial spasm that remained in case 2. Clinical signs present in cerebello-pontine angle lesions and the occipito-cervical malformations are discussed. A possible mechanism to explain the association of both conditions is discussed.

Endoscopic third ventriculostomy

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Yad Ram Yadav

2012-01-01

Full Text Available Endoscopic third ventriculostomy (ETV is considered as a treatment of choice for obstructive hydrocephalus. It is indicated in hydrocephalus secondary to congenital aqueductal stenosis, posterior third ventricle tumor, cerebellar infarct, Dandy-Walker malformation, vein of Galen aneurism, syringomyelia with or without Chiari malformation type I, intraventricular hematoma, post infective, normal pressure hydrocephalus, myelomeningocele, multiloculated hydrocephalus, encephalocele, posterior fossa tumor and craniosynostosis. It is also indicated in block shunt or slit ventricle syndrome. Proper Pre-operative imaging for detailed assessment of the posterior communicating arteries distance from mid line, presence or absence of Liliequist membrane or other membranes, located in the prepontine cistern is useful. Measurement of lumbar elastance and resistance can predict patency of cranial subarachnoid space and complex hydrocephalus, which decides an ultimate outcome. Water jet dissection is an effective technique of ETV in thick floor. Ultrasonic contact probe can be useful in selected patients. Intra-operative ventriculo-stomography could help in confirming the adequacy of endoscopic procedure, thereby facilitating the need for shunt. Intraoperative observations of the patent aqueduct and prepontine cistern scarring are predictors of the risk of ETV failure. Such patients may be considered for shunt surgery. Magnetic resonance ventriculography and cine phase contrast magnetic resonance imaging are effective in assessing subarachnoid space and stoma patency after ETV. Proper case selection, post-operative care including monitoring of ICP and need for external ventricular drain, repeated lumbar puncture and CSF drainage, Ommaya reservoir in selected patients could help to increase success rate and reduce complications. Most of the complications develop in an early post-operative, but fatal complications can develop late which indicate an importance of

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...

Cost-Effectiveness of Postoperative Ketamine in Chiari Decompression.

Science.gov (United States)

McDowell, Michael M; Alhourani, Ahmad; Pearce-Smith, Beverly A; Mazurkiewicz, Anna; Friedlander, Robert M

2018-02-01

In Chiari I patients, postoperative pain and discomfort frequently slow the transition back to the home setting. We sought to determine the effect of standardized ketamine infusion protocols on hospital length of stay (LOS). This retrospective cohort study reviewed 100 consecutive adult patients undergoing Chiari I decompression. Fifty-nine patients were placed on a 2-3 mg/hr ketamine drip until postoperative day 1. This group was compared with a group who received 2-3 mg/hr of ketamine until postoperative day 2 (19 patients) and patients who did not receive ketamine at all (22 patients). Clinical characteristics, opioid use, LOS, and relative hospitalization costs were assessed. All narcotic amounts were converted into milligram equivalents of morphine. LOS of the short-ketamine group was 46.5 hours when compared with the long-ketamine group (66.8 hours) and no-ketamine group (56.9 hours). There was a statistically significant difference when comparing the short-ketamine group with the long-ketamine group and no-ketamine group together (P ketamine protocol was used (P ketamine group, 196 mg in the long-ketamine group, and 187 mg in the no-ketamine group (P = 0.65). No adverse events from ketamine were noted. Ketamine at subanesthetic levels may be an effective tool to facilitate early return home postoperatively and may significantly reduce medical costs. Copyright © 2017 Elsevier Inc. All rights reserved.

A historical review of syringomyelia in the cranio-cervical region and new aspects for operative treatment possible after NMR examination

International Nuclear Information System (INIS)

Freckmann, N.; Herrmann, H.D.

1987-01-01

The authors discuss how radiotherapy of syringomyelia is obsolete and the necessary operational choice should be made according to the etiopathogenesis. This is essentially determined by the exact diagnosis bases on NMR imaging which, according to this review, is superior to any other neuroradiological procedures

Supratentorial CNS malformations

International Nuclear Information System (INIS)

Zlatareva, D.

2012-01-01

Full text: Clinical suspicion of a developmental anomaly of the central nervous system (CNS) is a frequent indication for performing and magnetic resonance imaging (MRI) examination of the brain. Classification systems for malformation of the CNS are constantly revised according to newer scientific research. Developmental abnormalities can be classified in two main types. The first category consists of disorders of organogenesis in which genetic defects or any ischemic, metabolic, toxic or infectious insult to the developing brain can cause malformation. These malformations result from abnormal neuronal and glial proliferation and from anomalies of neuronal migration and or cortical organization. They are divided into supra- and infratentorial and may involve grey or white matter or both. The second category of congenital brain abnormalities is disorders of histogenesis which result from abnormal cell differentiation with a relatively normal brain appearance. Supratentorial CNS malformations could be divided into anomalies in telencephalic commissure, holoprosencephalies and malformations in cortical development. There are three main telencephalic commissures: the anterior commissure, the hippocampal commissure and the corpus callosum. Their morphology (hypoplasia, hyperplasia, agenesis, dysgenesis, even atrophy) reflects the development of the brain. Their agenesis, complete or partial, is one of the most commonly observed features in the malformations of the brain and is a part of many syndromes. Malformations of cortical development (MCD) are heterogeneous group of disease which result from disruption of 3 main stages of cortical development. The common clinical presentation is refractory epilepsy and or developmental delay. The most common MCD are heterotopias, focal cortical dysplasia, polymicrogyria, schizencephaly, pachygyria and lizencephaly. The exact knowledge of the brain anatomy and embryology is mandatory to provide a better apprehension of the

Three-dimensional constructive interference in steady-state magnetic resonance imaging in syringomyelia: advantages over conventional imaging.

Science.gov (United States)

Roser, Florian; Ebner, Florian H; Danz, Søren; Riether, Felix; Ritz, Rainer; Dietz, Klaus; Naegele, Thomas; Tatagiba, Marcos S

2008-05-01

Neuroradiology has become indispensable in detecting the pathophysiology in syringomyelia. Constructive interference in steady-state (CISS) magnetic resonance (MR) imaging can provide superior contrast at the sub-arachnoid tissue borders. As this region is critical in preoperative evaluation, the authors hypothesized that CISS imaging would provide superior assessment of syrinx pathology and surgical planning. Based on records collected from a database of 130 patients with syringomyelia treated at the authors' institution, 59 patients were prospectively evaluated with complete neuroradiological examinations. In addition to routine acquisitions with FLAIR, T1- and T2-weighted, and contrast-enhanced MR imaging series, the authors obtained sagittal cardiac-gated sequences to visualize cerebrospinal fluid (CSF) pulsations and axial 3D CISS MR sequences to detect focal arachnoid webs. Statistical qualitative and quantitative evaluations of spinal cord/CSF contrast, spinal cord/CSF delineation, motion artifacts, and artifacts induced by pulsatile CSF flow were performed. The 3D CISS MR sequences demonstrated a contrast-to-noise ratio significantly better than any other routine imaging sequence (p CSF flow voids. Constructive interference in steady-state MR imaging enables the neurosurgeon to accurately identify cases requiring decompression for obstructed CSF. Motion artifacts can be eliminated with technical variations.

Siringomielia y malformación de Arnold-Chiari

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Jairo Muñoz Escobar

1971-01-01

Full Text Available Presentamos en este informe, nuestra experiencia en ocho casos de siringomielia en dos de ellos asociada a malformación de Arnold Chiari, que hemos analizado desde el punto de vista clínico y de los hallazgos de radiología simple y contrastada. Analizamos igualmente las técnicas quirúrgicas empleadas y los resultados obtenidos en siete casos que fueron intervenidos quirúrgicamente. Finalmente comparamos nuestros hallazgos y resultados con los mencionados en la literatura y hacemos algunos comentarios sobre fisio-patología.

Budd-chiari syndrome by membranous obstruction of inferior vena cava: comparison of sonography and computed tomography

International Nuclear Information System (INIS)

Lee, Dong Ho; Lim, Jae Hoon; Ko, Young Tae; Yoon, Yup; Lim, Joo Won

1992-01-01

Membranous obstruction of the hepatic inferior vena cava (MOVC) is one of the common causes of Budd-Chiari syndrome. The aim of this study is to ascertain and compare the characteristic sonographic and CT findings of Budd-Chiari syndrome caused by MOVC. We studied 10 patients of Budd-Chiari syndrome caused by MOVC thorough sonography and CT. MOVC was confirmed by operation and/or inferior vena cavography. The cases included 9 men and one woman. With sonography, IVC obstruction was diagnosed in 9 cases. The cause of IVC obstruction was web in 5 cases and fibrous cord in 3 cases. The cause was unspecified in one case. Obliteration of the hepatic veins and intrahepatic collateral vessels were delineated in 9 cases. With color doppler sonography, the directions of blood flow of the hepatic veins through the intervenous communication were fairly well demonstrated in all 5 cases. With CT, IVC obstruction was diagnosed in 7 cases. The obliteration of the hepatic segment of the IVC were segmental in 6 cases and diffuse in one case. CT demonstrated communicating vessels between the hepatic veins in 3 cases. Furthermore, systemic collateral vessels (azygos and hemiazygos veins, veins along the abdominal wall, and internal mammary veins) were demonstrated in all cases. Liver cirrhosis was combined in all cases and hepatoma developed in 4 cases. Sonography is useful to detect the MOVC and to demonstrate hepatic venous obstruction and intrahepatic collateral vessels. Color doppler sonography is easily performed to show the direction of the blood flow through interconnecting vessels. CT shows the obliterated segment of the IVC clearly and multiple prominent systemic collaterals. In conclusion, Budd-Chiari syndrome caused by MOVC is accurately diagnosed by combined color doppler sonography and CT

[The usefullness of percutaneous transluminal balloon angioplasty in the management of budd-Chiari syndrome].

Science.gov (United States)

Kim, Se Hwan; Yu, Kyung Sool; Baek, Seung Min; Lee, Seung Yup; Kim, Hyun Su; Tak, Won Young; Kweon, Young Oh; Kim, Sung Kook; Choi, Yong Hwan; Chung, Joon Mo

2002-06-01

Membranous obstruction is the most common cause of Budd-Chiari syndrome in Orientals. Recently, percutaneous transluminal balloon angioplasty (PTBA) has been successfully applied as a treatment of membranous obstruction. We evaluated etiologies and clinical manifestations in our cases and the usefulness of PTBA. Twelve cases of Budd-Chiari syndrome were analyzed. 50.3 years was the average age of the cases (ranging from 37 to 67 years). Major symptoms or signs were superficial collateral vessels on the chest or the abdomen in 6 cases, ascites in 3, abdominal pain in 4, hepatomegaly in 4, splenomegaly in 3, melena or hematemesis in 2, and leg edema in 2. Upper gastrointestinal endoscopy showed esophageal varices in 6 cases and two of these 6 cases had gastric varices. Of 8 cases with liver cirrhosis, 4 were classified as Child-Pugh class A and 4 as B. Four patients with cirrhosis had concurrent hepatocellular carcinoma including 1 patient who was HBs Ag positive. Etiologies were membranous obstruction in 11 cases and protein C deficiency in 1 case. The main site of obstruction was IVC in 8 and hepatic vein in 4. PTBA was successfully performed in 8 cases of membranous obstruction. During the mean follow-up period of 27.6 months (12-40 months), there were no reobstructions except in 2 cases. The most common cause of Budd-Chiari syndrome in our cases was membranous obstruction of IVC. Percutaneous transluminal balloon angioplasty is a very useful treatment method.

Radiosurgery for brain arteriovenous malformations

International Nuclear Information System (INIS)

Latorzeff, I.; Schlienger, M.; Sabatier, J.; Borius, P.Y.; Lotterie, J.A.; Bourdin, S.; Menegalli, D.; Cognard, C.; Januel, A.C.; Desal, H.; Debono, B.; Blond, S.

2012-01-01

Radiosurgery as treatment for arteriovenous malformations has shown a good efficacy in reducing intracranial bleeding due to rupture. The choice of therapeutic modalities is based on evolutive risk and arteriovenous malformations volume, patient profile and risks stratification following therapeutic techniques (microsurgery, radiosurgery, embolization). Nidus size, arteriovenous malformations anatomical localization, prior embolization or bleeding, distributed dose are predictive factors for radio-surgery's good results and tolerance. This review article will highlight arteriovenous malformations radiosurgery indications and discuss recent irradiation alternatives for large arteriovenous malformation volumes. (authors)

Subacute Budd-Chiari syndrome associated with polycythemia vera and factor V Leiden mutation

NARCIS (Netherlands)

Simsek, S; Verheesen, RV; Haagsma, EB; Lourens, J

We describe a 48-year-old caucasian woman with a subacute Budd-Chiari syndrome attributed to the presence of polycythaemia vera, heterozygosity for the factor V Leiden mutation and the use of an oral contraceptive pill. Two diagnostic pitfalls were encountered. First, on CT scanning of the abdomen

Un libello di citazioni. I “Frammenti morali, scientifici, eruditi e poetici” e la polemica fra Pietro Verri e l’abate Chiari

Directory of Open Access Journals (Sweden)

Valeria Tavazzi

2012-12-01

Full Text Available After recreating the occurrence of the dispute between Pietro Verri and abbot Chiari – due to Verri's favour to Goldoni in theatrical competitions – this article analyses a work entirely composed of quotations: Frammenti morali, scientifici, eruditi e poetici del signor abbate D. Pietro Chiari. This text was assembled by Verri to show that his adversary's epistles in verse were sloppy and full of incongruities. The use of quotations, as an instrument of attack and defence, is investigated by analysing some passages that preceeded the quarrel, the Frammenti, and Chiari's answer in the novel La filosofessa italiana . In addition, there emerge some aspects of the character of young Verri that might be of interest, especially within the context of his relationship with Goldoni, and in relation to Goldoni's dedication to Verri in Festino.

Budd-Chiari and inferior caval vein syndromes due to membranous obstruction of the liver veins. Successful treatment with angioplasty and transcaval TIPS

DEFF Research Database (Denmark)

Holland-Fischer, Peter

2004-01-01

The case is presented of a 25-year-old Caucasian patient with Budd-Chiari syndrome due to membranous obstruction of the liver veins and inferior caval vein syndrome as a result of secondary hyperplasia of the caudate lobe of the liver, obstructing the caval vein. Diagnosis was established...... that angioplasty and TIPS are safe and efficient procedures to reduce liver engorgement and complications of portal hypertension in selected patients with Budd-Chiari syndrome....

Radiographic evaluation of 70 patients with absence of the corpus callosum

International Nuclear Information System (INIS)

Byrd, S.E.; Flannery, A.; Osborn, R.E.; Radkowski, M.A.; Naidich, T.P.; Bohan, T.P.

1987-01-01

Absence (agenesis) of the corpus callosum is one of the most common congenital malformations of the brain seen in the pediatric population. The authors used CT, MR imaging, or US to study 70 children with absence of the corpus callosum. Patients were divided into two groups; those with isolated absence of the corpus callosum, and those with other associated brain lesions. The associated brain lesions included interhemispheric arachnoid cyst, Dandy-Walker malformations, encephaloceles, and migrational disorders (heterotopias, schizencephaly, lissencaphaly, septo-optic dysplasia, lipoma, Chiari malformations, and holoprosenscephaly). The clinical presentations and radiologic findings are described

Congenital spinal malformations

International Nuclear Information System (INIS)

Ertl-Wagner, B.B.; Reiser, M.F.

2001-01-01

Congenital spinal malformations form a complex and heterogeneous group of disorders whose pathogenesis is best explained embryologically. Radiologically, it is important to formulate a diagnosis when the disorder first becomes symptomatic. However, it is also crucial to detect complications of the disorder or of the respective therapeutic interventions in the further course of the disease such as hydromyelia or re-tethering after repair of a meningomyelocele. Moreover, once a congenital spinal malformation is diagnosed, associated malformations should be sought after. A possible syndromal classification such as in OEIS- or VACTERL-syndromes should also be considered. (orig.) [de

Foramen magnum decompression versus terminal ventriculostomy for the treatment of syringomyelia.

Science.gov (United States)

Filizzolo, F; Versari, P; D'Aliberti, G; Arena, O; Scotti, G; Mariani, C

1988-01-01

The A.A review 30 consecutive cases of syringomyelia operated on during the last seven years. Six terminal ventriculostomies (TV) and twenty-seven procedures for foramen magnum decompression (FMD) were performed. All patients of TV group had CT-myelography (CTM) and/or NMR controls at different times after surgery. Clinical results are as follows: 1) of the 6 patients who had TV, only one showed an improvement while five continued to deteriorate and three of them needed a FMD, one a cysto-peritoneal shunt and the last one died from lung cancer. 2) of the 27 patients who had FMD, twenty improved, four were unchanged and three worsened. 3) no surgical deaths occurred in this series. Postoperative NMR monitoring represents an effective non-invasive neuroradiological procedure that allows follow-up of syrinx evolution over the years.

Stent Angioplasty of Closed Mesocaval Shunt in a Patient with Budd-Chiari Syndrome

International Nuclear Information System (INIS)

Sancak, Tanzer; Karagulle, Ayse Tuba; Bilgic, Sadik; Sanlidilek, Umman; Yerdel, Mehmet Ali

2002-01-01

Budd-Chiari syndrome (BCS) is an uncommon disorder caused by hepatic venous outflow obstruction. It is characterized by ascites, hepatomegaly and abdominal pain. Percutaneous intervention shave recently been used for the treatment of BCS. We present a case of BCS with a closed mesocaval shunt which was reopened with a self-expandable metallic stent

Imperforated cor triatriatum dexter in a dog with concurrent caudal vena cava wall mineralization

NARCIS (Netherlands)

Dobak, Tetyda Paulina; Starrak, Gregory; Linn, Kathleen; Snead, Elisabeth Christine Roberston

2017-01-01

BACKGROUND: Cor triatriatum dexter (CTD) is a rare congenital cardiac malformation with various manifestations and has been sporadically described in dogs. Clinically the dogs present with nonspecific signs of right heart failure or Budd-Chiari-like syndrome. Other associated concurrent

Disease: H01675 [KEGG MEDICUS

Lifescience Database Archive (English)

Full Text Available (CSF) flow dynamics related to hindbrain disorders, e.g. Chiari malformation, Dandy-Walker...ormation, and H01675 Dandy-Walker syndrome. ICD-10: G95.0 Q06.4 MeSH: D013595 OMIM: 186700 PMID:25236931 ... A

An approach to the developmental and cognitive profile of the child ...

African Journals Online (AJOL)

Total scores tend to be less useful than more specific subscales as there are. ARTICLE. An approach to ... of constructive memory. Rote learning is the ability to learn and recall .... Arnold-Chiari-2 malformation and cognitive functioning in spina ...

Pediatric central nervous system vascular malformations

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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.)

Pediatric central nervous system vascular malformations

International Nuclear Information System (INIS)

Burch, Ezra A.; Orbach, Darren B.

2015-01-01

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.)

Angiographic and hemodynamic evaluation of the mesoatrial shunt in patients with Budd-Chiari syndrome and inferior vena caval obstruction

International Nuclear Information System (INIS)

Redmond, P.L.; Kadir, S.; Cameron, J.L.; Kaufman, S.L.; White, R.I. Jr.

1986-01-01

Obstruction of the inferior vena cava (IVC) is not uncommon in patients with the Budd-Chiari syndrome. The caval obstruction may be due to thrombus or compression by an enlarged caudate lobe. Conventional portosystemic shunts are not possible in the presence of an obstructed IVC; the mesoatrial shunt is indicated in these patients. Between 1973 and 1986, the authors studied 13 patients (ten female, three male) with Budd-Chiari syndrome and IVC obstruction in whom mesoatrial shunts were subsequently constructed. Polycythemia rubra vera was the most common predisposing condition. Preoperative evaluation included US, scintigraphy, CT, and angiography (hepatic arteriography, hepatic venography and pressure measurements, inferior vena cavography, arterial portography). Postoperatively shunts were assessed angiographically and hemodynamically, and several patients underwent CT. The shunts were catheterized via a brachial or femoral venous approach, which allowed pressures along the shunt from the superior mesenteric vein to the right atrium to be measured. The mesoatrial shunt is a relatively new procedure which is indicated in patients with the Budd-Chiari syndrome complicated by IVC obstruction. Shunt patency may be demonstrated arteriographically or with CT, but hemodynamic evaluation with measurement of pressure gradients is required to assess shunt function

Dandy-Walker Malformation

African Journals Online (AJOL)

rme

Dandy-Walker malformation is a rare congenital malformation and involves the cerebellum and fourth ventricle. The condition is characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa. A large number of concomitant problems may be ...

Retroperitoneal myxoid liposarcoma of the renal capsule causing Budd-Chiari syndrome

International Nuclear Information System (INIS)

Gruetzner, G.; Fuerst, G.; Kuhn, F.P.; Kliche, K.O.

1991-01-01

A retroperitoneal myxoid liposarcoma of the renal capsule must be differentiated from renal cell carcinomas, angiomyolipomas, fibrogenous lipomas, fibrolipomas and mixed tumours containing fat tissue. Myxoid liposarcomas can lead to intracavale tumourthromboses, which is often the case with renal cell carcinomas and revealed clinical with Budd-Chiari syndrome. Computed tomography and magnetic resonance imaging give additional information in the diagnosis of intracaval tumourthromboses and show the exact expansion of the topographic-anatomical structure. (orig.) [de

Surgical management of venous malformations.

Science.gov (United States)

Loose, D A

2007-01-01

Among vascular malformations, the predominantly venous malformations represent the majority of cases. They form a clinical entity and therefore need clear concepts concerning diagnosis and treatment. This paper presents an overview of contemporary classification as well as tactics and techniques of treatment. According to the Hamburg Classification, predominantly venous malformations are categorized into truncular and extratruncular forms, with truncular forms distinguished as obstructions and dilations, and extratruncular forms as limited or infiltrating. The tactics of treatment represent surgical and non-surgical methods or combined techniques. Surgical approaches utilize different tactics and techniques that are adopted based on the pathologic form and type of the malformation: (I) operation to reduce the haemodynamic activity of the malformation; (II) operation to eliminate the malformation; and (III) reconstructive operation. As for (I), a type of a tactic is the operation to derive the venous flow. In (II), the total or partial removal of the venous malformation is demonstrated subdivided into three different techniques. In this way, the infiltrating as well as the limited forms can be treated. An additional technique is dedicated to the treatment of a marginal vein. Approach (III) involves the treatment of venous aneurysms, where a variety of techniques have been successful. Long-term follow-up demonstrates positive results in 91% of the cases. Congenital predominantly venous malformations should be treated according to the principles developed during the past decades in vascular surgery, interventional treatment and multidisciplinary treatment. The days of predominantly conservative treatment should be relegated to the past. Special skills and experiences are necessary to carry out appropriate surgical strategy, and the required operative techniques should be dictated by the location and type of malformation and associated findings.

The advantages of computed tomography over conventional x-ray examination in the treatment of cervical spinal diseases

International Nuclear Information System (INIS)

Shin, Hideo; Yamaura, Akira; Makino, Hiroyasu

1982-01-01

Computed tomography (CT) of the cervical spinal column was carried out in 42 patients using a General Electric CT/T of a Toshiba TCT60 Type A scanner. There were 22 cervical disk lesions, 4 spinal neoplasms, 6 narrow spinal canals with or without ossification of posterior longitudinal ligament, 2 syringomyelias, 6 traumas and 2 Arnold-Chiari malformations. In all patients, CT-examination followed conventional spinal X-ray studies. Correlation between the CT and conventional X-ray findings revealed the better diagnostic capability of the CT. For example, the measured midline sagittal diameter of the spinal canal in a patient with the narrowest canal in this series was 7.4 mm on the CT and 9.6 mm on the conventioned plain film at the C 5 level. To know the precise sagittal diameter of the cord itself, CT myelography (CTM) is indispensable. CTM is useful in determining the nature of the disease, the risk and approach of surgery, and for evaluation after the surgical procedure. Although the range of motion of cervical joints and intervertebral foramen are visible with conventional films, the size and extension of a tumor, the degree of bony errosion and the spinal subarachnoid space can be precisely identified only by CT. CT study of the spine and spinal cord is a simple procedure and less likely to produce complication, even with CTM, although there are certain limitations in the examination which are also presented. (author)

Advantages of computed tomography over conventional x-ray examination in the treatment of cervical spinal diseases

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Shin, Hideo; Yamaura, Akira; Makino, Hiroyasu (Chiba Univ. (Japan). School of Medicine)

1982-07-01

Computed tomography (CT) of the cervical spinal column was carried out in 42 patients using a General Electric CT/T of a Toshiba TCT60 Type A scanner. There were 22 cervical disk lesions, 4 spinal neoplasms, 6 narrow spinal canals with or without ossification of posterior longitudinal ligament, 2 syringomyelias, 6 traumas and 2 Arnold-Chiari malformations. In all patients, CT-examination followed conventional spinal X-ray studies. Correlation between the CT and conventional X-ray findings revealed the better diagnostic capability of the CT. For example, the measured midline sagittal diameter of the spinal canal in a patient with the narrowest canal in this series was 7.4 mm on the CT and 9.6 mm on the conventioned plain film at the C/sub 5/ level. To know the precise sagittal diameter of the cord itself, CT myelography (CTM) is indispensable. CTM is useful in determining the nature of the disease, the risk and approach of surgery, and for evaluation after the surgical procedure. Although the range of motion of cervical joints and intervertebral foramen are visible with conventional films, the size and extension of a tumor, the degree of bony errosion and the spinal subarachnoid space can be precisely identified only by CT. CT study of the spine and spinal cord is a simple procedure and less likely to produce complication, even with CTM, although there are certain limitations in the examination which are also presented.

Acromesomelic dysplasia (Marotaeux type associated with craniovertebral junction anomaly: A report of a rare case and review of literature

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Jayesh C Sardhara

2014-01-01

Full Text Available Acromesomelic dysplasia Maroteaux type (AMDM is a rare autosomal recessive osteochondrodysplasia. The responsible gene, AMDM gene, in human beings, has been mapped on 9p13-q12 chromosome by homozygous mapping and pathogenic mutation was later identified in natriuretic receptor B (NPR-B which has been implicated in the regulation of skeletal growth. Till now, around 40 to 50 cases of AMDM have been described in the world literature. Association of the congenital craniovertebral (CV junction anomaly has not been reported. Here we are presenting a case of AMDM, with CV junction anomaly. A 10-year boy presented with short stature (122 cm with short distal limbs, symptomatic for thoracic kyphoscoliosis with back pain. On examination there were no neurological deficits. On radiological investigation, he was found to have short and broad phalanges and toes, thoracic kyphoscoliosis, abnormal pelvic ring, mild ventriculomegaly, cervical syringomyelia and tonsillar descent below foramen magnum, hydrocephalus, os odontoideum with Klippel-Feil anomaly. This was diagnosed as AMDM with congenital os odontoideum, Klippel-Feil anomaly with Arnold-Chiari malformation (ACM type-1. The patient underwent posterior fossa decompression by removal of foramen magnum ring along with C1 arch for ACM type-1. Kyphosis was left for conservative treatment till further observation and required orthopedic correction in his further age. To the best of our knowledge this is a very rare entity of AMDM with congenital CV junction anomaly.

Diagnosis and Management of Budd Chiari Syndrome: An Update

International Nuclear Information System (INIS)

Copelan, Alexander; Remer, Erick M.; Sands, Mark; Nghiem, Hanh; Kapoor, Baljendra

2015-01-01

Imaging plays a crucial role in the early detection and assessment of the extent of disease in Budd Chiari syndrome (BCS). Early diagnosis and intervention to mitigate hepatic congestion is vital to restoring hepatic function and alleviating portal hypertension. Interventional radiology serves a key role in the management of these patients. The interventionist should be knowledgeable of the clinical presentation as well as key imaging findings, which often dictate the approach to treatment. This article concisely reviews the etiology, pathophysiology, and clinical presentation of BCS and provides a detailed description of imaging and treatment options, particularly interventional management

Diagnosis and Management of Budd Chiari Syndrome: An Update

Energy Technology Data Exchange (ETDEWEB)

Copelan, Alexander, E-mail: alexander.copelan@beaumont.edu [William Beaumont Hospital, Diagnostic Radiology Department (United States); Remer, Erick M., E-mail: remere1@ccf.org; Sands, Mark, E-mail: sandsm@ccf.org [Cleveland Clinic, Imaging Institute (United States); Nghiem, Hanh, E-mail: HNghiem@beaumont.edu [William Beaumont Hospital, Diagnostic Radiology Department (United States); Kapoor, Baljendra, E-mail: kapoorb@ccf.org [Cleveland Clinic, Imaging Institute (United States)

2015-02-15

Imaging plays a crucial role in the early detection and assessment of the extent of disease in Budd Chiari syndrome (BCS). Early diagnosis and intervention to mitigate hepatic congestion is vital to restoring hepatic function and alleviating portal hypertension. Interventional radiology serves a key role in the management of these patients. The interventionist should be knowledgeable of the clinical presentation as well as key imaging findings, which often dictate the approach to treatment. This article concisely reviews the etiology, pathophysiology, and clinical presentation of BCS and provides a detailed description of imaging and treatment options, particularly interventional management.

[Identification of risk factors for congenital malformations].

Science.gov (United States)

Canals C, Andrea; Cavada C, Gabriel; Nazer H, Julio

2014-11-01

The relative importance of congenital malformations as a cause of death in the first year of life is increasing along with the control of preventable causes of perinatal mortality. To identify risk factors for congenital malformations. Retrospective case-control study of births registered in the database of The Latin American Collaborative Study of Congenital Malformations (ECLAMC), in the period 2001-2010. Birth weight and gestational age were significantly lower in cases than controls, behaving as risk factors and associated with a greater severity of congenital malformations. The risk and severity of congenital malformations increased along with mother's age. Fetal growth retardation, a history of congenital malformations in the family, physical factors and acute illnesses of the mother in the first trimester of pregnancy were also significant risk factors for congenital malformations and their severity. The educational level of the mother was a protective factor for congenital malformations and their severity. Variables previously identified as risk factors for congenital malformations, were significantly related with the occurrence of congenital malformations and their severity.

A Case of Acute Budd-Chiari Syndrome Complicating Primary Antiphospholipid Syndrome Presenting as Acute Abdomen and Responding to Tight Anticoagulant Therapy

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Naofumi Chinen

2016-01-01

Full Text Available A 34-year-old woman with primary antiphospholipid syndrome was admitted to the Gastroenterology Department of our hospital with fever, acute abdomen, watery diarrhea, and extremely high levels of inflammatory parameters. She had a history of left lower limb deep vein thrombosis and pulmonary embolism and was taking warfarin potassium. Acute gastroenteritis was suspected and an antibiotic was administered, but symptoms progressed. Abdominal ultrasonography showed occlusion of the left hepatic vein and the middle hepatic vein and her D-dimer level was high. Accordingly, Budd-Chiari syndrome was diagnosed and high-dose intravenous infusion of heparin was initiated. Her abdominal symptoms improved and the levels of inflammatory parameters and D-dimer decreased rapidly. It is known that antiphospholipid syndrome can be complicated by Budd-Chiari syndrome that usually occurs as subacute or chronic onset, but acute onset is rare. It is difficult to diagnose acute Budd-Chiari syndrome complicating antiphospholipid syndrome and this complication generally has a poor outcome. However, the present case can get early diagnosis and successful treatment with tight anticoagulant therapy.

Aortic arch malformations

Energy Technology Data Exchange (ETDEWEB)

Kellenberger, Christian J. [University Children' s Hospital, Department of Diagnostic Imaging, Zuerich (Switzerland)

2010-06-15

Although anomalies of the aortic arch and its branches are relatively uncommon malformations, they are often associated with congenital heart disease. Isolated lesions may be clinically significant when the airways are compromised by a vascular ring. In this article, the development and imaging appearance of the aortic arch system and its various malformations are reviewed. (orig.)

Aortic arch malformations

International Nuclear Information System (INIS)

Kellenberger, Christian J.

2010-01-01

Although anomalies of the aortic arch and its branches are relatively uncommon malformations, they are often associated with congenital heart disease. Isolated lesions may be clinically significant when the airways are compromised by a vascular ring. In this article, the development and imaging appearance of the aortic arch system and its various malformations are reviewed. (orig.)

MRI of the brain: malformations

International Nuclear Information System (INIS)

Treguier, C.; Heautot, J.F.; Gandon, Y.; Carsin, M.; Buhe, T.; Weppe, V.

1990-01-01

Brain malformations include occlusion, diverticula, neuronal migration abnormalities, cystic malformations, and histogenetic disorders in neurocutaneous syndromes. The multiple planes of section, excellent white/gray matter differentiation and accurate delineation of the brain cortex available with magnetic resonance imaging make it a tool of choice for the diagnosis of malformations, as well as for prognosis and genetic counseling [fr

RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation.

Science.gov (United States)

Flore, Leigh Anne; Leon, Eyby; Maher, Tom A; Milunsky, Jeff M

2012-06-01

Capillary malformation-arteriovenous malformation (CM-AVM; MIM 60354) is an autosomal dominant disorder characterized by multifocal cutaneous capillary malformations, often in association with fast-flow vascular lesions, which may be cutaneous, subcutaneous, intramuscular, intraosseus, or cerebral arteriovenous malformations or arteriovenous fistulas. CM-AVM results from heterozygous mutations in the RASA1 gene. Capillary malformations of the skin are common, and clinical examination alone may not be able to definitively diagnose-or exclude- CM-AVM. We report a family in which the proband was initially referred for a genetic evaluation in the neonatal period because of the presence of a cardiac murmur and minor dysmorphic features. Both he and his mother were noted to have multiple capillary malformations on the face, head, and extremities. Echocardiography revealed dilated head and neck vessels and magnetic resonance imaging and angiography of the brain revealed a large infratentorial arteriovenous fistula, for which he has had two embolization procedures. RASA1 sequence analysis revealed a heterozygous mutation, confirming his diagnosis of CM-AVM. We established targeted mutation analysis for the proband's mother and sister, the latter of whom is a healthy 3-year-old whose only cutaneous finding is a facial capillary malformation. This revealed that the proband's mother is also heterozygous for the RASA1 mutation, but his sister is negative. Consequently, his mother will undergo magnetic resonance imaging and angiography screening for intracranial and spinal fast-flow lesions, while his sister will require no imaging or serial evaluations. Targeted mutation analysis has been offered to additional maternal family members. This case illustrates the benefit of molecular testing in diagnosis and making screening recommendations for families with CM-AVM.

Comparative evaluation of ultrasonography, computed tomography and magnetic resonance imaging in the follow-up of Budd-Chiari syndrome

Energy Technology Data Exchange (ETDEWEB)

Legmann, P; Levesque, M; De, Broucker F; F,; Hay, J M; Maillard, J N

1988-01-01

A comparative evaluation of ultrasonography, computed tomography and MRI in 8 patients operated for Budd-Chiari syndrome is reported. The results obtained, evaluated separately for each technique and then compared between each other and with the data of superior coelio-mesenteric angiography and inferior cavography, show that the MRI data is very clearly superior to the data obtained by ultrasonography and computed tomography. MRI allows simultaneous assessment of the hepatic parenchyma, evaluation of portal hypertension and the porto-caval anastomosis, which are all essential elements in the follow-up Budd-Chiari syndrome. However, in the light of the literature, the authors stress that ultrasonography associated with pulsed Doppler also ensures satisfactory vascular and parenchymal assessment of this disease in the majority of cases.

Comparative evaluation of ultrasonography, computed tomography and magnetic resonance imaging in the follow-up of Budd-Chiari syndrome

International Nuclear Information System (INIS)

Legmann, P.; Levesque, M.; Broucker, F. de; Hay, J.M.; Maillard, J.N.

1989-01-01

The authors report a comparative evaluation of ultrasonography, computed tomography and MRI in 8 patients operated for Budd-Chiari syndrome. The results obtained, evaluated separately for each technique and then compared between each other and with the data of superior coelio-mesenteric angiography and inferior cavography, showed that MRI data is very clearly superior to the data obtained by ultrasonography and computed tomography. MRI allows simultaneous assessment of the hepatic parenchyma, and evaluation of portal hypertension and the porto-caval anastomosis, which are all essential elements in the follow-up Budd-Chiari syndrome. However, in the light of the literature, the authors stress that ultrasonography associated with pulsed Doppler also ensures satisfactory vascular and parenchymal assessment of this disease in the majority of cases [fr

Genetics Home Reference: Dandy-Walker malformation

Science.gov (United States)

... Twitter Home Health Conditions Dandy-Walker malformation Dandy-Walker malformation Printable PDF Open All Close All Enable ... to view the expand/collapse boxes. Description Dandy-Walker malformation affects brain development, primarily development of the ...

Achados cirúrgicos em 260 casos de impressão basilar e/ou malformação de Arnold-Chiari

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José Alberto Gonçalves da Silva

1994-09-01

Full Text Available A impressão basilar é malformação frequentemente observada no Nordeste do Brasil. No período de 1971 a 1992 foram operados, em nosso Serviço, 260 pacientes com malformações occipitocervicais, sendo 29 (11,1% casos de impressão basilar pura, 18 (6,9% com malformação de Arnold-Chiari e 213 (81,9% com impressão basilar associada à malformação de Arnold-Chiari. São relatados os achados cirúrgicos do plano ósseo, da dura-máter, do tecido nervoso e dos vasos da fossa posterior.

RISK FACTORS IN CHILD CONGENITAL MALFORMATIONS

OpenAIRE

Alina-Costina LUCA; Mirabela SUBOTNICU

2015-01-01

Congenital heart malformations are among the most common congenital malformations. Congenital heart malformations occur due to genetic and environmental factors during embryonic morphogenesis period of the heart. About 25% of these malformations are severe, requiring intervention immediately after birth or in infancy. Abnormalities of structure and function of the heart and great vessels are the consequence of teratogenic factors occurring between day 19 and 45 of gestation. (Yagel et al...

Cardiac and vascular malformations

International Nuclear Information System (INIS)

Ley, S.; Ley-Zaporozhan, J.

2015-01-01

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.) [de

Budd–Chiari Syndrome in Young Chinese: Clinical Characteristics, Etiology and Outcome of Recanalization from a Single Center

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Zhou, Wen-Jie, E-mail: 776260859@qq.com; Cui, Yan-Feng, E-mail: cuiyanfeng366@126.com; Zu, Mao-Heng, E-mail: cjr.zumaoheng@vip.163.com; Zhang, Qing-Qiao, E-mail: 1427286069@qq.com; Xu, Hao, E-mail: xuhao585@yeah.net [Affiliated Hospital of Xuzhou Medical College, Department of Interventional Radiology (China)

2016-04-15

PurposeWe aimed to characterize the clinical profile, etiology, and outcomes of young Chinese patients with Budd–Chiari syndrome treated with recanalization.MethodsA total of 35 consecutive young patients (≤25 years of age) with primary Budd–Chiari syndrome treated with recanalization at our center were enrolled in this study between March 2011 and December 2014. Data on baseline information, etiology tests, therapeutic recanalization strategies, and follow-up were collected.ResultsThe most common clinical feature was ascites, present in 33 cases (94 %). Hepatic vein obstruction was present in 60 % (21/35) of patients, inferior vena cava obstruction in 3 % (1/35), and combined obstruction in 37 % (13/35). The most common risk factor for thrombosis was hyperhomocysteinemia (14/35, 40 %). Recanalization was technically successful in 32 of 35 patients (91 %), and clinically successful in 28 of these 32 patients (88 %). The cumulative 1- and 3-year primary patency rates were 75.2 and 54.3 %, respectively. The cumulative 1- and 3-year secondary patency rates were 89.3 and 89.3 %, respectively. The cumulative 1- and 3-year survival rates were 96.9 and 93.8 %, respectively.ConclusionIn this study, the most common type of lesion was hepatic vein obstruction, the most common thrombotic risk factor was hyperhomocysteinemia, and recanalization resulted in good mid-term outcomes in young Chinese patients with Budd–Chiari syndrome.

A new classification for cochleovestibular malformations.

Science.gov (United States)

Sennaroglu, Levent; Saatci, Isil

2002-12-01

The report proposes a new classification system for inner ear malformations, based on radiological features of inner ear malformations reviewed in 23 patients. The investigation took the form of a retrospective review of computerized tomography findings relating to the temporal bone in 23 patients (13 male and 10 female patients) with inner ear malformations. The subjects were patients with profound bilateral sensorineural hearing loss who had all had high-resolution computed tomography (CT) with contiguous 1-mm-thick images obtained through the petrous bone in axial sections. The CT results were reviewed for malformations of bony otic capsule under the following subgroups: cochlear, vestibular, semicircular canal, internal auditory canal (IAC), and vestibular and cochlear aqueduct malformations. Cochlear malformations were classified as Michel deformity, common cavity deformity, cochlear aplasia, hypoplastic cochlea, incomplete partition types I (IP-I) and II (IP-II) (Mondini deformity). Incomplete partition type I (cystic cochleovestibular malformation) is defined as a malformation in which the cochlea lacks the entire modiolus and cribriform area, resulting in a cystic appearance, and there is an accompanying large cystic vestibule. In IP-II (the Mondini deformity), there is a cochlea consisting of 1.5 turns (in which the middle and apical turns coalesce to form a cystic apex) accompanied by a dilated vestibule and enlarged vestibular aqueduct. Four patients demonstrated anomalies involving only one inner ear component. All the remaining patients had diseases or conditions affecting more than one inner ear component. Eight ears had IP-I, and 10 patients had IP-II. Ears with IP-I had large cystic vestibules, whereas the amount of dilation was minimal in patients with IP-II. The majority of the semicircular canals (67%) were normal. Semicircular canal aplasia accompanied cases of Michel deformity, cochlear hypoplasia, and common cavity. In 14 ears, the IAC had a

Congenital heart defects and extracardiac malformations.

Science.gov (United States)

Rosa, Rosana Cardoso M; Rosa, Rafael Fabiano M; Zen, Paulo Ricardo G; Paskulin, Giorgio Adriano

2013-06-01

To review the association between congenital heart defects and extracardiac malformations. Scientific articles were searched in the Medline, Lilacs, and SciELO databases, using the descriptors "congenital heart disease," "congenital heart defects," "congenital cardiac malformations," "extracardiac defects," and "extracardiac malformations." All case series that specifically explored the association between congenital heart defects and extracardiac malformations were included. Congenital heart diseases are responsible for about 40% of birth defects, being one of the most common and severe malformations. Extracardiac malformations are observed in 7 to 50% of the patients with congenital heart disease, bringing a greater risk of comorbidity and mortality and increasing the risks related to heart surgery. Different studies have attempted to assess the presence of extracardiac abnormalities in patients with congenital heart disease. Among the changes described, those of the urinary tract are more often reported. However, no study has evaluated all patients in the same way. Extracardiac abnormalities are frequent among patients with congenital heart disease, and patients with these alterations may present an increased risk of morbimortality. Therefore, some authors have been discussing the importance and cost-effectiveness of screening these children for other malformations by complementary exams.

Anophthalmia-plus syndrome with unusual findings. A clinical report and review of the literature.

Science.gov (United States)

Cayir, A; Tasdemir, S; Eroz, R; Yuce, I; Orbak, Z; Tatar, A

2013-01-01

We present a male child at 3 years old with Anophthalmia-Plus Syndrome (APS). He has asymmetry of the face and head, left choanal atresia, a sunken facial appearance, microphthalmia in the right eye, severe microphthalmia in the left eye, bilateral low-set ears, scarring from cleft palate surgery. Magnetic resonance imaging (MRI) sections revealed decreased right globe volume, an undeveloped left globe, decreased left optical nerve thickness, Chiari type 2 malformation, left choanal atresia and cleft palate. Echocardiography and abdominal ultrasonography were normal. The patient has a 45 dB conductive hearing loss in the left ear. Repeated thyroid function tests were evaluated as compatible with central hypothyroidism. We report a Fryns Anophthalmia-Plus Syndrome in a child with unusual findings including central hypothyroidism, chiari type 2 malformation, conductive hearing loss and developmental regression. Summary of the features reported in the present case and all 14 previous cases that might be defined as APS.

Post-traumatic syringomyelia: CSF hydrodynamic changes following spinal cord injury are the driving force in the development of PTSM.

Science.gov (United States)

Shields, Christopher B; Zhang, Yi Ping; Shields, Lisa B E

2012-01-01

Post-traumatic syringomyelia (PTSM) is a disorder that occurs infrequently following spinal cord injury (SCI), characterized by progressive neurological deterioration resulting from syrinx expansion originating in proximity to the traumatic epicenter. Several pathogenetic factors are associated with this disorder, however, the precise mechanism of the development of PTSM is controversial. Combined anatomical alterations and molecular changes following trauma to the spinal cord and arachnoid participate in the development of this condition. These factors include narrowing or obstruction of the subarachnoid space (SAS), central canal occlusion, myelomalacia, and alterations in intramedullary water permeability. If a patient sustains a SCI with delayed progressive deterioration in neurological function, in association with the MRI appearance of syringomyelia (SM), the diagnosis of PTSM is straightforward. The treatment of PTSM has not undergone any significant changes recently. The surgical treatment of PTSM consists of reconstructing the SAS or shunting fluid away from the syrinx to other locations. The advantages and disadvantages of each procedure will be discussed. With greater understanding of the mechanisms contributing to the development of SM, including advanced diagnostic methods and further advances in the development of artificial dural and shunting tubing, future therapies of PTSM will be more effective and long-lasting. Incorporation of alterations of AQP4 expression provides an intriguing possibility for future treatment of PTSM. Copyright © 2012 Elsevier B.V. All rights reserved.

Activity patterns in malformed fetuses.

Science.gov (United States)

Rayburn, W F; Barr, M

1982-04-15

Knowledge of a malformed fetus before the onset of labor would assist the physician in preparing the expectant parents, managing the timing and method of delivery, and preparing for the immediate care of a salvageable infant. This 3-year prospective investigation compared the activity patterns of fetuses who were later found to have major malformation with those of fetuses who had no apparent defects. Fetal motion over prolonged periods was determined by daily charting of fetal movement by the mother. Although not a reliable predictor for all malformations, evidence of fetal inactivity was found to be more common (p less than 0.0001) among fetuses with anomalies (16 of 58 cases, 28%) than among those with no defects (39 of 1,098 cases, 4%). All malformations associated with fetal inactivity were strongly suspected ultrasonographically and included hydrocephalus, gastroschisis, nonimmune hydrops, bilateral renal agenesis, and bilateral dislocation of the hips. Documentation of fetal inactivity is helpful in recognizing certain major malformations and constitutes grounds for more detailed study by ultrasonography.

Tratamento da síndrome de Budd-Chiari por meio da colocação de tips e de "stent" venoso supra-hepático Transjugular intrahepatic portosystemic shunt (TIPS and suprahepatic venous stenting in the management of Budd-Chiari syndrome

Directory of Open Access Journals (Sweden)

Jurandi A. Bettio

2002-11-01

Full Text Available OBJETIVOS: Descrever o uso do "shunt" intra-hepático portossistêmico (TIPS e do "stent" venoso supra-hepático no manejo da síndrome de Budd-Chiari, enfocando suas indicações, aspectos técnicos e benefícios do procedimento. MATERIAIS E MÉTODOS: De janeiro de 1999 a março de 2002, nove casos de síndrome de Budd-Chiari foram encaminhados ao Serviço de Hemodinâmica do Hospital São Lucas, Porto Alegre, RS. A obstrução venosa supra-hepática foi constatada em todos os casos por meio de ultra-sonografia com Doppler em cores. A criação de TIPS foi realizada entre o sistema venoso supra-hepático ou a veia cava inferior e a veia porta, posicionando-se a endoprótese entre as duas abordagens. Doppler em cores pós-procedimento foi efetuado em todos os pacientes em períodos seriados. RESULTADOS: Três casos foram tratados inicialmente com inserção de "stent" venoso por apresentarem estenose preponderante em veias supra-hepáticas. Em dois desses casos ocorreu trombose do "stent", sendo necessária colocação de TIPS. Os demais seis casos foram tratados primariamente com TIPS. Dos oito "shunts" criados, trombose da endoprótese foi constatada em três casos, resolvidas com limpeza dos trombos e dilatação com balão em um caso e inserção de novas próteses nos demais. Embolização com molas de colaterais venosas ectasiadas foi efetuada em um paciente. CONCLUSÕES: A colocação de TIPS constitui-se numa estratégia terapêutica segura e efetiva na síndrome de Budd-Chiari, promovendo uma significativa melhora clínica e hemodinâmica dos pacientes, evitando procedimentos mais invasivos e podendo, em casos sem cirrose estabelecida, servir de tratamento definitivo da hipertensão portal.OBJECTIVE: To evaluate the use of transjugular intrahepatic portosystemic shunt (TIPS and suprahepatic venous stenting in the management of Budd-Chiari syndrome, emphasizing the indications, technical aspects and the advantages of the procedure

Characteristics and treatment of cavernous malformations

International Nuclear Information System (INIS)

Takagi, Kenji; Ishida, Mitsuaki; Okabe, Hidetoshi; Nozaki, Kazuhiko

2013-01-01

Cavernous malformations are clusters of dilated sinusoidal channels with thin walls devoid of elastin and smooth muscle. They have no intervening brain tissue. They occur both in sporadic and familial forms. The genes responsible for cavernous malformations have been identified. Recent reports show that mutations of these responsible genes are involved not only in familial but also in sporadic forms. Germline and somatic mutations may occur before cavernous malformations develop (two-hit mechanism). Two patterns, with mulberry-like and hematoma-like appearances, are seen intraoperatively, and from histological findings, mulberry-like appearance may change into hematoma-like one by intralesional hemorrhage. Cavernous malformation treatments include open surgery and radiosurgery. Open surgery is usually chosen for the treatment of symptomatic hemorrhagic cavernous malformations because post-radiosurgical annual bleeding risks at the early phase seem to be higher than those of open surgery. If open surgery has a high risk because of lesion location, radiosurgery becomes an effective alternative treatment. Brainstem cavernous malformations have high annual bleeding and re-bleeding incidence, so if the lesion is accessible with low risk, open surgery is recommended. (author)

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.)

Imaging of the cloacal malformation

International Nuclear Information System (INIS)

Jaramillo, D.; Lebowitz, R.L.; Hendren, W.H.

1989-01-01

Sixty-two newborns with the cloacal malformation were evaluated to define variation in cloacal configuration, associated anomalies, and optimal approach to imaging. Cloacal malformations were classified according to level of urethrovaginal confluence (47 low, 15 high); level of rectal communication (47 vaginal, seven cloacal, eight other); and cloacal appearance (34 urethral, 28 vaginal, 10 transistional). Lower urinary abnormalities included reflux, ureteral ectopia, bladder diverticula, bladder duplication (five), and urachal remnants (five). Uterovaginal abnormalities included duplication and partial agenesis. Anomalies were common in the upper urinary tract, spine (sacral agenesis, 20), and bony pelvis (pubic diastasis, 10). Gastrointestinal, cardiovascular, neurologic, and limb (seven) malformations were seen. Fluoroscopically monitored opacification of the cloacal components and voiding cystourethrogram were essential. Although sonography of the malformation was of limited usefulness, MR imaging seemed to be useful for evaluation of the spinal cord and pelvic musculature

Ogilvie′s syndrome following posterior spinal arthrodesis for scoliosis

Directory of Open Access Journals (Sweden)

Athanasios I Tsirikos

2013-01-01

Full Text Available We report Ogilvie′s syndrome following posterior spinal arthrodesis on a patient with thoracic and lumbar scoliosis associated with intraspinal anomalies. Postoperative paralytic ileus can commonly complicate scoliosis surgery. Ogilvie′s syndrome as a cause of abdominal distension and pain has not been reported following spinal deformity correction and can mimic post-surgical ileus. 12 year old female patient with double thoracic and lumbar scoliosis associated with Arnold-Chiari 1 malformation and syringomyelia. The patient underwent posterior spinal fusion from T 4 to L 3 with segmental pedicle screw instrumentation and autogenous iliac crest grafting. She developed abdominal distension and pain postoperatively and this deteriorated despite conservative management. Repeat ultrasounds and abdominal computer tomography scans ruled out mechanical obstruction. The clinical presentation and blood parameters excluded toxic megacolon and cecal volvulus. As the symptoms persisted, a laparotomy was performed on postoperative day 16, which demonstrated ragged tears of the colon and cecum. A right hemi-colectomy followed by ileocecal anastomosis was required. The pathological examination of surgical specimens excluded inflammatory bowel disease and vascular abnormalities. The patient made a good recovery following bowel surgery and at latest followup 3.2 years later she had no abdominal complaints and an excellent scoliosis correction. Ogilvie′s syndrome should be included in the differential diagnosis of postoperative ileus in patients developing prolonged unexplained abdominal distension and pain after scoliosis correction. Early diagnosis and instigation of conservative management can prevent major morbidity and mortality due to bowel ischemia and perforation.

Comparative review of computed tomography of the spinal column and conventional x-ray films

Energy Technology Data Exchange (ETDEWEB)

Shin, H.; Yamaura, A.; Horie, T.; Makino, H. (Chiba Univ. (Japan). School of Medicine)

1982-04-01

Computerized tomography (CT) of the cervical spinal column was carried out in 39 patients using a GE.CT/T or Toshiba TCT60A scanner. There were 22 cervical disk lesions, 4 spinal neoplasms, 5 narrow spinal canals with or without ossification of the posterior longitudinal ligament, 2 syringomyelias, 5 traumas, and one Arnold-Chiari malformation. In all the patients, tomography was done after conventional spinal X-ray studies. The correlation between the CT findings and conventional X-ray films revealed the excellent capability of the CT. The measurement of the midline sagittal diameter of the spinal canal in the patient with the narrowest canal in this series showed 7.4 mm when done by CT and 9.6 mm when done by the conventional plain film at the C/sub 5/ level. To ascertain the precise sagittal diameter of the cord itself, CT myelography is indispensable after the intrathecal injection of metrizamide A; metrizamide CT myelogram is useful in determining the nature of the disease, the risk of and best approach to surgery, and the evaluation after a surgical procedure. Although the range of motion of cervical joints and intervertebral foramen are visible with the conventional films, the size of the spinal tumors, the degree of bony change, and the tumor extension to the paraspinal connective tissue can be precisely demonstrated only by CT. A CT study of the spine is a simple procedure and is less likely to produce complication, even with a metrizamide CT myelogram, though there are certain limitations in the examination.

Genetics Home Reference: cerebral cavernous malformation

Science.gov (United States)

... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke Educational Resources (7 links) Boston Children's Hospital: Cavernous Malformations Disease InfoSearch: Cerebral Cavernous Malformation ...

Associated malformations among infants with anophthalmia and microphthalmia.

Science.gov (United States)

Stoll, Claude; Dott, Beatrice; Alembik, Yves; Roth, Marie-Paule

2012-03-01

Infants with anophthalmia and microphthalmia frequently have other associated congenital anomalies. The reported frequency and types of associated malformations vary among different studies. The purpose of this investigation was to assess the frequency and types of associated malformations among infants with anophthalmia and microphthalmia in a geographically well defined population from 1979 to 2004 of 346,831 consecutive births. Of the 87 infants with anophthalmia and microphthalmia born during this period (prevalence at birth, 2.5 per 10,000), 90% had associated malformations. Infants with associated malformation were divided into recognizable conditions (22 infants [25%] with chromosomal and 15 infants [17%] with nonchromosomal conditions), and nonrecognizable conditions (41 infants [47%] with multiple malformations). Trisomies 13 and 18 were the most frequent chromosomal abnormalities. Amniotic bands sequence, CHARGE syndrome, Meckel-Gruber syndrome, and VACTERL association were most often present in recognizable nonchromosomal conditions. Malformations in the musculoskeletal, cardiovascular, and central nervous systems were the most common other anomalies in infants with multiple malformations and nonrecognizable conditions. The frequency of associated malformations in infants with anophthalmia or microphthalmia emphasizes the need for a thorough investigation of these infants. Routine screening for other malformations-especially musculoskeletal, cardiac, and central nervous system anomalies-may need to be considered in infants with anophthalmia or microphthalmia, and referral of these infants for genetics evaluation and counseling seems warranted. Copyright © 2012 Wiley Periodicals, Inc.

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.

Subdural hematoma from a cavernous malformation.

Science.gov (United States)

Schmitt, Anne J; Mitha, Alim P; Germain, Rasha; Eschbacher, Jennifer; Spetzler, Robert F

2014-01-01

To present a case of a cavernous malformation presenting with a subdural hematoma. A 27-year-old woman was admitted with progressively worsening headache, vomiting, weakness, and word-finding difficulties 1 week after she was discharged from an outside hospital, where she was managed conservatively for a presumed traumatic subdural hematoma. Computed tomography revealed an enlarging subacute left hemispheric subdural hematoma for which she underwent drill craniostomy. Postprocedural magnetic resonance imaging showed a posterior left temporal lobe mass consistent with a cavernous malformation juxtaposed with the subdural hematoma. Craniotomy for resection of the lesion was performed. She had an uncomplicated postoperative course and experienced a good recovery. The signs and symptoms, diagnostic imaging, and intraoperative findings suggest that the subdural hematoma was caused by extralesional hemorrhage of the cavernous malformation, which is a rare finding associated with these malformations. The clinical course, radiologic, and intraoperative findings suggest that the subdural hemorrhage was caused by extralesional hemorrhage of the cavernous malformation. Copyright © 2014 Elsevier Inc. All rights reserved.

Pattern and outcome of gross congenital malformations at birth ...

African Journals Online (AJOL)

Background: Congenital malformation(s) do occur in newborns and are thought to be often responsible for a significant proportion of perinatal morbidity and mortality worldwide. Objective: This prospective study was designed to determine the pattern and outcome of congenital malformation(s) among newborn deliveries ...

Study of placenta of children born with congenital malformations.

Science.gov (United States)

Stoll, Claude; Alembik, Yves; Dott, Béatrice; Roth, Marie-Paule

2003-01-01

The malformations in this study were observed in a series of 279,642 consecutive births of known outcome registered in our Registry of congenital anomalies. For each case, more than 50 factors included in the registration forms were studied. One of the factors studied was the placenta. For each malformed child, a control was chosen. Cases with maternal known factors impairing placenta function, i.e. vasculopathy and diabetes, were excluded. In each category of malformations studied, the malformed children were divided into isolated and non-isolated (multiple malformed) cases. The weight of placenta of isolated cases was not lower than the weight of placenta of the controls. In contrast, the weight of placenta of the cases with non-isolated malformations was lower than the weight of placenta of the controls and of the isolated cases, for all categories of malformations but gastroschisis and omphalocele. The mean weights at birth of the cases with multiple malformations were also lower than those of the controls. The human placenta discounts a principal functional part, the maternal blood in the intervillous space. Congenital malformations may interact with this function.

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, ...

Multislice spiral computed tomography imaging in congenital inner ear malformations.

Science.gov (United States)

Ma, Hui; Han, Ping; Liang, Bo; Tian, Zhi-liang; Lei, Zi-qiao; Kong, Wei-jia; Feng, Gan-sheng

2008-01-01

The purpose of this study is to evaluate the usefulness of multislice spiral computed tomography (CT) in the diagnosis of congenital inner ear malformations. Forty-four patients with sensorineural hearing loss were examined on a Somatom Sensation 16 (Siemens) CT scanner. The 3-dimensional reconstructions and multiplanar reformation (MPR) were performed using the volume-rendering technique (VRT) on the workstation. Of the 44 patients examined for this study, 25 patients were found to be normal and 19 patients (36 ears) were diagnosed with congenital inner ear malformations. Of the malformations, the axial, MPR, and VRT images can all display the site and degree in 33 of the ears. Volume-rendering technique images were superior to the axial images in displaying the malformations in 3 ears with small lateral semicircular canal malformations. The common malformations were Michel deformity (1 ear), common cavity deformity (3 ears), incomplete partition I (3 ears), incomplete partition II (Mondini deformity) (5 ears), vestibular and semicircular canal malformations (14 ears), enlarged vestibular aqueduct (16 ears, 6 of which had other malformations), and internal auditory canal malformation (8 ears, all accompanied by other malformations). Multislice spiral CT allows a comprehensively assessment of various congenital inner ear malformations through high-quality MPR and VRT reconstructions. Volume-rendering technique images can display the site and degree of the malformation 3-dimensionally and intuitionisticly. This is very useful to the cochlear implantation.

Results of Chiari pelvic osteotomy for acetabular dysplasia in adults; Association with bone scintigraphic findings

Energy Technology Data Exchange (ETDEWEB)

Nakamura, Nobuo; Ozono, Kenji; Sugano, Nobuhiko; Takaoka, Kunio; Ono, Hiroo (Osaka Univ. (Japan). Faculty of Medicine)

1993-02-01

In an attempt to determine indications of Chiari pelvic osteotomy in acetabular dysplasia, postoperative outcome of hip joint (64 joints) was examined on the basis of findings of bone scintigraphy. The subjects were 61 patients with osteoarthrosis of hip joint who underwent preoperative bone scintigraphy. The follow-up period ranged from 2 years to 9 years and 7 months with a mean of 4 years and 9 months. According to X-ray findings, 37 osteoarthrosis joints were staged as early and 27 as progressive. Preoperative bone scintigraphic findings fell into three: (I) normal or slight hot type (33 joints), (II) hot type at the weighting part (16 joints), and (III) double hot type in the weighting part and inside part (15 joints). None of the patients had severe surgical complications such as deep-seated infection, neuroparalysis and pseudojoint. According to the clinical staging for hip joint function, 7 (47%) of 64 joints were judged as poor after osteotomy, belonging to type III. Deterioration of osteoarthrosis was seen in 11 joints (41%) on X-ray films. Of these, 9 had type III. In conclusion, Chiari pelvic osteotomy should not be indicated when type III is shown on bone scintigrams. (N.K.).

Human malformations induced by environmental noxae

International Nuclear Information System (INIS)

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. (MG) [de

Fever in pregnancy and the risk of congenital malformations

DEFF Research Database (Denmark)

Sass, L.; Urhoj, S. K.; Kjærgaard, J.

2017-01-01

fetal malformations or death. Fever during pregnancy, especially during embryogenesis, has also been associated with congenital malformations in human offspring. The purpose of this large cohort study of clinically recognized pregnancies was to investigate whether fever during first trimester...... was associated with an increased risk of congenital malformations in the offspring. Methods: The Danish National Birth Cohort is a population-based cohort of 100,418 pregnant women and their offspring recruited in 1996 to 2002. Information on fever during pregnancy was collected prospectively by means of two....... Congenital malformations within the first three and a half years of life were categorized according to EUROCAT's classification criteria. Logistic regression models were used to estimate the associations between fever in first trimester and overall congenital malformations and congenital malformations...

Genetics Home Reference: megalencephaly-capillary malformation syndrome

Science.gov (United States)

... Additional NIH Resources (1 link) National Institute of Neurological Disorders and Stroke: Megalencephaly Educational Resources (5 links) Boston Children's Hospital: Capillary Malformation Cincinnati Children's Hospital: Capillary Malformations ...

Arteriovenous Malformations

Science.gov (United States)

Arteriovenous malformations (AVMs) are defects in your vascular system. The vascular system includes arteries, veins, and capillaries. Arteries carry blood away from the heart to other organs; veins carry blood back to the heart. Capillaries connect the arteries and veins. An ...

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.

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.

Budd-Chiari Syndrome: Two Cases with Different Courses

Directory of Open Access Journals (Sweden)

Shinjiro Inomata

2008-08-01

Full Text Available We report two cases of Budd-Chiari syndrome. Case 1: A 57-year-old man presented with leg edema and esophageal varices. Cavography showed obstruction of the inferior vena cava with antiphospholipid syndrome. Further, the patient showed positive serology for hepatitis C virus and consumed large quantities of alcohol. Percutaneous transluminal angioplasty was performed on this patient and anticoagulants administered; leg edema and esophageal varices were ameliorated although liver biopsy showed cirrhosis without evident congestion. More than 9 months since the diagnosis, restenosis of the inferior vena cava has not occurred. Case 2: A 73-year-old woman presented abdominal pain but no edema or varices. Cavography showed membranous obstruction of the inferior vena cava which required no therapy. Manifestation of portal hypertension was not present and liver function was maintained although liver biopsy showed obvious congestion. These cases showed untypical features against histopathology, and careful observation will be required for emergence of hepatocellular carcinoma.

Facial vascular malformations in children

International Nuclear Information System (INIS)

Brunelle, F.O.; Lallemand, D.; Chaumont, P.; Teillac, D.; Manach, Y.

1988-01-01

The authors present their experience with conventional and digital angiography of vascular malformations of the head and neck in children. 22 hemangioendotheliomas, 8 venous angiomas, and 3 arteriovenous fistula were studied. 22 patients were embolised. DSA offers many advantages during the diagnostic as well as during the therapeutic phase of angiography. Embolization appears to have a major role in treatment of such vascular malformations. (orig.)

Sincipital Encephaloceles: A Study of Associated Brain Malformations

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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.

Prognostic factors of congenital diaphragmatic hernia accompanied by cardiovascular malformation.

Science.gov (United States)

Takahashi, Shigehiro; Sago, Haruhiko; Kanamori, Yutaka; Hayakawa, Masahiro; Okuyama, Hiroomi; Inamura, Noboru; Fujino, Yuji; Usui, Noriaki; Taguchi, Tomoaki

2013-08-01

Congenital diaphragmatic hernia is associated with cardiovascular malformation. Many prognostic factors have been identified for isolated congenital diaphragmatic hernia; however, reports of concurrent congenital diaphragmatic hernia and cardiovascular malformation in infants are limited. This study evaluated congenital diaphragmatic hernia associated with cardiovascular malformation in infants. Factors associated with prognosis for patients were also identified. This retrospective cohort study was based on a Japanese survey of congenital diaphragmatic hernia patients between 2006 and 2010. Frequency and outcome of cardiovascular malformation among infants with congenital diaphragmatic hernia were examined. Severity of congenital diaphragmatic hernia and cardiovascular malformation were compared as predictors of mortality and morbidity. Cardiovascular malformation was identified in 76 (12.3%) of 614 infants with congenital diaphragmatic hernia. Mild cardiovascular malformation was detected in 19 (33.9%) and severe cardiovascular malformation in 37 (66.1%). Their overall survival rate at discharge was 46.4%, and the survival rate without morbidity was 23.2%. Mortality and morbidity at discharge were more strongly associated with severity of cardiovascular malformation (adjusted OR 7.69, 95%CI 1.96-30.27; adjusted OR 7.93, 95%CI 1.76-35.79, respectively) than with severity of congenital diaphragmatic hernia. The prognosis for infants with both congenital diaphragmatic hernia and cardiovascular malformation remains poor. Severity of cardiovascular malformation is a more important predictive factor for mortality and morbidity than severity of congenital diaphragmatic hernia. © 2013 The Authors. Pediatrics International © 2013 Japan Pediatric Society.

Angiographic findings of congenital vascular malformation in soft tissue

International Nuclear Information System (INIS)

Choi, Dae Seob; Park, Jae Hyung; Han, Joon Koo; Chung, Jin Wook; Moon, Woo Kyung; Han, Man Chung

1994-01-01

We evaluated the clinical, plain radiographic, and angiographic findings of congenital vascular malformation of the soft tissue. Retrospective analysis was performed in 36 patients. Pathological diagnosis was done in 25 patients by surgery and the others were clinically and angiographically diagnosed. On the basis of angiographic findings, we classified the lesions to three groups as arteriovenous malformation (AVM), hemangioma, and venous malformation. In pathologically proven 25 cases, we compared the angiographic diagnosis with the pathologic diagnosis. By angiographic classification, AVM was 13 cases, hemangioma 16 cases, and venous malformation 7 cases. The locations of the lesions were upper extremities in 14 cases, lower extremities in 20 cases, both extremities in 1 case, and back in 1 case. Clinical findings were bruit and thrill in 13 cases(12 AVMs,1 hemangioma) and varicosities in 16 cases(11 AVMs, 3 hemangiomas and 2 venous malformations). The varicosities in AVM were pulsating nature, but not in hemangioma and venous malformation. The concordance rate of the angiographic and pathologic diagnosis was 100%(6/6) in AVM, 71%(10/14) in hemangioma and 60% (3/5) in venous malformation. We think that angiography is an essential study for accurate diagnosis and appropriate treatment of congenital vascular malformation

MR imaging of anorectal malformations and associated anomalies

International Nuclear Information System (INIS)

Nievelstein, R.A.J.; Valk, J.; Vos, A.

1998-01-01

Congenital anorectal malformations are found in many forms, and are frequently associated with other anomalies, especially of the spinal cord, spine, and urogenital system. Decisions concerning initial management of children with anorectal malformations can be made only after accurate determination of (a) the level and type of malformation, (b) the type of fistula, (c) the developmental state of the sphincter muscle complex, and (d) the presence of associated anomalies. Magnetic resonance imaging has proven to be the only modality to answer all these crucial questions, and has contributed to a better insight in the morphology and pathogenesis of such complex congenital malformations. (orig.)

Endometriosis and uterine malformations: infertility may increase severity of endometriosis.

Science.gov (United States)

Boujenah, Jeremy; Salakos, Eleonora; Pinto, Mélodie; Shore, Joanna; Sifer, Christophe; Poncelet, Christophe; Bricou, Alexandre

2017-06-01

The aim of our study was to compare the stage and severity of endometriosis in fertile and infertile women with congenital uterine malformations. We performed an observational study from September 2007 to December 2015 in a tertiary care university hospital and assisted reproductive technology center. A total of 52 patients with surgically proven uterine malformations were included. We compared 41 infertile patients with uterine malformations with 11 fertile patients with uterine malformation. The main outcome was the stage, score and type of endometriosis in regard to infertility and class of uterine malformation. The rate of endometriosis did not differ between the two groups (43.9 vs. 36.4%). The mean revised American Fertility Society score was higher in infertile patients with uterine malformations (19.02 vs. 6, p endometriosis (43.9 vs. 37.5%). Endometrioma and deep infiltrating endometriosis were associated with uterine malformations in infertile women, respectively 14.6 and 0%. No difference in the characteristics of endometriosis was found regarding the class of malformation. The association of uterine malformations and infertility may increase the severity of endometriosis and raise the issue of their diagnosis and management. © 2016 Nordic Federation of Societies of Obstetrics and Gynecology.

Transcatheter arterial embolization for congenital renal arteriovenous malformation

International Nuclear Information System (INIS)

Zhou Jun; Hu Tingyang; Yuan Jianhua; Yu Wenqiang

2008-01-01

Objective: To evaluate the effectiveness of transcatheter arterial embolization for congenital renal arteriovenous malformation. Methods: Seven cases of congenital renal arteriovenous malformation causing gross hematuria were retrospectively studied. All of 7 cases were demonstrated by means of angiography and then the catheter was placed superselectively into the involved arterial end of the malformation undertaking embolization with gelfoam, dehydrated ethanol, coils, etc. Results: All the malformations of the 7 cases were successfully embolized with stoppage of gross hematuria within 24 hours. No serious complications occurred except lumbago, fever, gastrointestinal reaction for one week. There was no recurrence of haematuria and the renal function was also normal in all cases during the follow-up for 36 to 98 months. Conclusions: Transcatheter renal arterial angiography and embolization are the important and effective management for the diagnosis and treatment of congenital renal arteriovenous malformation. (authors)

Magnetic resonance imaging in patients with progressive myelopathy following spinal surgery.

OpenAIRE

Avrahami, E; Tadmor, R; Cohn, D F

1989-01-01

Thirty one patients with insidious progressive myelopathy 2 to 8 years following surgery of the cervical spine were subjected to magnetic resonance imaging (MRI). In 15 patients operated on for vascular malformations or intramedullary tumours, syringomyelia and cystic lesions of the spinal cord were shown. Seven of these patients also showed a combination of a recurrent tumour and spinal atrophy. Out of 16 patients who had surgery for herniated disc or spinal stenosis of the cervical spine, f...

Maternal smoking in pregnancy and risk for congenital malformations

DEFF Research Database (Denmark)

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

2014-01-01

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.......e. when two or more malformations are diagnosed in a child) (odds ratio 1.06, 95% confidence interval 1.01-1.10) and various main groups of congenital malformations including the cardiovascular system (odds ratio 1.13, 95% confidence interval 1.07-1.19), the respiratory system (odds ratio 1.25, 95......% confidence interval 1.11-1.41), the digestive system (odds ratio 1.15, 95% confidence interval 1.07-1.24) and oral clefts (odds ratio 1.29, 95% confidence interval 1.14-1.46), as well as for some specific congenital malformations including cardiac septal defects, malformations of the pulmonary and tricuspid...

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.)

Congenital malformations of the external and middle ear

International Nuclear Information System (INIS)

Koesling, S.; Omenzetter, M.; Bartel-Friedrich, S.

2009-01-01

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

Anomalous facial nerve canal with cochlear malformations.

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Romo, L V; Curtin, H D

2001-05-01

Anteromedial "migration" of the first segment of the facial nerve canal has been previously identified in a patient with a non-Mondini-type cochlear malformation. In this study, several patients with the same facial nerve canal anomaly were reviewed to assess for the association and type of cochlear malformation. CT scans of the temporal bone of 15 patients with anteromedial migration of the first segment of the facial nerve canal were collected from routine departmental examinations. In seven patients, the anomalous course was bilateral, for a total of 22 cases. The migration was graded relative to normal as either mild/moderate or pronounced. The cochlea in each of these cases was examined for the presence and size of the basilar, second, and apical turns. The turns were either absent, small, normal, or enlarged. The CT scans of five patients with eight Mondini malformations were examined for comparison. The degree of the facial nerve migration was pronounced in nine cases and mild/moderate in 13. All 22 of these cases had associated cochlear abnormalities of the non-Mondini variety. These included common cavity anomalies with lack of definition between the cochlea and vestibule (five cases), cochleae with enlarged basilar turns and absent second or third turns (five cases), and cochleae with small or normal basilar turns with small or absent second or third turns (12 cases). None of the patients with Mondini-type cochlear malformations had anteromedial migration of the facial nerve canal. Anteromedial migration of the facial nerve canal occurs in association with some cochlear malformations. It did not occur in association with the Mondini malformations. A cochlea with a Mondini malformation, being similar in size to a normal cochlea, may physically prohibit such a deviation in course.

Clinical review of inner ear malformation

International Nuclear Information System (INIS)

Kokai, Hiromi; Oohashi, Masami; Ishikawa, Kazuo; Harada, Kouji; Hiratsuka, Hitoshi; Ogasawara, Makoto; Miyashita, Souji; Terayama, Yoshihiko

2003-01-01

We had 126 patients with inner ear malformation diagnosed with temporal bone computed tomography (CT) scans at Azabu Triology Hospital between 1996 and 2002. We classified cases of inner ear malformation according to Jackler et al. The incidence of inner ear malformation in our series was as follows; labyrinthine anomalies 61% (isolated lateral semicircular canal dysplasia 56%, compound semicircular canal dysplasia 4%, semicircular canal aplasia 1%), cochlear anomalies 24%, enlargement of the vestibular aqueduct 12%, narrow internal auditory canal 2%, complete labyrinthine aplasia 1%, enlargement of the cochlear aqueduct 0%. The most frequent anomaly was isolated lateral semicircular canal dysplasia. We did not detect any significant clinical features in this anomaly. There were 2 patients with cochlear anomalies who had past histories of meningitis. Some patients with enlargement of the vestibular aqueduct had frequent attacks of fluctuating hearing. Clinically it is important to detect patients with inner ear malformation such as cochlear anomalies and enlargement of the vestibular aqueduct usually accompanied by congenital sensorineural hearing loss. For patients with congenital sensorineural hearing loss, we recommend temporal bone CT scan. (author)

Congenital Vascular Malformation

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... also be effective for small, localized birthmarks (port wine stains). Patients with a rare venous malformation (Kleppel–Trenaunay Syndrome) of the limbs, frequently benefit from elastic garments and bandages used for com- ...

Interventional treatment of pulmonary arteriovenous malformations

DEFF Research Database (Denmark)

Andersen, Poul Erik; Kjeldsen, Anette Drøhse

2010-01-01

Pulmonary arteriovenous malformations (PAVM) are congenital vascular communications in the lungs. They act as right to left shunts so that the blood running through these malformations is not oxygenated or filtered. These patients are typically hypoxaemic with exercise intolerance and are at high...... risk of paradoxical emboli to the brain and other organs. These malformations are most commonly seen in hereditary haemorrhagic telangiectasia (HHT) (Mb. Osler-Weber-Rendu syndrome). Nowadays, the generally accepted treatment strategy of first choice is embolization of the afferent arteries...... the functional level. Embolization is a well-established method of treating PAVM, with a significant effect on oxygenation of the blood. Screening for PAVM in patients at risk is recommended, especially in patients with HHT....

Eye malformations in Cameroonian children: a clinical survey

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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

Ethanol sclerotherapy of peripheral venous malformations

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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.

Ethanol sclerotherapy of peripheral venous malformations

International Nuclear Information System (INIS)

Rimon, U.; Garniek, A.; Galili, Y.; Golan, G.; Bensaid, P.; Morag, B.

2004-01-01

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

Magnetic resonance imaging (MRI) of congenital cardiovascular malformations

International Nuclear Information System (INIS)

Sakakibara, Makoto; Kobayashi, Shirou; Imai, Hitoshi; Watanabe, Shigeru; Masuda, Yoshiaki; Inagaki, Yoshiaki; Morita, Huminori; Uematsu, Sadao; Arimizu, Noboru

1986-01-01

In order to determine the value of MRI in diagnosing congenital cardiovascular malformations, MR Images were obtained in 25 adult patients with congenital cardiovascular malformations. Gated MRI detected all of 13 atrial septal defects, and all of 4 ventricular septal defects, but ungated MRI detected none of 3 atrial septal defects. Other congenital cardiovascular malformations (2 with Ebstein's disease, 1 with Fallot's pentalogy, and 1 with Pulmonary stenosis) were well visualized. Vascular malformations (1 with Patent ducts arteriosus, 1 with Supravalvelar aortic stenosis, 1 with Coarctation of Aorta, 1 with Right Aortic Arch) were well visualized in all of 7 patients by ungated MRI. MRI was a valuable noninvasive method of diagnosing congenital heart disease. (author)

Arteriovenous malformation of face

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Ashok Kumar

2017-01-01

Full Text Available Arteriovenous malformations (AVMs are rare congenital vascular malformations accounting only 1.5% of all vascular anomalies with 50% occurrence in the oral and maxillofacial region. It usually results from birth defects of the vasculature. A literature search revealed only few case reports of AVMs in the facial region. Lack of meticulous diagnosis, scarcity of knowledge, and paucity of literature can result in their exsanguinations leading to fatal hemorrhagic incidents after various dental procedures such as tooth extraction, surgical intervention, puncture wound, or blunt injury in involved area. The present case describes the accidental diagnosis of asymptomatic high-flow AVMs in the facial region of pediatric patient reported primarily for the treatment of periapical abscess. This case report is unique because although there was no history of bleeding episodes, thorough examination and investigations diagnosed it as high-flow vascular malformation. It is important for the dental practitioner to be aware of AVM which may be present in the head and neck region that can produce fatal bleeding episodes during various dental procedures. Proper diagnosis of AVMs through complete history, precise clinical examination, and advanced imaging modalities can help in preventing serious life-threatening complications.

The presentation and management of complex female genital malformations.

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Acién, Pedro; Acién, Maribel

2016-01-01

Common uterine anomalies are important owing to their impact on fertility, and complex mesonephric anomalies and certain Müllerian malformations are particularly important because they cause serious clinical symptoms and affect woman's quality of life, in addition to creating fertility problems. In these cases of complex female genital tract malformations, a correct diagnosis is essential to avoid inappropriate and/or unnecessary surgery. Therefore, acquiring and applying the appropriate embryological knowledge, management and therapy is a challenge for gynaecologists. Here, we considered complex malformations to be obstructive anomalies and/or those associated with cloacal and urogenital sinus anomalies, urinary and/or extragenital anomalies, or other clinical implications or symptoms creating a difficult differential diagnosis. A diligent and comprehensive search of PubMed and Scopus was performed for all studies published from 1 January 2011 to 15 April 2015 (then updated up to September 2015) using the following search terms: 'management' in combination with either 'female genital malformations' or 'female genital tract anomalies' or 'Müllerian anomalies'. The MeSH terms 'renal agenesis', 'hydrocolpos', 'obstructed hemivagina' 'cervicovaginal agenesis or atresia', 'vaginal agenesis or atresia', 'Herlyn-Werner-Wunderlich syndrome', 'uterine duplication' and 'cloacal anomalies' were also used to compile a list of all publications containing these terms since 2011. The basic embryological considerations for understanding female genitourinary malformations were also revealed. Based on our experience and the updated literature review, we studied the definition and classification of the complex malformations, and we analysed the clinical presentation and different therapeutic strategies for each anomaly, including the embryological and clinical classification of female genitourinary malformations. From 755 search retrieved references, 230 articles were analysed and

Arteriovenous malformation of the mandible

International Nuclear Information System (INIS)

Kim, Dong Youn; Lee, Kang Sook; Choi, Karp Shik

1995-01-01

The arteriovenous malformation, an uncommon lesion, is a direct communication between an artery and a vein that bypasses the intervening capillary bed. The authors experienced two cases of arteriovenous malformation in 17-year-old and 18-year-old female patients who had suffered from mandibular pain and gingival bleeding. As a result of careful analysis of clinical and angiographic radiological examinations, we diagnosed them as arteriovenous malformations. The following result were obtained; 1. Main clinical symptoms were dull pain and gingival bleeding on the mandibular body area and redness, pain on palpitation in the lesional sites were also observed. 2. Radiographically, well-defined radiolucent lesions with multiple osteolytic defects were observed. In radionuclide scan, increased uptakes of radioisotope were observed in the lesional sites. 3. Increased venous shunt supplied by the facial, lingual and inferior alveolar arteries was observed in angiography. After embolotherapy was performed, no recurrence was reported during 3 to 6 months follow up.

MR findings of congenital anorectal malformation

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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.

MR findings of congenital anorectal malformation

International Nuclear Information System (INIS)

Kim, Yoo Kyung; Kim, Hyae Young; Kwag, Hyon Joo; Chung, Eun Chul; Lee, Jung Sik; Suh, Jeong Soo

1995-01-01

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

A case of pancreatic AV malformation in an elderly man.

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Gupta, Vipin; Kedia, Saurabh; Sonika, Ujjwal; Madhusudhan, Kumble Seetharama; Pal, Sujoy; Garg, Pramod

2018-06-01

A 60-year-old man presented with recurrent abdominal pain and weight loss for 6 months. Abdominal imaging showed a large vascular lesion in the head and neck of pancreas suggestive of arteriovenous malformation (AV malformation). Endoscopic ultrasound was done which showed features of AV malformation with no evidence of pancreatic malignancy. Surgery was planned for definitive treatment of malformation. Digital subtraction angiography with angioembolization was done prior to surgery to reduce vascularity of the lesion. He recovered after a pylorus preserving pancreaticoduodenectomy. Histopathology of the resected specimen confirmed the pancreatic AV malformation. There has been no recurrence at 2 years of follow-up.

Congenital vascular malformations in scintigraphic evaluation

International Nuclear Information System (INIS)

Pilecki, Stanisław; Gierach, Marcin; Gierach, Joanna; Świętaszczyk, Cyprian; Junik, Roman; Lasek, Władysław

2014-01-01

Congenital vascular malformations are tumour-like, non-neoplastic lesions caused by disorders of vascular tissue morphogenesis. They are characterised by a normal cell replacement cycle throughout all growth phases and do not undergo spontaneous involution. Here we present a scintigraphic image of familial congenital vascular malformations in two sisters. A 17-years-old young woman with a history of multiple hospitalisations for foci of vascular anomalies appearing progressively in the upper and lower right limbs, chest wall and spleen. A Parkes Weber syndrome was diagnosed based on the clinical picture. Due to the occurrence of new foci of malformations, a whole-body scintigraphic examination was performed. A 12-years-old girl reported a lump in the right lower limb present for approximately 2 years, which was clinically identified as a vascular lesion in the area of calcaneus and talus. Phleboscintigraphy visualized normal radiomarker outflow from the feet via the deep venous system, also observed in the superficial venous system once the tourniquets were released. In static and whole-body examinations vascular malformations were visualised in the area of the medial cuneiform, navicular and talus bones of the left foot, as well as in the projection of right calcaneus and above the right talocrural joint. People with undiagnosed disorders related to the presence of vascular malformations should undergo periodic follow-up to identify lesions that may be the cause of potentially serious complications and to assess the results of treatment. Presented scintigraphic methods may be used for both diagnosing and monitoring of disease progression

Pattern of Gross Congenital Malformations in a Tertiary Referral Hospital in Northeast India.

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Baruah, Jenita; Kusre, Giriraj; Bora, Reeta

2015-10-01

To explore the prevalence of structural congenital malformations among newborns and study some of the fetal and maternal characteristics of the malformed babies in North east India where such systematic study on congenital malformation has not been undertaken before. A cross sectional study was undertaken from May 2010 through Feb 2013 for estimation of gross congenital malformations among live birth and stillbirth children born in Assam Medical College. All live births were clinically examined for detection of gross congenital malformations and autopsy was carried out on still births and neonates dying within 24 h of birth to detect gross congenital malformations in the internal organs. All malformations were classified as per ICD 10 classification. The mothers of the newborns with congenital malformations were interviewed in a predesigned, pretested proforma. The variables included maternal age, antenatal registration, antenatal history of drug intake, consanguinity and previous history of malformations. Statistical analysis was done using chi square test. A total 18,192 births including live births and still births were examined and 206 cases of structural malformations were observed. Prevalence of congenital malformations was 1.2 % of the total live births. Distribution of malformation was predominant among males than in females (60.67 vs. 37.37 %; p malformation of the cardiovascular system was found to be very low. Malformations among stillbirths and newborns born to unregistered mothers were significantly more. Percentage of malformations in babies born to mothers of more than 30 y of age was higher than other age groups (2.2 %). Occurrence of malformations in low birth weight babies were significantly more (p malformations was 1.2 % of the total live births. Musculoskeletal system was the most common system involved. Congenital malformations were significantly associated with sex of the new born, registration of the mother and birth weight of the

Fetal chromosome abnormalities and congenital malformations: an ...

African Journals Online (AJOL)

The results also showed that Multiple congenital anomalies (MCA) represented among 42.2%, congenital malformation of CNS represents 26.6%, congenital malformation of the skeletal system 20%, congenital polycystic kidney 8.8% and pyloric stenosis in 2.2%. Among the 21 women with abnormal karyotype of amniotic ...

Congenital malformations among newborns in Kenya | Muga ...

African Journals Online (AJOL)

Therefore, a study was conducted to determine the patterns and incidence of congenital malformations at birth in newborns in Kenya and thereby analyze associated predisposing factors in their mothers. This single cross-sectional ... followed by malformations of the central nervous system (28.6%). Polydactyl was the most ...

Field guide to malformations of frogs and toads: with radiographic interpretations

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Meteyer, Carol U.

2000-01-01

In 1995, students found numerous malformed frogs on a field trip to a Minnesota pond. Since that time, reports of malformed frogs have increased dramatically. Malformed frogs have now been reported in 44 states in 38 species of frogs, and 19 species of toads. Estimates as high as 60% of the newly metamorphosed frog populations have had malformations at some ponds (NARCAM, ’99). The wide geographic distribution of malformed frogs and the variety of malformations are a concern to resource managers, research scientists and public health officials. The potential for malformations to serve as a signal of ecosystem disruption, and the affect this potential disruption might have on other organisms that share those ecosystems, has not been resolved. Malformations represent an error that occurred early in development. The event that caused the developmental error is temporally distant from the malformation we see in the fully developed animal. Knowledge of normal developmental principles is necessary to design thoughtful investigations that will define the events involved in abnormal development in wild frog populations.Development begins at the time an egg is fertilized and progresses by chemical communication between cells and cell layers. This communication is programmed through gene expression. Malformations represent primary errors in development, errors in chemical communication or translation of genetic information. Deformations arise later in development and usually result from the influence of mechanical factors (such as amputation) that alter shape or anatomy of a structure that has developed normally. The occurrence and the type of malformations are influenced by the type of error or insult as well as the timing of the error (the developmental stage at which the error occurred). The appearance of the malformation can therefore provide clues that suggest when the error may have occurred. If the malformation is an incomplete organ, such as an incomplete limb, the

Pericardial tamponade complicated by interventional management for Budd-Chiari syndrome: clinical analysis and treatment

International Nuclear Information System (INIS)

Zhang Luxi; Zu Maoheng; Wu Jinping; Xu Hao; Jiao Xudong; Chen Zhengkan

2011-01-01

Objective: To discuss the cases and treatment of pericardial tamponade (PT) occurred in the interventional management for Budd-Chiari syndrome (BCS). Methods: During the period from 1990 to 2006, interventional treatment was performed in 812 patients with BCS. Pericardial tamponade occurred in nine patients during the period of interventional treatment. The clinical data, including angiographic findings, clinical symptoms, management and outcomes, of the nine patients were retrospectively analyzed. The possible causes of pericardial tamponade were discussed. Results: Of the nine patients occurring pericardial tamponade, successful treatment was obtained in eight and death occurred in one. The lesions of BCS in the nine cases included inferior vena cava obstruction type (n=7), hepatic venous obstruction type (n=1) and mixed type (n=1). Pericardial tamponade was caused by mistakenly puncturing into pericardium (n=5), mistakenly puncturing together with laceration of pericardium by balloon (n=3), and breaking of pericardium by displaced stent (n=1). Conventional pericardicentesis was employed in one case, surgery was carried out in three cases, and infra-xiphoid catheterization and drainage using Seldinger technique was performed in two cases. Conservative treatment was adopted in one case and aspiration through the wrongly inserted catheter was tried in one case. In the remaining one case, aspiration through the wrongly inserted catheter together with infra-xiphoid catheterization and drainage by using Seldinger technique was carried out. Conclusion: The pericardial tamponade is an severe complication occurred in the interventional management for Budd-Chiari syndrome, although it is rarely seen. Preoperative prevention, prompt detection and rational treatment are the keys avoid serious consequences. (authors)

Abernethy malformation: a case report

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Pathak Ashish

2012-05-01

Full Text Available Abstract Background Abernethy malformation is a very rare congenital vascular malformation defined by diversion of portal blood away from liver. It is commonly associated with multiple congenital anomalies. We present a case of Abernethy malformation, without associated congenital anomalies from India. Case presentation A 5-year-old female child presented with short history of jaundice. A provisional diagnosis of acute viral hepatitis was made in view of clinical presentation and local endemicity of viral hepatitis A. Persistence of jaundice on follow up after 4 weeks led to detailed investigations. Ultrasound and doppler study of abdomen revealed drainage of portal vein into inferior vena cava. CT angiography was performed which confirmed the diagnosis of Type 1 b Abernethy malformation without associated major anomalies. We discuss the common clinical presentations, associated anomalies, diagnostic workup and treatment options of this disorder. Conclusion The treatment of the patients with congenital porto-systemic shunts depends on the site of the shunt, associated congenital anomalies and the extent of liver damage but the prognosis depends on the complications irrespective of anatomical type. However, the extent of associated abnormalities should not deter paediatricians to refer patients for treatment. Whenever possible closure of the shunt should be advised for cure or to prevent complications. Only symptomatic type I patients with absence of possibility to close the shunt may require liver transplant. Long-term follow-up is indicated for all patients.

Cerebral and spinal MR-findings in patients with postrepair myelomeningocele

International Nuclear Information System (INIS)

Just, M.; Thelen, M.; Ludwig, B.

1990-01-01

In 114 patients with postrepair myelomeningocele MRI of the spine was performed. Tethered cord (89%) and associated malformations (syrinx, lipoma etc.) (33%) were the most important findings. Additional MRI scans of the head (44 patients) revealed numerous further anomalies. Arnold Chiari malformation was found in 76% of the patients (ACM I: 32%, ACM II: 44%). In the ACM II group compression of lower cranial nerves, brain stem, and cerebellum can lead to considerable neurologic symptoms. Therefore in patients with progressive neurologic dysfunction a complete investigation of the whole spine and brain is necessary. MRI proves to be the diagnostic procedure of choice in patients with dysraphic myelodysplasia. (orig.)

Contribution of Rare Copy Number Variants to Isolated Human Malformations

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Serra-Juhé, Clara; Rodríguez-Santiago, Benjamín; Cuscó, Ivon; Vendrell, Teresa; Camats, Núria; Torán, Núria; Pérez-Jurado, Luis A.

2012-01-01

Background Congenital malformations are present in approximately 2–3% of liveborn babies and 20% of stillborn fetuses. The mechanisms underlying the majority of sporadic and isolated congenital malformations are poorly understood, although it is hypothesized that the accumulation of rare genetic, genomic and epigenetic variants converge to deregulate developmental networks. Methodology/Principal Findings We selected samples from 95 fetuses with congenital malformations not ascribed to a specific syndrome (68 with isolated malformations, 27 with multiple malformations). Karyotyping and Multiplex Ligation-dependent Probe Amplification (MLPA) discarded recurrent genomic and cytogenetic rearrangements. DNA extracted from the affected tissue (46%) or from lung or liver (54%) was analyzed by molecular karyotyping. Validations and inheritance were obtained by MLPA. We identified 22 rare copy number variants (CNV) [>100 kb, either absent (n = 7) or very uncommon (n = 15, malformations (21%), including 11 deletions and 11 duplications. One of the 9 tested rearrangements was de novo while the remaining were inherited from a healthy parent. The highest frequency was observed in fetuses with heart hypoplasia (8/17, 62.5%), with two events previously related with the phenotype. Double events hitting candidate genes were detected in two samples with brain malformations. Globally, the burden of deletions was significantly higher in fetuses with malformations compared to controls. Conclusions/Significance Our data reveal a significant contribution of rare deletion-type CNV, mostly inherited but also de novo, to human congenital malformations, especially heart hypoplasia, and reinforce the hypothesis of a multifactorial etiology in most cases. PMID:23056206

Skeletal malformations in fetuses with Meckel syndrome

DEFF Research Database (Denmark)

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

1999-01-01

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...

Perinatal outcome of obvious congenital malformation as seen at the ...

African Journals Online (AJOL)

Gastrointestinal, central nervous and musculo-skeletal system malformations were the commonest seen with individual incidences of 3.9, 3.5 and 2.1 per 1000 total births, respectively. Unclassified congenital malformations had the highest case fatality while central nervous system malformations constituted the commonest ...

Common congenital malformations of the brain

International Nuclear Information System (INIS)

Naidich, T.P.; Zimmerman, R.A.

1987-01-01

In nearly all cases, congenital malformations are characterized most easily by their anatomic features and are best images with T1-weighted short TR/short TE pulse sequences. T2-weighted, long TR/long TE images are used primarily for the phakomatoses that are commonly associated with brain tumors. This chapter reviews the features of the most common congenital malformations and illustrates their typical magnetic resonance imaging (MRI) appearance

Surgical experience with arteriovenous malformations of the brain

International Nuclear Information System (INIS)

Stein, B.M.

1984-01-01

Personal experience with the treatment of 200 arteriovenous malformations of the brain seen during the past decade is presented. One hundred and twenty of these patients underwent surgery, with a mortality of 1,7%. The morbidity rate of 10% includes cases of hemianopia after occipital malformations had been removed. Significant morbidity, including aphasia, hemiparesis and hemisensory loss, occurred in under 10% of cases. Computerized tomography plays an important role in determining the relationships of the arteriovenous malformations to associated structures such as the ventricular system

The budd-Chiari syndrome in a child: a case report and review of the literature.

Science.gov (United States)

Misra, Vatsala; Verma, Kachnar; Singh, Dharmendra Kumar; Misra, Sri Prakash

2012-12-01

The Budd-Chiari Syndrome is associated with hepatic venous outflow obstruction. This syndrome is rare in infants and children. As this syndrome is uncommon, especially in the paediatric age group, misdiagnoses and delays in the diagnosis are frequent. A high index of clinical suspicion along with a radiological aid and a histopathological correlation can lead to an early diagnosis and an appropriate management in such cases.This case report highlights the occurrence of this rare condition in the paediatric age group as well as it redefines the salient features of this syndrome.

Congenital Malformations in Neonates after irradiation of Rats During Pregnancy

International Nuclear Information System (INIS)

Abdel-Gawad, I.I.; Mohammad, M.H.M.

2000-01-01

Radiation is considered a teratogen during the whole period of embryonic development and fetal growth. However, the time of gestation at which irradiation takes place will affect the type of congenital malformation Induced. A study was carried out to observe various forms of congenital malformations induced after irradiation of pregnant rats to 1,2 and 3 Gy on the 9 th , 12 th and 15 th days of gestation. Various types of congenital malformations were observed in the neonates of irradiated animals as compared to controls. Most of the malformations were observed in neonates of animals irradiated with 2 and 3 Gy on the 12 th and 15 th days of gestation. This confirms that developmental anomalies occur mostly during the period of organ development. Other periods of gestation are less vulnerable to, induction of malformation after irradiation. Some representative photographs of the malformations induced such as penguin shape, absence of tail, low set ears, growth retardation and others are illustrated in the text

[Diagnostic value of high-resolution computed tomography imaging in congenital inner ear malformations].

Science.gov (United States)

Sun, Xiaowei; Ding, Yuanping; Zhang, Jianji; Chen, Ying; Xu, Anting; Dou, Fenfen; Zhang, Zihe

2007-02-01

To observe the inner ear structure with volume rendering (VR) reconstruction and to evaluate the role of high-resolution computed tomography (HRCT) in congenital inner ear malformations. HRCT scanning was performed in 10 patients (20 ears) without ear disease (control group) and 7 patients (11 ears) with inner ear malformations (IEM group) and the original data was processed with VR reconstruction. The inner ear osseous labyrinth structure in the images generated by these techniques was observed respectively in the normal ears and malformation ears. The inner ear osseous labyrinth structure and the relationship was displayed clearly in VR imaging in the control group,meanwhile, characters and degree of malformed structure were also displayed clearly in the IEA group. Of seven patients (11 ears) with congenital inner ear malformations, the axial, MPR and VR images can display the site and degree in 9 ears. VR images were superior to the axial images in displaying the malformations in 2 ears with the small lateral semicircular canal malformations. The malformations included Mondini deformity (7 ears), vestibular and semicircular canal malformations (3 ears), vestibular aqueduct dilate (7 ears, of which 6 ears accompanied by other malformations) , the internal auditory canal malformation (2 ears, all accompanied by other malformations). HRCT can display the normal structure of bone inner ear through high quality VR reconstructions. VR images can also display the site and degree of the malformations three-dimensionally and intuitively. HRCT is valuable in diagnosing the inner ear malformation.

Congenital spinal malformations; Kongenitale spinale Malformationen

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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.)

Therapies for neonates with congenital malformations admitted to a neonatal unit

Directory of Open Access Journals (Sweden)

Maria Vera Lúcia Moreira Leitão Cardoso

2015-03-01

Full Text Available The aim of this study was to characterize the treatments applied to newborns with congenital malformation hospitalized in a neonatal unit and to identify whether there is an association among the treatments used and the type of malformation. A descriptive, prospective and quantitative study was developed in a public institution in Fortaleza, Ceará, Brazil. Data were collected using the medical records of 30 neonates with congenital malformations. The incidence of malformations was higher among females, regardless of the mother’s age, gestational age or weight at birth; malformations of the central nervous and musculoskeletal systems prevailed. The treatments used varied according to the clinical evolution of the neonate. The data collected did not present statistical significance when associated with the variable of congenital malformation and the treatments used (p>0.05. The treatments are not directly related to the type of malformation, but to the clinical condition of the neonate.

Vascular malformations in pediatrics; Vaskulaere Erkrankungen bei Neugeborenen, Saeuglingen und Kindern

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Reith, W. [Abteilung fuer Neuroradiologie, Radiologische Universitaetsklinik Homburg/Saar (Germany); Abteilung fuer Neuroradiologie, Radiologische Universitaetsklinik, 66421, Homburg/Saar (Germany); Shamdeen, M.G. [Kinderklinik, Universitaetsklinikum Homburg/Saar (Germany)

2003-11-01

Vascular malformations are the cause of nearly all non-traumatic intracranial hemorrhage in children beyond the neonatal stage. Therefore, any child presenting with spontaneous intracranial hemorrhage should be evaluated for child abuse and for vascular malformations. Intracerebral malformations of the cerebral vasculature include vein of Galen malformations, arteriovenous malformation (AVM), cavernomas, dural arteriovenous fistulas, venous anomalies (DVA), and capillary teleangiectasies. Although a few familial vascular malformation have been reported, the majority are sporadic. Clinical symptoms, diagnostic and therapeutic options are discussed. (orig.) [German] Vaskulaere Malformationen sind die haeufigste Ursache einer intrakraniellen Blutung im Saeuglings- und Kindesalter. Deswegen sollte jedes Kind mit einer intrakraniellen Blutung auf eine vaskulaere Malformation und Kindesmisshandlung untersucht werden. Intrazerebrale Gefaessmalformationen beinhalten Vena-Galeni-Anomalien, arteriovenoese Malformationen (AVM), Kavernome, durale arteriovenoese Fisteln, kapillaere Teleangiektasien und venoese Anlagevarianten (DVA). Obwohl einige familiaere Gefaessmalformationen beschrieben sind, tritt die ueberwiegende Mehrzahl spontan auf. Die Klinik, Diagnostik und therapeutischen Optionen werden diskutiert. (orig.)

[Diagnosis and management of Mondini malformation].

Science.gov (United States)

Yang, W; Fang, Y; Yang, S

1997-02-01

Owing to the development of imaging technology and audiology, some of the sensorineural hearing loss cases that were previcusly considered to be of unknown cause have been found to be inner ear malformation. Five cases of Mondini malformation are reviewed in this paper. CSF otorhinorrhea occurred in four cases, Klippel-Feil syndrome in three, and concurrent otosclerosis in one patient. In discussion, the authors point out that: 1) CT scanning is an supplement to audiologic tests for such patients; 2) perilymph fistula in Mondini malformation is often found at the oval window and its vicinity, the foot plate and the round window; 3) the fistula can be treated by plugging with fascial tissue via tympanoplastic approach with endaural incision. The mucosa around the fistula should be stripped away and the plugging tissue should be of dumb-bell shape.

First report of microcephaly-capillary malformations syndrome in ...

African Journals Online (AJOL)

Background: Microcephaly-capillary malformation (MIC-CAP) syndrome is a newly described autosomal recessive syndrome characterized by microcephaly, multiple cutaneous capillary malformations, intractable epilepsy and profound developmental delay. We present the first description of MIC-CAP syndrome in Russia.

Anaesthetic management of a child with massive extracranial arteriovenous malformation

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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.

Lamb congenital lymphatic malformation - a case report

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Neria Santos

2014-01-01

Full Text Available Lymphatic malformations have been rarely reported in literature either in humans or in animals. However, in recent years, concern about these malformations in humans has increased. A five-month-old Rasa Aragonesa male lamb was received at the Ovine Clinical Service of the Veterinary Faculty of Zaragoza, Spain, with a history of cervical protuberances coming from birth. The lamb showed three round swollen lumps (5–12 cm in diameter parallel to the trachea on the left side of the neck. Clinical examination, haematology, ultrasonography, fluid examination and histopathology were performed. No abnormalities were found in blood samples and ultrasound confirmed a multicystic lesion with internal separations. Histological evaluation of the tissue revealed dilated lymphatic vessels and channels in the dermis and hypodermis; some lymphatic vessels were filled with amorphous proteinaceous material and occasional lymphocytes and macrophages. These protuberances were diagnosed as congenital lymphatic malformations. Most of the gross and microscopical lesions were very similar to those described in humans. To the authors’ knowledge, this is the first time that a congenital lymphatic malformation is described in sheep.

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 va...... 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.......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...

Mortality among infants with congenital malformations, New York State, 1983 to 1988.

Science.gov (United States)

Druschel, C; Hughes, J P; Olsen, C

1996-01-01

OBJECTIVE. The authors examined first-year mortality and risk factors for mortality among infants with major congenital malformations. METHODS. Infants with major congenital malformations born from 1983 to 1988 were identified from a statewide population-based congenital malformations registry. Variables analyzed included year of birth, birth weight, gestational age, infant sex, number of malformations, number of organ systems involved, level of care of the birth hospital, maternal age, maternal education, and maternal ethnicity. RESULTS. Infants with major malformations had a risk of death 6.3 times higher than the general population of live births. The risk declined from 6.5 in 1983 to 5.9 in 1988. Birth weight and number of malformations were the strongest risk factors. The likelihood of survival was similar for white and black infants. CONCLUSIONS. Being born with a malformation outweighs most of the other risks for infant mortality. Children with congenital malformations had higher cause-specific mortality for all causes except injury. PMID:8711105

Detecting congenital malformations - Lessons learned from the Mpepu study, Botswana.

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Gbolahan Ajibola

Full Text Available A large and increasing number of HIV-infected women are conceiving on antiretroviral treatment (ART. While most antiretrovirals are considered safe in pregnancy, monitoring for rare pregnancy and infant adverse outcomes is warranted.We conducted a retrospective secondary analysis nested within a clinical trial of infant cotrimoxazole vs. placebo prophylaxis in Botswana (the Mpepu Study. Infants were examined at birth, and at least every 3 months through 18 months of age. Abnormal physical findings and diagnostic testing revealing malformations were documented. Post hoc, a geneticist classified all reported malformations based on available documentation. Structural malformations with surgical, medical or cosmetic importance were classified as major malformations. We present a descriptive analysis of identified malformations.Between 2011 and 2014, 2,933 HIV-infected women who enrolled in the Mpepu study delivered 2,971 live-born infants. Study staff conducted 2,944 (99% newborn exams. One thousand eighty-eight (38% women were taking ART at conception; 1,147 (40% started ART during pregnancy; 442 (15% received zidovudine monotherapy; and 223 (7% received no antiretroviral during pregnancy. Of 33 reported anomalies, 25 (76% met congenital malformations criteria, 10 (30% were classified as major malformations, 4 (40% of which were identified after the birth exam.Our results highlight the importance of staff training on identification of congenital malformations, programmatic monitoring beyond the birth examination and the value of geneticist involvement in the malformations classification process in resource-limited settings. These elements will be important to fully define antiretroviral drug safety in pregnancy.Surveillance systems for monitoring the safety of antiretroviral use during pregnancy among HIV-infected women in resource-limited setting are lacking. The World Health Organization's published programmatic recommendations for such

Arteriovenous Malformation of the Pancreas

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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.

Clinical and Genetic Studies in Inherited Cardiovascular Malformations

NARCIS (Netherlands)

I.M.B.H. van de Laar (Ingrid)

2012-01-01

textabstractCardiovascular malformations comprise a broad spectrum of anomalies of the heart and blood vessels, including congenital heart malformations (CHM) and aortic aneurysms, the two main topics of this thesis. These conditions lead to significant morbidity and mortality both in infancy and

Congenital pseudoarthrosis associated with venous malformation

International Nuclear Information System (INIS)

Al-Hadidy, A.; Haroun, A.; Al-Ryalat, N.; Hamamy, H.; Al-Hadidi, S.

2007-01-01

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.)

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.)

Angiotensin-Converting Enzyme Inhibitors and the Risk of Congenital Malformations.

Science.gov (United States)

Bateman, Brian T; Patorno, Elisabetta; Desai, Rishi J; Seely, Ellen W; Mogun, Helen; Dejene, Sara Z; Fischer, Michael A; Friedman, Alexander M; Hernandez-Diaz, Sonia; Huybrechts, Krista F

2017-01-01

To examine the association between first-trimester angiotensin-converting enzyme (ACE) inhibitor exposure and the risk of overall major congenital, cardiac, and central nervous system malformations. We used a cohort of completed pregnancies linked to liveborn neonates derived from Medicaid claims from 2000 to 2010. We examined the risk of malformations associated with first-trimester exposure to an ACE inhibitor. Propensity score-based methods were used to control for potential confounders including maternal demographics, medical conditions, exposure to other medications, and measures of health care utilization. The cohort included 1,333,624 pregnancies, of which 4,107 (0.31%) were exposed to ACE inhibitors during the first trimester. The prevalence of overall malformations in the ACE inhibitor-exposed pregnancies was 5.9% compared with 3.3% in the unexposed (unadjusted relative risk, 1.82; 95% confidence interval [CI] 1.61-2.06), of cardiac malformations was 3.4% compared with 1.2% (relative risk 2.95, 95% CI 2.50-3.47), and of central nervous system malformations was 0.27% compared with 0.18% (relative risk 1.46, 95% CI 0.81-2.64). After restricting the cohort to pregnancies complicated by chronic hypertension (both exposed and unexposed) and accounting for other confounding factors, there was no significant increase in the risk of any of the outcomes assessed. Relative risks associated with first-trimester ACE inhibitor exposure were 0.89 (95% CI 0.75-1.06) for overall malformations, 0.95 (95% CI 0.75-1.21) for cardiac malformations, and 0.54 (95% CI 0.26-1.11) for CNS malformations. After accounting for confounders, among women with hypertension, exposure to ACE inhibitors during the first trimester was not associated with an increased risk of major congenital malformations.

Congenital malformations in infants born after in vitro fertilization in Sweden.

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Källén, Bengt; Finnström, Orvar; Lindam, Anna; Nilsson, Emma; Nygren, Karl-Gösta; Otterblad, Petra Olausson

2010-03-01

The risk for congenital malformations is increased in infants born after in vitro fertilization (IVF). Some specific malformations appear to be more affected than others. The presence of congenital malformations in 15,570 infants born after IVF with an embryo transfer between April 1, 2001, and the end of 2006 were compared with all infants born in Sweden during 2001 to 2007 (n = 689,157). Risk estimates were made after adjusting for year of birth, maternal age, parity, smoking, and body mass index. The risks of specific malformations were compared with data from a previous study (1982 to March 31, 2001) of 16,280 infants born after IVF. Different IVF methods were compared to respect to malformation risk. Increased risks of a similar magnitude were found for most cardiovascular malformations and limb reduction defects for both study periods. For neural tube defects, cardiac septal defects, and esophageal atresia, there was still an increased risk, but it was lower during the second than during the first period. For small bowel atresia, anal atresia, and hypospadias, the risk increase observed during the first study period had disappeared during the second period. An increased risk was seen for some syndromes that have been associated with imprinting errors. No difference in malformation risk according to IVF method was apparent. A slightly increased risk for congenital malformations after IVF persists. A decreasing risk is seen for some specific malformations, either true or the result of multiple testing. Copyright 2010 Wiley-Liss, Inc.

Agenesis of the internal carotid artery with a trans-sellar anastomosis: CT and MRI findings in late-onset congenital hypopituitarism

International Nuclear Information System (INIS)

Mellado, J.M.; Merino, X.; Ramos, A.; Salvado, E.; Sauri, A.

2001-01-01

A 29-year-old woman with a history of hypothyroidism since early childhood developed hypopituitarism. CT and MRI revealed anterior pituitary hypoplasia, an ectopic posterior lobe, a Chiari I malformation and agenesis of the right internal carotid artery with a trans-sellar anastomosis. This constellation of findings constitutes a previously unreported association in congenital hypopituitarism of late onset. The usefulness of imaging modalities and the pathogenic implications are also discussed. (orig.)

Radiographic characteristics in congenital scoliosis associated with split cord malformation: a retrospective study of 266 surgical cases.

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Feng, Fan; Tan, Haining; Li, Xingye; Chen, Chong; Li, Zheng; Zhang, Jianguo; Shen, Jianxiong

2017-10-23

Vertebrae, ribs, and spinal cord are anatomically adjacent structures, and their close relationships are clinically important for planning better corrective surgical approach. The objective is to identify the radiographic characteristics in surgical patients with congenital scoliosis (CS) and coexisting split cord malformation (SCM). A total of 266 patients with CS and SCM underwent surgical treatment at our hospital between May 2000 and December 2015 was retrospectively identified. The demographic distribution and radiographic data were collected to investigate the characteristics of spine curve, vertebral, rib, and intraspinal anomalies. According to Pang's classification, all patients were divided into two groups: type I group is defined as two hemicords, each within a separate dural tube separated by a bony or cartilaginous medial spur, while type II group is defined as two hemicords within a single dural tube separated by a nonrigid fibrous septum. There were 104 patients (39.1%) in Type I group and 162 patients (60.9%) in Type II group. SCM was most commonly found in the lower thoracic and lumbar regions. The mean length of the septum in Type I SCM was significantly shorter than Type II SCM (2.7 vs. 5.2 segments). Patients in Type I group had a higher proportion of kyphotic deformity (22.1%). The vertebral deformities were simple in only 16.5% and multiple in 83.5% of 266 cases. Patients in Type I group presented higher prevalence of multiple (90.4%) and extensive (5.1 segments) malformation of vertebrae. In addition, hypertrophic lamina and bulbous spinous processes were more frequent in Type I group (29.7%), even developing into the "volcano-shape" deformities. Rib anomalies occurred in 62.8% of all patients and 46.1% of them were complex anomalies. The overall prevalence of other intraspinal anomalies was 42.9%. The most common coexisting intraspinal anomalies was syringomyelia (30.5%). The current study, with the largest cohort to date, demonstrated that

Congenital cystic lung malformations

International Nuclear Information System (INIS)

Stoever, B.; Scheer, I.; Bassir, C.; Chaoui, R.; Henrich, W.; Schwabe, M.; Wauer, R.

2006-01-01

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.)

Liver transplantation in a patient with primary antiphospholipid syndrome and Budd-Chiari syndrome

Science.gov (United States)

Reshetnyak, Tatiana M; Seredavkina, Natalia V; Satybaldyeva, Maria A; Nasonov, Evgeniy L; Reshetnyak, Vasiliy I

2015-01-01

The antiphospholipid syndrome (APS) is an acquired thrombophilic disorder in which autoantibodies are produced to a variety of phospholipids determinants of cell membranes or phospholipid binding proteins. There are few reports about association between antiphospholipid antibodies and development of Budd-Chiari syndrome (BCS). We report the case of BCS development in young Russian male with primary APS. The patient underwent orthotopic liver transplantation on August 26, 2012. At present time his state is good, the blood flow in the liver restored and its function is not impaired. We report about the first time the successful use of dabigatran etexilate for prolonged anticoagulation therapy in APS patient with BCS. In addition patient is managed with immunosuppressive drugs. PMID:26380049

Meningitis after cochlear implantation in Mondini malformation.

Science.gov (United States)

Page, E L; Eby, T L

1997-01-01

Although the potential for CSF leakage and subsequent meningitis after cochlear implantation in the malformed cochlea has been recognized, this complication has not been previously reported. We report a case of CSF otorhinorrhea and meningitis after minor head trauma developing 2 years after cochlear implantation in a child with Mondini malformation. Leakage of CSF was identified from the cochleostomy around the electrode of the implant, and this leak was sealed with a temporalis fascia and muscle plug. Although this complication appears to be rare, care must be taken to seal the cochleostomy in children with inner ear malformations at the initial surgery, and any episode of meningitis after surgery must be thoroughly investigated to rule out CSF leakage from the labyrinth.

[Clinical analysis of 102 patients with congenital inner ear malformation].

Science.gov (United States)

Zhu, X; Lian, N; Cai, Z

1995-01-01

Hearing loss and CT findings of 200 ears from 102 cases with congenital malformation of inner ear were included in our study. Hearing loss was typically bilateral severe, or total deafness. 75 percent of them were found deaf within one-year-old. In addition, 47 patients' (46%) mothers were noted to have caught a cold in first trimester of pregnancy. Temporal bone abnormalties were described as five types: 1. Michel malformation, 2. Mondini malformation, 3. enlargement of the vestibular aqueducts, 4. developmental deformity of cochlear aqueduct, 5. developmental deformity of internal acoustic meatus. Most cases showed malformations of vestibule or vestibular aqueducts.

Introducing chinese treatment experience of Budd-Chiari syndrome to world wide

International Nuclear Information System (INIS)

Li Linsun

2008-01-01

During the latest 20 years, the crucial progress has been made in the field of treatment for Budd-Chiari syndrome (BCS)in China with therapeutic methods transferring from surgical to interventional and achieving successful rate of 96%. Our unique contribution to the BCS interventional therapy should have made ourselves proud for being as a superior world position on account of large number of cases, abundant therapeutic contents and consummate skills. What a pity is that our achievement was not appreciated by international colleagues because of only a few papers published in SCI journals. So that, Chinese scholars ought to have doing more necessarily through diligently learning English, doing long term follow-up and performing more basic researches and actively joining international academic exchanges, let our good experiences of treatment for BCS be introduced to the world-wide. (authors)

Gross congenital malformation at birth in a government hospital.

Science.gov (United States)

Sachdeva, Sandeep; Nanda, Smiti; Bhalla, Kapil; Sachdeva, Ruchi

2014-01-01

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.

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.)

Neuroradiological evaluation of dorsal cyst malformations

International Nuclear Information System (INIS)

Utsunomiya, Hidetsuna; Hayashi, Takashi; Hashimoto, Takeo; Matsuishi, Toyojiro; Okudera, Toshio.

1988-01-01

We discussed six cases with dorsal cyst malformations listing their neuroradiological observations and proposed to differentiate between the holosphere and hemisphere as defined by Yokota (1984). The cases were divided into holospheric and hemispheric groups depending on the continuity of their frontal lobe midlines. Cases 1, 2 and 3 were placed in the holospheric group because of their unseparated frontal lobe sbeneath the partially formed anterior interhemispheric fissures. Cases 4, 5 and 6 were grouped in the hemisphere due to the completion of the interhemispheric fissures. There has been a tendency in recent years for most cases of cerebral malformations having an endogenous dorsal cyst with monoventricular configuration to be diagnosed as holoprosencephaly. However, we believe that only patients who have a dorsal cyst in the holospheric brain should be included, and the others in the hemispheric brain, which is capable of completing hemispheric cleavage, should not. Therefore, we emphasize the importance of correctly identifying the holospheric state in the dorsal cyst malformations for diagnosing holoprosencephaly. (author)

Complex arteriovenous malformation - a case report

International Nuclear Information System (INIS)

Sirakov, S.; Penkov, M.; Marinov, M.; Kamenov, B.

2014-01-01

AVMs are composed of a network of channels interposed between feeding arteries and draining veins, without any direct shunt. Two different anatomic types of nidus may be more or less differentiated: The most frequent clinical presentations of brain AVMs are hemorrhage, seizure, chronic headache, and focal deficits not related to hemorrhage. We show a case of 27 years old female came to the hospital in heavy condition with subarachnoid hemorrhage Fisher 4. She had a history of 4 surgical operation of brain AVM in the last 10 years, without significant reduction of the malformation. After discussion of multidisciplinary team, of neuroradiologist and neurosurgeon was decided to be perform endovascular embolization, because of the better outcome for the patient. We performed endovascular treatment of the AVM with achieving subtotal embolization of malformation (90%). The patient recovery completely after 22 days and went home. For the next 18 months follow up there is no data of accidents for the patient. Key words: Arteriovenous Malformation. Subarachnoid hemorrhage. Endovascular treatment. Embolization

Long-Term Follow-Up After Successful Transjugular Intrahepatic Portosystemic Shunt Placement in a Pediatric Patient with Budd-Chiari Syndrome

International Nuclear Information System (INIS)

Carnevale, Francisco Cesar; Szejnfeld, Denis; Moreira, Airton Mota; Gibelli, Nelson; Gregorio, Miguel Angel De; Tannuri, Uenis; Cerri, Giovanni Guido

2008-01-01

Orthotopic liver transplantation is the standard of care in patients with Budd-Chiari syndrome (BCS), and transjugular intrahepatic portosystemic shunt (TIPS) has become an important adjunct procedure while the patient is waiting for a liver. No long-term follow up of TIPS in BCS patients has been published in children. We report successful 10-year follow-up of a child with BCS and iatrogenic TIPS dysfunction caused by oral contraceptive use.

Functional Budd-Chiari Syndrome Associated With Severe Polycystic Liver Disease

Directory of Open Access Journals (Sweden)

Precil Diego Miranda de Menezes Neves

2017-06-01

Full Text Available A 50-year-old woman with end-stage renal disease secondary to autosomal dominant polycystic kidney disease was referred to a quaternary care center due to significantly increased abdominal girth. Her physical examination revealed tense ascites and abdominal collateral veins. A 10-L paracentesis improved abdominal discomfort and disclosed a transudate, suggestive of portal hypertension. A computed tomographic scan revealed massive hepatomegaly caused by multiple cysts of variable sizes, distributed throughout all hepatic segments. Contrast-enhanced imaging uncovered extrinsic compression of hepatic and portal veins, resulting in functional Budd-Chiari syndrome and portal hypertension. Although image-guided drainage followed by sclerosis of dominant cysts could potentially lead to alleviation of the extrinsic compression, the associated significant risk of cyst hemorrhage and infection precluded this procedure. In this scenario, the decision was to submit the patient to a liver-kidney transplantation. After 1 year of this procedure, the patient maintains normal liver and kidney function and refers significant improvement in quality of life.

A rare association of rectal and genitourinary duplication and anorectal malformation

Institute of Scientific and Technical Information of China (English)

王俊; 施诚仁; 余世耀; 吴燕; 徐长辉

2003-01-01

@@ It is very rare to see multiple malformations occurring in both the urogenital and digestive systems in a case of congenital anorectal malformation. In this particular care, an imperforated anus occurred with other multiple malformations, including a double kidney, urethral duplication and rectal duplication, etc.

Clinico-roentgenological atlas of congenital malformations in human limbs

International Nuclear Information System (INIS)

Luzina, E.V.; Shakirov, Eh.A.

1990-01-01

The objective of the present atlas is to familiarize a wide range of physicians with localizations of congenital malformations in human limbs which are little studied clinically and roentgenologically. The atlas illustrates different variants of malformations of upper and lower limbs systematized by nosological principle; multiple and some, rarely occuring system deformations of the skeleton. Malformation features are described and their names are presented in compliance with the international classification taking into account the vocabulary of medical terms. 102 refs.; 121 figs

Fever in pregnancy and the risk of congenital malformations

DEFF Research Database (Denmark)

Sass, L; Urhoj, S K; Kjærgaard, J

2017-01-01

Background: In a variety of animal species, hyperthermia in pregnancy has been recognized as teratogenic. Hyperthermia interferes with protein synthesis via heat-shock proteins, which can entail membrane disruption, cell death, vascular disruption, and placental infarction. This can induce severe....... Congenital malformations within the first three and a half years of life were categorized according to EUROCAT's classification criteria. Logistic regression models were used to estimate the associations between fever in first trimester and overall congenital malformations and congenital malformations...

Dandy-Walker malformation | Hamid | Egyptian Journal of Medical ...

African Journals Online (AJOL)

Dandy-Walker malformation is a rare congenital malformation and involves the cerebellum and fourth ventricle. The condition is characterized by agenesis or hypoplasia of the cerebellar vermis, cystic dilatation of the fourth ventricle, and enlargement of the posterior fossa. A large number of concomitant problems may be ...

Infertility, infertility treatment, and congenital malformations: Danish national birth cohort

Science.gov (United States)

Zhu, Jin Liang; Basso, Olga; Obel, Carsten; Bille, Camilla; Olsen, Jørn

2006-01-01

Objectives To examine whether infertile couples (with a time to pregnancy of > 12 months), who conceive naturally or after treatment, give birth to children with an increased prevalence of congenital malformations. Design Longitudinal study. Setting Danish national birth cohort. Participants Three groups of liveborn children and their mothers: 50 897 singletons and 1366 twins born of fertile couples (time to pregnancy ≤ 12 months), 5764 singletons and 100 twins born of infertile couples who conceived naturally (time to pregnancy > 12 months), and 4588 singletons and 1690 twins born after infertility treatment. Main outcome measures Prevalence of congenital malformations determined from hospital discharge diagnoses. Results Compared with singletons born of fertile couples, singletons born of infertile couples who conceived naturally or after treatment had a higher prevalence of congenital malformations—hazard ratios 1.20 (95% confidence interval 1.07 to 1.35) and 1.39 (1.23 to 1.57). The overall prevalence of congenital malformations increased with increasing time to pregnancy. When the analysis was restricted to singletons born of infertile couples, babies born after treatment had an increased prevalence of genital organ malformations (hazard ratio 2.32, 1.24 to 4.35) compared with babies conceived naturally. No significant differences existed in the overall prevalence of congenital malformations among twins. Conclusions Hormonal treatment for infertility may be related to the occurrence of malformations of genital organs, but our results suggest that the reported increased prevalence of congenital malformations seen in singletons born after assisted reproductive technology is partly due to the underlying infertility or its determinants. The association between untreated infertility and congenital malformations warrants further examination. PMID:16893903

Percutaneous Transjugular Direct Porto-caval Shunt in Patients with Budd-Chiari Syndrome

International Nuclear Information System (INIS)

Quateen, A.; Pech, M.; Berg, T.; Bergk, A.; Podrabsky, P.; Felix, R.; Ricke, J.

2006-01-01

The purpose of the study was to evaluate the feasibility and effectiveness of direct porto-caval shunts in patients with Budd-Chiari syndrome (BCS) in whom there is no access to the hepatic veins during transjugular intrahepatic portosystemic shunt (TIPSS). We included six consecutive patients with fulminant/acute Budd-Chiari syndrome (mean age: 35 years) in whom a conventional TIPSS was not possible due to inaccessible hepatic veins. We performed a direct porto-caval shunt via a transhepatic approach. Patients were followed up by means of clinical examination, laboratory investigations, and Doppler ultrasound. TIPSS implantation from the inferior vena cava (IVC) was successful in all six patients (100%). The median transhepatic shunt length was 9 cm (8-10 cm). No procedure-related complications were observed in our patients. Early shunt occlusion occurred in three out of six patients (50%). In all three of these patients, the stent used to stabilize the shunt ended 1-2 cm before reaching the IVC. All occlusions were successfully recanalized. One of these patients developed recurrent early shunt as well as mesenteric and splenic vein occlusions. She died 7 days after TIPSS placement due to an unmanageable coagulation disorder. The remaining five patients were followed up by planned clinical examination and laboratory investigations (mean follow-up time was 15 months; patient 1 was followed up for 13 months, patient 2 for 14 months, patient 3 for 15 months, and patients 4 and 5 for 16 months) and all displayed a complete and durable resolution of liver failure and ascites without reintervention. In patients with acute liver failure originating from BCS and inaccessible hepatic veins, a direct transhepatic porto-caval shunt can be performed safely and effectively under ultrasound guidance. Future studies in larger patient groups should investigate if the patency of transcaval TIPSS with long transhepatic shunt segments is similar compared to conventional TIPSS via

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

Magnetic resonance imaging of syrinx cavity. Differentiation between syrinx with spinal cord tumor and without tumor

Energy Technology Data Exchange (ETDEWEB)

Fukuda, Teruo; Inoue, Yuichi; Nemoto, Yutaka

1987-12-01

Syrinx cavity may result from a number of intramedullary tumors or non-neoplastic conditions such as Chiari malformation, trauma and meningitis. The surgical procedure to repair the syrinx is quite different between the cases with spinal cord tumor and without tumor. Therefore, it is important to determine whether syrinx is associated with tumor or not before surgery. We reviewed MR images of 26 cases with syrinx cavity; 20 of which were not associated with tumor (12 Chiari malformation, 5 trauma, 1 meningitis, 1 hydrocephalus, 1 idiopathic) and 6 of which were associated with intramedullary tumor (3 ependymoma, 2 astrocytoma, 1 hemangioendothelioma). The syrinx showed low signal in all 26 cases on T1 weighted images (SE 600/40). All 6 cases with syrinx associated with intramedullary tumor showed high intensity on T2 weighted images (SE 2000/120). On the other hand, the syrinx of 19 of 20 cases with no tumor condition showed reduced intensity on T2 weighted images. Only one post-traumatic small syrinx showed high signal. This was quite different between the cases with spinal cord tumor and without tumor. Therefore, when the syrinx cavity shows high signal on T2 weighted images, an intramedullary tumor is strongly suggested.

Magnetic resonance imaging of syrinx cavity

International Nuclear Information System (INIS)

Fukuda, Teruo; Inoue, Yuichi; Nemoto, Yutaka

1987-01-01

Syrinx cavity may result from a number of intramedullary tumors or non-neoplastic conditions such as Chiari malformation, trauma and meningitis. The surgical procedure to repair the syrinx is quite different between the cases with spinal cord tumor and without tumor. Therefore, it is important to determine whether syrinx is associated with tumor or not before surgery. We reviewed MR images of 26 cases with syrinx cavity; 20 of which were not associated with tumor (12 Chiari malformation, 5 trauma, 1 meningitis, 1 hydrocephalus, 1 idiopathic) and 6 of which were associated with intramedullary tumor (3 ependymoma, 2 astrocytoma, 1 hemangioendothelioma). The syrinx showed low signal in all 26 cases on T1 weighted images (SE 600/40). All 6 cases with syrinx associated with intramedullary tumor showed high intensity on T2 weighted images (SE 2000/120). On the other hand, the syrinx of 19 of 20 cases with no tumor condition showed reduced intensity on T2 weighted images. Only one post-traumatic small syrinx showed high signal. This was quite different between the cases with spinal cord tumor and without tumor. Therefore, when the syrinx cavity shows high signal on T2 weighted images, an intramedullary tumor is strongly suggested. (author)

Dysgenesis of the corpus callosum and associated malformaaation{sup :} computed tomography and magnetic resonance imaging findings; Disgenesia do corpo caloso e mas-formacoes associadas: achados de tomografia computadorizada e ressonancia magnetica

Energy Technology Data Exchange (ETDEWEB)

Montandon, Cristiano; Montandon Junior, Marcelo Eustaquio [Colegio Brasileiro de Radiologia e Diagnostico por Imagem (CBR), Sao Paulo, SP (Brazil); Ribeiro, Flavia Aparecida de Sousa; Lobo, Leonardo Valadares Barbosa; Teixeira, Kim-Ir-Sen Santos [Goias Univ., Goiania (Brazil). Hospital de Clinicas. Dept. de Diagnostico por Imagem e Anatomia Patologica]. E-mail: cabeca2@terra.com.br

2003-10-01

Callosal dysgenesis is a malformation of the corpus callosum with origins in the embryogenesis of the telencephalon. We reviewed the computed tomography and magnetic resonance imaging findings of 11 patients with callosal dysgenesis and one patient with normal corpus callosum associated with a lipoma. The patients were divided into three distinct groups: total agenesis (three patients), partial agenesis (six patients) and hypoplasia (two patients). Associated abnormalities were observed in nine patients, including Chiari II malformation (one patient), schizencephaly (one patient), interhemispheric cyst (two patients), Dandy-Walker cyst (one patient), nodular heterotopy (one patient) and lipoma of the corpus callosum (four patients). This paper presents a review that may contribute to the diagnosis of these disorders. (author)

Suitability of foramen magnum measurements in sex determination and their clinical significance.

Science.gov (United States)

Tellioglu, A Metin; Durum, Y; Gok, M; Karakas, S; Polat, A G; Karaman, C Z

2018-01-01

The foramen magnum provides a transition between fossa cranii posterior and canalis vertebralis. Medulla oblongata, arteria vertebralis and nervus accessorius spinal part pass through the foramen magnum. In this study, we aimed to make the morphometric measurements of the foramen magnum on computed tomography (CT) and to determine the feasibility of sex determination based on these measurements. Besides sex determination, from a clinical aspect, it is important to know the measurements of the foramen magnum in the normal population in terms of diseases characterised by displacement of the posterior fossa structures through foramen magnum to upper cervical spinal canal such as Chiari malformations and syringomyelia. All the data for our study was obtained retrospectively from 100 patients (50 males, 50 females) who had a CT scan of the head and neck region in Adnan Menderes University Hospital, Department of Radiology. To examine the foramen magnum in each and every occipital bone, we measured the foramen magnum's anteroposterior diameter, transverse diameter, the area of the foramen magnum and its circumference. We found that men have a higher average value than women in our study. According to Student's t-test results; in all measured parameters, there is significant difference between the genders (p discriminant function test is performed for all four measurements, the discrimination rate is 64% for all women, 70% for all men and 67% for both genders. As a result of our study, the metric data we obtained will be useful in cases where the skeletons' sex could not be determined by any other methods. We believe that, our study may be useful for other studies in determining of sex from foramen magnum. Our measurements could give some information of the normal ranges of the foramen magnum in normal population, so that this can contribute to the diagnosis process of some diseases by imaging. (Folia Morphol 2018; 77, 1: 99-104).

Giant encephalocele: a study of 14 patients.

Science.gov (United States)

Mahapatra, A K

2011-01-01

Giant encephalocele is a rare condition and few published reports are available in the English literature. It is a challenge to neurosurgeons, even today. This series consists of 14 patients with giant encephaloceles treated at our institute. Over a period of 8 years, from 2002 to 2009, 110 patients with encephaloceles were managed at our institute. Amongst them, 14 were children with giant encephaloceles. All patients had CT/MRI or both prior to surgery, and all were operated upon. Four patients were neonates, under 1 month of age, and 9/14 patients (64%) were under 3 months. The youngest child was a newborn baby aged 2 days. Except for 1 with an anterior encephalocele, the rest were patients with occipital encephaloceles. A CT scan was performed on 5 and an MRI on 1 patient. Both CT and MRI scans were performed on the other 8 patients. MRI/CT showed hydrocephalus in 10/14 patients. Of these, 7 required ventriculoperitoneal (VP) shunt, and the remaining 3 with mild to moderate hydrocephalus did not. Of the 7 patients who underwent VP shunt, 5 had a shunt during the encephalocele repair and 2 had a postoperative shunt for increasing hydrocephalus. Other associated anomalies recorded were acquired Chiari malformation in 3 patients, secondary craniostenosis with microcephaly in 5, and syringomyelia in 1 patient. All the patients underwent repair of encephalocele and 4 had suturectomy of coronal suture for the secondary craniostenosis. There were 2 postoperative deaths due to hypothermia. Among the 12 surviving patients, 9 had a good outcome and 3 had poor mental development. The present study shows overall good outcomes in 9/14 (66%) patients. Copyright © 2012 S. Karger AG, Basel.

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.

Prevalence of Congenital Malformations

Directory of Open Access Journals (Sweden)

Akhavan Karbasi Sedighah

2009-05-01

Full Text Available Congenital malformation (CM will begin to emerge as one of the major childhood health problems .Treatment and rehabilitation of children with congenital malformations are costly and complete recovery is usually impossible. The aim of this study was to determine frequency of CM in Yazd central city of the Islamic Republic of Iran to find out if there has been any difference in the rate and types of CM in this area. This descriptive-observational study carried on 4800 births delivered at all maternity hospitals in Yazd from October 2003 to June 2004. Prevalence of CM was 2.83% (2.86 % in male and 2.68 % in female out of the 136 cases 69(51.88% were males and 64 (48.12% were females and 3 with ambiguous genitalia. Positive family history of CM in sibling was in only 6 cases (4.41%.Overall, musculoskeletal (0.83%, central nerv-ous system (0.47% and genital system (0.37% were accounted as the most common. Frequency of CM was more seen in still birth (12.5% as in comparison to live birth (2.71%. There was not statistical difference be-tween prevalence of CM and neonatal's gender, gestational age, birth order and mother's age, drug ingestion, illness and parental consanguinity. In this study the overall prevalence of congenital malformation among the newborn was higher than those previous reported in Iran and determining the causes of this difference needs more extensive studies.

Analysis of Lethality and Malformations During Zebrafish (Danio rerio) Development.

Science.gov (United States)

Raghunath, Azhwar; Perumal, Ekambaram

2018-01-01

The versatility offered by zebrafish (Danio rerio) makes it a powerful and an attractive vertebrate model in developmental toxicity and teratogenicity assays. Apart from the newly introduced chemicals as drugs, xenobiotics also induce abnormal developmental abnormalities and congenital malformations in living organisms. Over the recent decades, zebrafish embryo/larva has emerged as a potential tool to test teratogenicity potential of these chemicals. Zebrafish responds to compounds as mammals do as they share similarities in their development, metabolism, physiology, and signaling pathways with that of mammals. The methodology used by the different scientists varies enormously in the zebrafish embryotoxicity test. In this chapter, we present methods to assess lethality and malformations during zebrafish development. We propose two major malformations scoring systems: binomial and relative morphological scoring systems to assess the malformations in zebrafish embryos/larvae. Based on the scoring of the malformations, the test compound can be classified as a teratogen or a nonteratogen and its teratogenic potential is evaluated.

[Diagnostic significance of multi-slice computed tomography imaging in congenital inner ear malformations].

Science.gov (United States)

Ma, Hui; Han, Ping; Liang, Bo; Liu, Fang; Tian, Zhi-Liang; Lei, Zi-Qiao; Li, You-Lin; Kong, Wei-Jia

2005-04-01

To evaluate the feasibility and usability of multi-slice computed tomography (MSCT) in congenital inner ear malformations. Fourty-four patients with sensorineural hearing loss (SNHL) were examined by a Somatom Sensation 16 (siemens, Germany) CT scanner with following parameters: 120 kV, 100 mAs, 0.75 mm collimation, 1 mm reconstruction increment, a pitch factor of 1 and a field of view of 100 mm. The axial images of interested ears were reconstructed with 0.1 mm reconstruction increment, and a field of view of 50 mm. The 3D reconstructions were done with volume rendering technique (VRT) on the workstation (3D Virtuoso and Wizard,siemens). Twenty-five patients were normal and 19 patients (36 ears) were congenital inner ear malformations among 44 patients scanned with MSCT. Of the malformations, all the axial, MPR and VRT images can display the site and degree in 33 ears. VRT images were superior to the axial images in displaying the malformations in 3 ears with the small lateral semicircular canal malformations. The malformations were Michel deformity (1 ear), common cavity deformity (3 ears), incomplete partition I (3 ears), incomplete partition II (Mondini deformity, 5 ears), vestibular and semicircular canal malformations( 14 ears), vestibular aqueduct dilate( 16 ears, of which 6 ears accompanied by other malformations), the internal auditory canal malformation(8 ears, all accompanied by other malformations). MSCT allows a comprehensively assessing various congenital ear malformations through high quality MPR and VRT reconstructions. VRT images can display the site and degree of the malformations three-dimensionally and intuitionisticly. It is very useful to the cochlear implantation.

Interventional treatment for the occlusive hepatic veins in Budd-Chiari syndrome

International Nuclear Information System (INIS)

Zhang Xitong; Xu Ke; Feng Bo; Su Hongying; Li Hong; Zu Maoheng; Cui Jingguo; Yang Xueliang; Zhao Jinxu; Chen Kai

2003-01-01

Objective: To evaluate the interventional methods for occlusive hepatic veins in Budd-Chiari syndrome and its mid and long-term effects. Methods: Forty-two patients (male 17 cases and female 25 cases) aged from 18 to 57 years old (mean 34.5 years) were studied. The liver functions were Child A in 23 cases, Child B in 6 cases, and Child C in 13 cases, respectively. A total of 92 hepatic veins were occluded. Among them, 29 left hepatic veins, 24 middle hepatic veins, 36 right hepatic veins, and 3 accessory hepatic veins were occluded. Thirty-four patients were accompanied with the stenotic or occlusive inferior vena cave (IVC) . The interventional methods included: (1) recanalization of occlusive hepatic veins (by transjugular, transfemoral, and percutaneous transhepatic route, or the combination of above three methods); (2) percutaneous transluminal angioplasty; (3) self-expanding stent implantation. The occlusive IVC in 32 patients also accepted PTA and/or stent implantation. Results: The successful recanalization was carried out in forty hepatic veins in 40 patients. PTA of occlusive veins was followed by stent implantation in 8 patients. The pressure of hepatic veins dropped from 34.5 cm H 2 O (25.0-48.0 cm H 2 O) to 22.0 cm H 2 O (12.0-35.0 cm H 2 O) after intervention (T=11.50, P < 0.01). The symptoms and pathological signs improved obviously in 32 cases and improved partly in 8 cases. During the follow-up period from 1 month to 54 months (mean 27.5 months), one cases died of liver function failure at one month after intervention. The re-intervention of occlusive veins in two cases were performed and the better results were acquired again. Five cases didn't accept re-intervention. Neither recurrence of symptoms nor re-occlusion of hepatic veins was found in the other 32 patients. Conclusion: (1) Multiple and synthetical interventional methods for the occlusive hepatic veins in Budd-Chiari syndrome can be utilized. (2) The intervention of hepatic vein is mini

ECOLOGICALLY DETERMINED MALFORMATIONS IN CHILDREN IN THE ULYANOVSK REGION

Directory of Open Access Journals (Sweden)

Elizaveta Grigoryevna Panchenko

2018-03-01

Full Text Available Currently particularly relevant is the interaction between ecology and people. The study had been carried to examine the correlation of congenital malformations from the residence. The analysis showed that increasing concentrations of heavy metals (lead, cadmium, and chromium in soil and air in some districts of the Ulyanovsk region correlates with a large number of congenital malformations in children, in contrast to those areas, where their content does not excees MPC, which allows to consider imbalance of trace elements as a possible factor in the development of congenital malformations.

MRI findings of intracranial cavernous malformations

International Nuclear Information System (INIS)

Han, Byoung Hee; Kim, Dong Ik; Cho, Yong Kuk

1995-01-01

To analyze the variable MRI features and clinical significance of intracranial cavernous malformations. Forty patients(mean age 35.4) with cavernous malformation were evaluated by MRI. Eleven patients were surgically confirmed. Cavernous malformations were divided into four categories on the basis of the MR imaging characteristics, especially on T2-weighted image. Type I lesion was defined as an extralesional subacute hemorrhage outside the low signal rim, type II as an intralesional hemorrhage surrounded by low signal rim, type III lesion as an intralesional thrombosis with variegated central core surrounded by low signal rim, and type IV lesion as a focal old hemorrhagic core with small low signal intensity. Type IV was further divided into IVa and IVb, whether the lesion has small iso-or hypersignal central core (IVa) or not (IVb). Follow-up MRI was evaluated in 12 patients who were managed conservatively. Follow-up intervals ranged from 2 weeks to 29 months (mean 6 months). Total 80 lesions were detected in 40 patients. Multiple lesions were noted in 10 patients. The topography of the cavernous malformations was supratentorial in 75% and infratentorial in 23%. There were 10 lesions in type I, 15 in type II, 21 in type III, 14 in type IVa, and 20 in type IVb. Type I lesions mainly showed mass effect and edema. Type III lesions showed minimal contrast enhancements in 7 lesions on delayed images. Type II lesions showed the characteristics of both type I and type III lesions. On follow up images, decrease in size in 5, change of type in 7, rebleeding in 2 and no change in 12 lesions were demonstrated. Hemorrhage, edema and mass effect were combined in the cases of rebleeding. On follow-up study, the estimated risk of bleeding was 32.3%/person-year and 13.7%/lesion-year. Cavernous malformations show as variable appearance, on MR imaging suggesting variable stages of evolution. The MR morphologic classification and evaluation of secondary findings are helpful to

Effect of Gastrointestinal Malformations on the Outcomes of Patients With Congenital Heart Disease.

Science.gov (United States)

Mery, Carlos M; De León, Luis E; Rodriguez, J Rubén; Nieto, R Michael; Zhang, Wei; Adachi, Iki; Heinle, Jeffrey S; Kane, Lauren C; McKenzie, E Dean; Fraser, Charles D

2017-11-01

The goal of this study was to assess the effect of associated gastrointestinal malformations (GI) on the outcomes of patients undergoing congenital heart operations. Neonates and infants with thoracic (esophageal atresia, tracheoesophageal fistula) and abdominal (duodenal stenosis/atresia, imperforate anus, Hirschsprung disease) GI malformations undergoing congenital heart operations between 1995 and 2015 were included. Two control groups were created, one for each group. Patients were matched by diagnosis, procedure, history of prematurity, presence of genetic syndrome, and a propensity score including weight and year of operation. The cohort included 383 patients: 52 (14%) with thoracic GI malformations and 98 (25%) thoracic GI controls, 80 (21%) with abdominal GI malformations and 153 (40%) abdominal GI controls. Median follow-up was 6 years (range, 16 days to 20 years). Patients with thoracic GI malformations had longer length of stay (p malformations and controls. Patients with thoracic GI malformations have worse perioperative outcomes than controls, but their long-term survival does not seem to be significantly different. Abdominal GI malformations do not have a significant effect on outcomes. The presence of GI malformations should likely not preclude patients from undergoing congenital heart operations, but careful family counseling is necessary, especially for thoracic GI malformations. Copyright © 2017 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

SAGITTAL DIAMETER OF FORAMEN MAGNUM IN NORMAL POPULATION: AN MRI STUDY

OpenAIRE

Lakshmi

2015-01-01

Lower position of cerebellar tonsils was frequently noticed in Western studies. In some of the studies, sagittal diameter of foramen magnum was found to be larger in cases of Chiari malformation. However, there are no Indian studies for comparison. Our study was proposed to determine the standard values for sagittal diameter of foramen magnum in various age groups and both sexes. This gives a guideline for further studies in pathological conditions like Craniovertebral Junctional ...

Imaging of head and neck venous malformations

International Nuclear Information System (INIS)

Flis, Christine M.; Connor, Stephen E.

2005-01-01

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.)

NPHP4 Variants Are Associated With Pleiotropic Heart Malformations

NARCIS (Netherlands)

French, Vanessa M.; van de Laar, Ingrid M. B. H.; Wessels, Marja W.; Rohe, Christan; Roos-Hesselink, Jolien W.; Wang, Guangliang; Frohn-Mulder, Ingrid M. E.; Severijnen, Lies-Anne; de Graaf, Bianca M.; Schot, Rachel; Breedveld, Guido; Mientjes, Edwin; van Tienhoven, Marianne; Jadot, Elodie; Jiang, Zhengxin; Verkerk, Annemieke; Swagemakers, Sigrid; Venselaar, Hanka; Rahimi, Zohreh; Najmabadi, Hossein; Meijers-Heijboer, Hanne; de Graaff, Esther; Helbing, Wim A.; Willemsen, Rob; Devriendt, Koen; Belmont, John W.; Oostra, Ben A.; Amack, Jeffrey D.; Bertoli-Avella, Aida 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

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

Morbidity rate due to renal malformations in patients from Las Tunas province

Directory of Open Access Journals (Sweden)

Silvio Laffita Estévez

2015-09-01

Full Text Available Background: The urogenital congenital malformations represent the first place within the genetic malformations in the province of Las Tunas.Objective: To characterize the renal congenital malformations in pediatric patients of the herein mentioned province, from 2010 to 2014.Methods: A descriptive study was carried out with 283 paediatric patients with renal and urinary tract congenital malformation, in the province and period herein stated. The variables included: sex, clinical manifestations, more frequent malformations, which of them needed surgical treatment, the positive results of the radiological studies, and the malformations that developed into chronic renal failure. The data were analyzed according to descriptive statistics.Results: The male sex represented a 63,96 %. A 57,95 % of the children were asymptomatic. Within the congenital malformations ectasia prevailed with a 49,47 %. 100 % of the cases with a compromise of the ureteovesiccal union, ureterocele and shell of the posterior urethra, 78 % of the patients with stenosis of the ureteropyelic union and 4,76 % of the patients with vesicoureteric reflux needed surgical treatment. The radiological studies were highly positive. 1,41 % of the patients developed chronic renal failure.Conclusions: Most of the patients with renal and urinary tract congenital malformations were diagnosed before the 5 years of age. Only four patients developed chronic renal failure.

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......Pharmacological treatment of pregnant women with depression is hampered by concerns for the developing fetus. The presentation will summarize existing knowledge on the potential association between antidepressants and congenital malformations, elaborate on the scientific background, and discuss...... the clinical significance. Most information on malformations in humans is derived from epidemiological studies. The strengths and limitations of the different designs need careful consideration, including issues of confounding by indication, recall bias, and power. For most antidepressants existing data...

Congenital cystic adenomatoid malformation

International Nuclear Information System (INIS)

Chaudhry, A.K.; Azam, M.; Maqsood, R.; Naz, B.; Salam, A.

2003-01-01

This case report presents the clinical picture, diagnostic methodology and surgical treatment of a female child who presented with chronic cough and dyspnoea due to congenital malformation of lung. A discussion of diagnosis and management is presented at the end. (author)

[Epidemiological analysis of selected congenital limb malformations in Hengyang].

Science.gov (United States)

Li, Na-Na; Yuan, Yu-Mei; Liu, Yong; Dai, Li; Deng, Chang-Fei; Nie, Xing-Hui; Zheng, Xiang-Chi; Hu, Yan-Zhen; Liu, Yun-Rong

2013-07-01

To describe the epidemiological characteristics of selected congenital limb malformations (CLM) in newborns of Hengyang. During the period of 2008-2010, cluster sampling survey was adopted to investigate the congenital limb malformations of neonates born to women resident in Hengyang, including Nanyue District, Zhuhui District, Changning City and Hengshan County. Each newborn was examined for the screening of CLM after birth. Limb malformations were grouped into the isolated (ILM) and the syndromic (SLM) form, depending on associated malformations of the affected. Prevalence rates, CLM spectrum and clinical manifestations were analyzed. A total of 170 CLM cases were identified among 52,307 newborns during the study period, resulting overall rate of 32.50/10(4). The rates for isolated and syndromic CLM were 28.29 and 4.21 per 10 000 births respectively. The rates for polydactyly, congenital talipes equinovarus, syndactyly and limb reduction defects were 13.00/10(4), 9.56/10(4), 5.16/10(4) and 3.63/10(4), respectively. No significant difference in rates of overall CLM or specified CLM was observed across urban-rural, gender and maternal age groups. Of the cases affected by polydactyly, syndactyly and limb reduction defects, malformation involved upper limbs, lower limbs and the both accounted for 68.14%, 14.16% and 17.70%. Preterm birth, low birth-weight, still birth and neonatal death were observed more frequently in syndromic cases than in isolated patients. The high CLM prevalence rate and fatality rate in Hengyang suggest that effective measures should be taken to prevent malformations and to improve survival of the affected.

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.)

Urogenital tract anomalies in children with congenital anorectal malformation

NARCIS (Netherlands)

J.W. Hoekstra

1991-01-01

textabstractThe term 'imperforate anus' covers a variety of congenital anorectal malformations ranging in severity from anal stenosis to cloacal exstrophy. The clinical picture of the anorectal malformation has been known for thousands of years, during which many attempts have been made to find

About kinetics of paramagnetic radiation malformations in beryllium ceramics

International Nuclear Information System (INIS)

Polyakov, A.I.; Ryabinkin, Yu.A.; Zashkvara, O.V.; Bitenbaev, M.I.; Petukhov, Yu.V.

1999-01-01

This paper [1] specifies that γ-radiation of the beryllium-oxide-based ceramics results in development of paramagnetic radiation malformations emerging the ESR spectrum in form of doublet with the splitting rate of oestrasid Δ∼1.6 and g-factor of 2.008. This report presents evaluation outcomes of dependence of paramagnetic radiation malformations concentration in beryllium ceramics on gamma-radiation dose ( 60 Co) within the range of 0-100 Mrad. Total paramagnetic parameters of beryllium ceramics in the range 0-100 Mrad of gamma-radiation dose varied slightly, and were specified by the first type of paramagnetic radiation malformations

Congenital bronchopulmonary foregut malformations: concepts and controversies

International Nuclear Information System (INIS)

Newman, Beverley

2006-01-01

This article addresses the scope, etiology, important associations and imaging features of congenital bronchopulmonary foregut malformations. Etiologic concepts, including airway obstruction and vascular anomalies, are highlighted. Technical imaging advances, especially CT and MR, have greatly enhanced our diagnostic abilities in evaluating these lesions; however, thorough and careful assessment of all aspects of the malformation is still necessary. Several specific lesions are discussed in more detail, particularly regarding controversial issues in classification, understanding, imaging and management. (orig.)

Congenital bronchopulmonary foregut malformations: concepts and controversies

Energy Technology Data Exchange (ETDEWEB)

Newman, Beverley [University of Pittsburgh School of Medicine and Children' s Hospital of Pittsburgh, Pittsburgh, PA (United States)

2006-08-15

This article addresses the scope, etiology, important associations and imaging features of congenital bronchopulmonary foregut malformations. Etiologic concepts, including airway obstruction and vascular anomalies, are highlighted. Technical imaging advances, especially CT and MR, have greatly enhanced our diagnostic abilities in evaluating these lesions; however, thorough and careful assessment of all aspects of the malformation is still necessary. Several specific lesions are discussed in more detail, particularly regarding controversial issues in classification, understanding, imaging and management. (orig.)

The role of MRI in suspected inner ear malformations

International Nuclear Information System (INIS)

Koesling, S.; Juettemann, S.; Amaya, B.; Rasinski, C.; Bloching, M.; Koenig, E.

2003-01-01

Purpose: This is a prospective analysis of the value of MRI in suspected inner ear malformations. Materials and Methods: In 50 patients (43 children and young adults, 7 adults) with suspected inner ear malformation MRI (1.5 T) was performed. In addition, 42 of these patients underwent CT. For the analysis of the inner ear structures, the constructive interference in steady state (CISS) sequence with 0.7 mm slice thickness was used. Functional tests revealed a sensorineural hearing loss or deafness in 82 temporal bones (TB) and a combined hearing loss in 4 TB. The hearing loss was unilateral in 14 patients. MRI and CT findings were compared. Results: Imaging findings were normal in 58 TB. The pathological findings included inner ear malformations (35 TB), inflammatory changes (4 TB), partial obliteration of labyrinth (2 TB) and congenital aural atresia (1 TB). An isolated absence of the cochlear nerve (1 TB) could only be found by MRI. In the remaining cases, an inner ear malformation was diagnosed by MRI and CT with the same confidence but MRI was superior in displaying the fine details. Conclusions: MRI will become the method of choice in the diagnosis of inner ear malformations. (orig.) [de

Effects of Co60 gamma radiation on Biomphalaria glabrata (Say, 1818) Embryo. II. Malformations

International Nuclear Information System (INIS)

Okazaki, K.; Kawano, T.

1990-01-01

The morphogenetic effects of ionizing radiation were investigated in Biomphalaria glabrata embryos irradiated in the cleavage, blastula, gastrula, young trochophore and trochophore stages with 5 to 25 Gy doses of 60 CO gamma radiation. The number of malformed embryos rapidly increased with increasing radiation dose, reaching a maximum between 5th to 8th day after irradiation in all stages analyzed. Susceptibility to malformation induction was higher the younger than the age of the irradiated embryo. However, for the cleavage stage the frequency of malformed embryos was inversely proportional to radiation dose for the same radiation dose. Several types of morphogenetic malformations were obtained, among then cephalic malformations, exogastrula, shell malformations and embryos with everted stomodeum, unspecific malformations being the most frequent. The results show that the types of malformation induced by radiation probably are not radiation-specific and do not depend on the dose applied [pt

Classification of Cortical Brain Malformations

Directory of Open Access Journals (Sweden)

J Gordon Millichap

2008-03-01

Full Text Available Clinical, radiological, and genetic classifications of 113 cases of malformations of cortical development (MCD were evaluated at the Erasmus Medical Center-Sophia Children's Hospital, Rotterdam, the Netherlands.

Angiographic treatment of the arteriovenous malformation occurred after caesarean section

Directory of Open Access Journals (Sweden)

Selim Büyükkurt

2009-03-01

Full Text Available INTRODUCTION: Uterine arteriovenous malformations are classified as acquired or congenital. Caesarean section which is performed more frequently on nowadays, uterine curettage and other uterine surgeries are the most common causes of the acquired arteriovenous malformations. CASE: Twenty-two years old woman delivered her second child by caesarean section, due to history of caesarean section, was admitted with complaint of profuse vaginal bleeding 15 days after the surgery. She demonstrated the clinical features of the hypovolemic shock. At first she treated with four units of red blood suspension, two units of fresh frozen plasma and rapid infusion of the fluids. On endometrial curettage only blood and coagulum were obtained. The bleeding could only be controlled by the internal pressure of the 18 F Foley catheter. Doppler analyze of the uterus revealed a vascular malformation signifying a turbulent flow pattern with low pressure and high flow rate. A unilateral uterine artery embolization was performed her and her menstruel cycles are resumed at the fifth month of the puerperium. DISCUSSION: The clinical presentation of the uterine arteriovenous malformations depends on the localization and the dimensions of the malformation. The uterine arteriovenous malformation should be kept in mind in cases of late occurrence vaginal bleeding unresponsive to the uterotonic medications, especially in a woman with previous history of uterine damage, such as curettage or caesarean section.

Screening for pulmonary arteriovenous malformations

DEFF Research Database (Denmark)

Oxhøj, H; Kjeldsen, A D; Nielsen, G

2000-01-01

Pulmonary arteriovenous malformations (PAVM) cause right-to-left shunt and imply risk of paradoxical embolism and cerebral abscess. These complications can be prevented by appropriate treatment. Detection of PAVMs is therefore important, so simple and reliable screening methods are needed...... for this purpose. The aim of this investigation was to compare pulse oximetry and contrast echocardiography as screening tools for detection of pulmonary arteriovenous malformations. Eighty-five hereditary haemorrhagic telangiectasia (HHT) patients and first-degree relatives identified in a comprehensive study...... echocardiography with intravenous injection of echo contrast was performed in all subjects. Outcome measures were oxygen saturation change >2% units on changing body position and echo contrast observed in the left-sided heart chambers. Positive contrast echocardiography indicating the presence of PAVM was found...

Multiple congenital skeletal malformations in a lamb associated with ...

African Journals Online (AJOL)

Other malformations included patella absence, resulting in bowing of both fore and hind limbs with poorly developed muscles associated with these skeletal structure. Dystocia was believed to be a result of fetal monstrosity resulting in abnormal posture. The cause of the congenital malformations was not obvious ...

Percutaneous Sclerotherapy of Congenital Slow-Flow Vascular Malformations of the Orbit

Energy Technology Data Exchange (ETDEWEB)

Chiramel, George Koshy, E-mail: gkchiramel@gmail.com; Keshava, Shyamkumar Nidugala, E-mail: aparna-shyam@yahoo.com; Moses, Vinu, E-mail: vinu@cmcvellore.ac.in; Mammen, Suraj, E-mail: surajmammen77@gmail.com [Christian Medical College, Department of Radiology (India); David, Sarada, E-mail: saradadavid@gmail.com [Christian Medical College, Department of Ophthalmology (India); Sen, Sudipta, E-mail: paedsur@cmcvellore.ac.in [Christian Medical College, Department of Pediatric Surgery (India)

2015-04-15

PurposeThis manuscript describes the clinical features, imaging findings, treatment details, and short-term outcomes of a series of congenital slow-flow vascular malformations.MethodsThis was a prospective study of congenital slow-flow vascular malformations involving the orbital region treated at a single institution with percutaneous sclerotherapy.ResultsTen patients presented during the study period, comprising eight venous malformations, one lymphatic malformation, and one veno-lymphatic malformation. Nine patients underwent percutaneous sclerotherapy under digital subtraction angiography guidance, of which three developed marked rise in intraocular pressure requiring lateral canthotomy. The treatments were performed in the presence of an ophthalmologist who measured the intraorbital pressure during and after the procedure. On follow-up, some of the patients required repeat sessions of sclerotherapy. All patients had improvement of symptoms on follow up after the procedure.ConclusionCongenital slow-flow vascular malformations of the orbital region are rare lesions that should be treated using a multidisciplinary approach. Monitoring of the intraorbital pressure is required both during and after the procedure to decide about the need for lateral canthotomy to reduce the transiently increased intraorbital pressure.

Percutaneous Sclerotherapy of Congenital Slow-Flow Vascular Malformations of the Orbit

International Nuclear Information System (INIS)

Chiramel, George Koshy; Keshava, Shyamkumar Nidugala; Moses, Vinu; Mammen, Suraj; David, Sarada; Sen, Sudipta

2015-01-01

PurposeThis manuscript describes the clinical features, imaging findings, treatment details, and short-term outcomes of a series of congenital slow-flow vascular malformations.MethodsThis was a prospective study of congenital slow-flow vascular malformations involving the orbital region treated at a single institution with percutaneous sclerotherapy.ResultsTen patients presented during the study period, comprising eight venous malformations, one lymphatic malformation, and one veno-lymphatic malformation. Nine patients underwent percutaneous sclerotherapy under digital subtraction angiography guidance, of which three developed marked rise in intraocular pressure requiring lateral canthotomy. The treatments were performed in the presence of an ophthalmologist who measured the intraorbital pressure during and after the procedure. On follow-up, some of the patients required repeat sessions of sclerotherapy. All patients had improvement of symptoms on follow up after the procedure.ConclusionCongenital slow-flow vascular malformations of the orbital region are rare lesions that should be treated using a multidisciplinary approach. Monitoring of the intraorbital pressure is required both during and after the procedure to decide about the need for lateral canthotomy to reduce the transiently increased intraorbital pressure

Pattern of congenital brain malformations at a referral hospital in Saudi Arabia: An MRI study

International Nuclear Information System (INIS)

Alorainy, Ibrahim A.

2006-01-01

More than 2000 different congenital cerebral malformations have been described in the literature, for which several classification systems have been proposed. With the help of these classification systems, it is now possible, with neuroimaging, to time neuroembtyologic events. Magnetic resonance imaging (MRI), in particular, is useful in studying these malformations. This study evaluated the pattern of congenital brain malformations in a university referral hospital setting. The records of all MRI brain examinations at our hospital over a period of 3 years for children younger than 15 years of age were reviewed. Cases of congenital cerebral malformations were analyzed by sex, age at presentation, type of congenital cerebral malformation and other associated congenital cerebral malformations. Of the 808 MR examinations of different parts of the body for children in the study period, 719 (89%), on 581 patients, were of the brain. Eighty-six children (14.8%) were found to have single or multiple congenital brain malformations. In these children, 114 congenital brain malformations were identified, the commonest being cortical migrational defects (25 patients, 22%), neural tube closure defects (22 patients, 19%), and corpus callosum dysgenesis (22 patients 19%). The least common was vascular malformation. Sixteen patients (18.6%) had more than one congenital brain malformations. Neural tube closer defects, cortical migrational abnormalities, and corpus callosum anomalies were the commonest congenital brain malformations, while vascular malformations were the least common. Most of the identified malformations demonstrated the usual pattern, but a few showed unusual patterns and associations. (author)

Protective effect of selenium against ionizing radiation-induced malformations in mice

Energy Technology Data Exchange (ETDEWEB)

Cekan, E.; Tribukait, B.; Vokal-Borek, H.

A single dose of sodium selenite (0.5 mg Se/kg b.w.) was injected intraperitoneally into mice on day 9 of pregnancy, either 30 min or 2 h before 1.75 Gy whole body irradiation. Administration of selenite 2 h but not 30 min before irradiation resulted in a significant decrease in the number of malformed foetuses (p < 0.005). The decrease in foetal malformations occurred proportionally for all the major malformations observed, i.e. short or kinked tail, rib and vertebral malformations, coloboma and deformation of retina and iris. In addition, selenium pretreatment also protected against radiation-induced retardation of the sternum of the foetus.

Protective effect of selenium against ionizing radiation-induced malformations in mice

International Nuclear Information System (INIS)

Cekan, E.; Tribukait, B.; Vokal-Borek, H.; Stockholm Univ.

1985-01-01

A single dose of sodium selenite (0.5 mg Se/kg b.w.) was injected intraperitoneally into mice on day 9 of pregnancy, either 30 min or 2 h before 1.75 Gy whole body irradiation. Administration of selenite 2 h but not 30 min before irradiation resulted in a significant decrease in the number of malformed foetuses (p<0.005). The decrease in foetal malformations occurred proportionally for all the major malformations observed, i.e. short or kinked tail, rib and vertebral malformations, coloboma and deformation of retina and iris. In addition, selenium pretreatment also protected against radiation-induced retardation of the sternum of the foetus. (orig.)

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.

Percutaneous Cryotherapy of Vascular Malformation: Initial Experience

International Nuclear Information System (INIS)

Cornelis, F.; Neuville, A.; Labrèze, C.; Kind, M.; Bui, B.; Midy, D.; Palussière, J.; Grenier, N.

2013-01-01

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.

Cerebral cavernous malformations. Serial magnetic resonance imaging findings in patients with and without gamma knife surgery

International Nuclear Information System (INIS)

Yoon Pyeong-Ho; Kim, Dong-Ik; Jeon Pyoung; Ryu, Young-Hoon; Hwang, Geum-Joo; Park, Sang-Joon

1998-01-01

To classify the cerebral cavernous malformations and to investigate the natural history of cavernous malformations according to the classification, 41 patients with 61 cavernous malformations (40 cavernous malformations from 22 patients treated with gamma knife surgery) were regularly followed up using MR imaging for a mean period of 25.5 months in treated cavernous malformations and 20.7 months in untreated cavernous malformations, respectively. Cavernous malformations were classified into four types. Follow-up MR images were analyzed to evaluate changes in size, signal intensity, rebleeding, and perilesional adverse reaction of irradiation. A total of 61 cavernous malformations including 17 in type I, 23 in type II, 10 in type III, and 11 in type IV showed usual degradation of blood product in 22 cavernous malformations, no change in shape and signal intensity in 31 cavernous malformations, and eight cavernous malformations with rebleedings in the serial MR images. In these eight cavernous malformations with rebleedings, six occurred in type II and two in type III, but none in type I or IV. Rebleedings were more frequent in type II than in other types. Adverse reaction of irradiation was observed in five of 22 patients treated with gamma knife surgery. Although most cerebral cavernous malformations showed evolution of hemorrhage or no change in size or shape on follow-up MR images, cerebral cavernous malformations represented as mixture of subacute and chronic hemorrhage with hemosiderin rim (type II) have a higher frequency to rebleed than other types of cerebral cavernous malformations. Cerebral cavernous malformations represented as hemosiderin deposition without central core (type IV) have a lower tendency to rebleed than other types and do not need any treatment. Most of the adverse reaction of irradiation after gamma knife surgery around cavernous malformations are transient findings and are considered to be perilesional edema. (K.H)

Neurodevelopmental malformations of the cerebellar vermis in genetically engineered rats

Science.gov (United States)

The cerebellar vermis is particularly vulnerable to neurodevelopmental malformations in humans and rodents. Sprague-Dawley, and Long-Evans rats exhibit spontaneous cerebellar malformations consisting of heterotopic neurons and glia in the molecular layer of the vermis. Malformati...

Congenital ossicular malformation. A study of 27 ears

International Nuclear Information System (INIS)

Morioka, Shigefumi; Sakaguchi, Hirofumi; Taki, Masakatsu; Hyogo, Misako; Suzuki, Toshihiro; Hisa, Yasuo

2010-01-01

Despite otological surgerical progress improving clinical congenital ossicular malformation management, some cases remain inadequately treated. We report 27 cases of congenital ossicular malformation, focusing on reasons for remaining or delayed postoperative hearing loss evaluated in 27 congenital ossicular malformation cases in Kyoto Prefecture from 2002 to 2008. Overall success was 93% (25/27) 6 months postoperatively. Two ears had no hearing improvement and three delayed hearing loss 8 to 48 months postoperatively. The first two ears underwent small fenestration stapedotomy with malleus attachment piston, and the other three tympanoplasty type III using an autologous ossicle or total ossicular replacement prosthesis (TORP) as a columella. We discuss problems and solutions using a malleus attachment piston or prosthesis, preoperative audio- and radiological findings, and operative findings including facial nerve anomaly and congenital cholesteatoma. (author)

POSITION OF CEREBELLAR TONSILS IN REFERENCE TO FORAMEN MAGNUM: AN MRI STUDY

OpenAIRE

Lakshmi

2015-01-01

Normal position of the cerebellar tonsils is described to be at or above the foramen magnum. Western studies have shown the cerebellar tonsils to be below the foramen magnum. Position of tonsils is of great importance in assessing the hind brain deformity–Chiari malformation. There are no Indian studies to corroborate the findings. Hence, we proposed a basic study to find out the existence of tonsillar ectopia (Position of tonsils below the foramen magnum) in normal population. Ou...

CT, MRI and MRA of cerebrovascular malformations (report of 16 cases)

International Nuclear Information System (INIS)

Ding Qingguo; Hu Chunhong; Guo Liang; Ding Yi

2000-01-01

Objective: To evaluate the value of CT, MRI and MRA in cerebrovascular malformations. Methods: 16 cases of cerebrovascular malformations were confirmed by angiography and pathology, including 12 cases of arteriovenous malformations, 4 cases of cavernous angiomas. All of these cases were performed with CT, MRI non-contrast scan and 3D-TOF MRA. Results: CT appearances of AVM were mixed density with hypo-density, iso-density or hyper-density. Some had calcification or acute hemorrhage. MRI scan showed the dilated and tortuous nidus of AVMs on T 1 WI and T 2 WI. The appearances of hemorrhage were variable. Feeding arteries and draining veins were showed clearly on MRA. The typical sign of cavernous angiomas was mixed signals with hypointensity ring on MRI, while MRA could not provide much information. Conclusions: CT, MRI and MRA had different value in diagnosis of cerebrovascular malformations. CT combined with MRI and MRA could sharply improve the accuracy of diagnosis, and aid in the comprehensive evaluation of cerebrovascular malformations

Congenital Malformations Associated with Maternal Diabetes

Directory of Open Access Journals (Sweden)

Chih-Ping Chen

2005-03-01

Full Text Available Maternal diabetes has toxic effects on the development of the embryo and significantly increases the risk of congenital malformations in humans. The incidence of fetal structural defects caused by maternal pregestational diabetes is three- to fourfold higher than that caused by non-diabetic pregnancy. The congenital malformations associated with diabetic pregnancy arise before the seventh gestational week. Diabetic embryopathy can affect any developing organ system, including the central nervous system (CNS (anencephaly, spina bifida, microcephaly, and holoprosencephaly, skeletal system (caudal regression syndrome, sacral agenesis, and limb defects, renal system (renal agenesis, hydronephrosis, and ureteric abnormalities, cardiovascular system (transposition of the great vessels, ventricular septal defects, atrial septal defects, coarctation of the aorta, cardiomyopathy, and single umbilical artery, and gastrointestinal system (duodenal atresia, anorectal atresia, and small left colon syndrome. Pregnant women with fetuses with diabetic embryopathy may have chronic or unrecognized hyperglycemia and elevated levels of glycerated hemoglobin. This review emphasizes the necessity to consider hyperglycemia-induced teratogenesis during genetic counseling of parents with prenatally detected fetal malformations. Successful preconception counseling for women with diabetes mellitus and metabolic control will reduce birth defects and maternal morbidity.

Developmental malformations of the cerebral cortex

International Nuclear Information System (INIS)

Reiss-Zimmermann, Martin; Weber, D.; Sorge, I.; Hirsch, W.; Merkenschlager, A.

2010-01-01

Migration disorders (MD) are increasingly recognized as an important cause of epilepsy and developmental delay. Up to 25% of children with refractory epilepsy have a cortical malformation. MD encompass a wide spectrum with underlying genetic etiologies and clinical manifestations. Research regarding the delineation of the genetic and molecular basis of these disorders has provided greater insight into the pathogenesis of not only the malformation but also the process involved in normal cortical development. Diagnosis of MD is important since patients who fail three antiepileptic medications are less likely to have their seizures controlled with additional trials of medications and therefore epilepsy surgery should be considered. Recent improvements in neuroimaging have resulted in a significant increase in the recognition of MD. Findings can be subdivided in disorders due to abnormal neurogenesis, neuronal migration, neuronal migration arrest and neuronal organization resulting in different malformations like microcephaly, lissencephaly, schizencephaly and heterotopia. The examination protocol should include T1-w and T2-w sequences in adequate slice orientation. T1-w turbo-inversion recovery sequences (TIR) can be helpful to diagnose heterotopia. Contrast agent is needed only to exclude other differential diagnoses. (orig.)

Surgical excision of a cerebral arteriovenous malformation in a dog

International Nuclear Information System (INIS)

Thomas, W.B.; Schueler, R.O.; Kornegay, J.N.

1995-01-01

A 7-year-old dog was presented with seizures and epistaxis. Computed tomography showed a contrast-enhancing lesion in the cerebrum. An arteriovenous malformation was identified at surgery and resected. A discussion of intracranial arteriovenous malformation is presented

Magnetic resonance venography of congenital vascular malformations of the extremities

International Nuclear Information System (INIS)

Laor, T.; Burrows, P.E.; Hoffer, F.A.

1996-01-01

Contrast angiography can demonstrate the vascular components of a vascular malformation, but can be technically challenging in small patients with complex venous anomalies. We reviewed the role of magnetic resonance venography (MRV) in the evaluation of children with predominantly low-flow, vascular malformations of the extremities. MRV (2D time-of-flight technique) and magnetic resonance (MR) imaging examinations were performed in ten young patients with congential predominantly low-flow vascular malformations of the extremities. MR imaging was used to characterize and determine the extent of the malformations, and MRV to evaluate the deep and superficial venous channels. In all patients, MRV studies were reviewed in conjunction with contrast angiograms, considered the gold standard, to confirm the findings. All signficant channel anomalies seen with contrast angiography were identified with MRV. In addition, MRV demonstrated some veins that were not intentionally opacified during contrast studies. MRV demonstrates both the superficial and deep conducting veins, whereas contrast angiography is a more directed study, evaluating only those channels intentionally opacified. Together, MR imaging and MRV data can non-invasively form the basis for determining the prognosis and choosing the individual treatment of congenital vascular malformations of the extremities. (orig.)

Perinatal risk factors including malformation

International Nuclear Information System (INIS)

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) [de

Congenital Malformations in River Buffalo (Bubalus bubalis

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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.

[Management of occult malformations at the lateral skull base].

Science.gov (United States)

Bryson, E; Draf, W; Hofmann, E; Bockmühl, U

2005-12-01

Occult malformations of the lateral skull base are rare anomalies, but can cause severe complications such as recurrent meningitis. Therefore, they need to be precisely delineated and sufficient surgical closure is mandatory. Between 1986 and 2004 twenty patients (10 children and 10 adults) with occult malformations at the lateral skull base were treated surgically at the ENT-Department of the Hospital Fulda gAG. Of these 3 Mondini-malformations, 11 defects of the tegmen tympani or the mastoidal roof, 2 dural lesions to the posterior fossa and 4 malformations within the pyramidal apex have been found. Four patients have had multiple anomalies. Routing symptom was in all cases at least one previous meningitis. Radiological diagnostics included high-resolution computed tomography (CT) and magnetic resonance imaging (MRI) as well as CT- or MR-cisternography. Depending on type and localisation of the defect the following surgical algorithm was carried out: The trans-mastoidal approach was used in all cases of Mondini-malformation (including obliteration of the ear), in case of lesions to the posterior fossa as well as partly in anomalies at the tegmen tympani and mastoidal roof, respectively. Defects of the pyramidal apex should be explored via the trans-mastoidal way if the lesion is located caudally to the inner auditory canal (IAC), whereas the trans-temporal approach should be used if the lesion is situated ventral to the IAC and dorso-medially to the internal carotid artery (ICA). The trans-temporal approach was also performed in large defects of the tegmen tympani and mastoidal roof as well as in recurrences. In all cases of recurrent meningitis caused by agents of the upper airway tract the basic principle should be to search for occult skull base malformations radiologically as well as by sodium fluorescein endoscopy as long as the anomaly is detected.

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

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

2011-11-01

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

Imaging findings and therapeutic alternatives for peripheral vascular malformations

International Nuclear Information System (INIS)

Monsignore, Lucas Moretti; Nakiri, Guilherme Seizem; Santos, Daniela dos; Abud, Thiago Giansante; Abud, Daniel Giansante

2010-01-01

Peripheral vascular malformations represent a spectrum of lesions that appear through the lifetime and can be found in the whole body. Such lesions are uncommon and are frequently confounded with infantile hemangioma, a common benign neoplastic lesion. In the presence of such lesions, the correlation between the clinical and radiological findings is extremely important to achieve a correct diagnosis, which will guide the best therapeutic approach. The most recent classifications for peripheral vascular malformations are based on the blood flow (low or high) and on the main vascular components (arterial, capillary, lymphatic or venous). Peripheral vascular malformations represent a diagnostic and therapeutic challenge, and complementary methods such as computed tomography, Doppler ultrasonography and magnetic resonance imaging, in association with clinical findings can provide information regarding blood flow characteristics and lesions extent. Arteriography and venography confirm the diagnosis, evaluate the lesions extent and guide the therapeutic decision making. Generally, low flow vascular malformations are percutaneously treated with sclerosing agents injection, while in high flow lesions the approach is endovascular, with permanent liquid or solid embolization agents. (author)

Transcatheter arterial ethanol embolization for congenital renal arteriovenous malformations

International Nuclear Information System (INIS)

Wang Jingbing; Wang Han; An Xiao; Wang Linchuan; Gao Liqiang; Zhou Zhiguo; Zhang Guixiang

2010-01-01

Objective: To discuss the effect and safety of trans-microcatheter arterial embolization with ethanol for the treatment of congenital renal arteriovenous malformations. Methods: Clinical data of 11 patients with congenital renal arteriovenous malformations manifested mainly as gross hematuria were retrospectively analyzed. Selective renal angiography was performed in all 11 patients. After the diagnosis was confirmed, super-selective catheterization of the diseased arteries was carried out and the trans-microcatheter arterial embolization with ethanol was conducted. Results: A total of 12 procedures were completed in 11 patients. The ethanol dose used in one procedure was 5-25 ml. Successful embolization of the congenital renal arteriovenous malformations was obtained in all patients. The gross hematuria disappeared within 24-48 hours after the treatment. Lumbago at treated side, low fever, abdominal distension, nausea, vomiting, etc. occurred within one week and no other serious complications developed. During the follow-up period lasting for 4-96 months, no recurrence of hematuria was observed and the renal function remained normal. Conclusion: Transcatheter arterial ethanol embolization is an economic, safe and effective treatment for congenital renal arteriovenous malformations. (authors)

Síndrome de Budd-Chiari. Avances en el conocimiento de su fisiopatología y nuevas estrategias terapeuticas

OpenAIRE

Hernández Guerra de Aguilar, Manuel

2006-01-01

El síndrome de Budd-Chiari (SBC) es una enfermedad poco frecuente que no obstante afecta a población joven con una alta morbimortalidad. A pesar del gran esfuerzo investigador realizado, quedan aún por hacer avances en el conocimiento fisiopatológico y en el ámbito terapéutico, ambos estrechamente vinculados, que mejoren el pronóstico de estos enfermos. Sin embargo, la baja incidencia de esta enfermedad ha dificultado la realización de estudios prospectivos y la obtención de resultados de in...

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

International Nuclear Information System (INIS)

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. (orig.)

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.

Fetal magnetic resonance imaging of thoracic and abdominal malformations

International Nuclear Information System (INIS)

Woitek, R.; Asenbaum, U.; Furtner, J.; Prayer, D.; Brugger, P.C.

2013-01-01

Diagnosis and differential diagnosis of fetal thoracic and abdominal malformations. Ultrasound and magnetic resonance imaging (MRI). In cases of suspected pathologies based on fetal ultrasound MRI can be used for more detailed examinations and can be of assistance in the differential diagnostic process. Improved imaging of anatomical structures and of the composition of different tissues by the use of different MRI sequences. Fetal MRI has become a part of clinical routine in thoracic and abdominal malformations and is the basis for scientific research in this field. In cases of thoracic or abdominal malformations fetal MRI provides important information additional to ultrasound to improve diagnostic accuracy, prognostic evaluation and surgical planning. (orig.) [de

Classification and Current Management of Inner Ear Malformations

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Levent Sennaroğlu

2017-10-01

Full Text Available Morphologically congenital sensorineural hearing loss can be investigated under two categories. Majority of the congenital hearing loss (80% are membranous malformations. Here the pathology involves inner ear hair cells. There is no gross bony abnormality and therefore, in these cases, high resolution computerized tomography and MRI of the temporal bone reveal normal findings. Remaining 20% have various malformations involving the bony labyrinth and therefore, can be radiologically demonstrated by CT and MRI. The latter group involves surgical challenges as well as problems in decision making. Some cases may be managed by hearing aid, some need cochlear implantation while some cases are candidates for an auditory brainstem implantation. During cochlear implantation, there may be facial nerve abnormalities, cerebrospinal fluid leakage, electrode misplacement or difficulty in finding the cochlea itself. During the surgery for inner ear malformations, surgeon must be ready to modify the surgical approach or choose special electrodes for surgery. In the present review article inner ear malformations are classified according to the differences observed in the cochlea. Hearing and language outcome after various implantation methods is closely related to the status of cochlear nerve and a practical classification of the cochlear nerve deficiency is also provided

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.

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

Prostatic urethra malformation associated with retrograde ejaculation: a case report.

Science.gov (United States)

Zhao, Kai; Zhang, Jianzhong; Xu, Aiming; Zhang, Cheng; Wang, Zengjun

2016-12-21

Retrograde ejaculation can have anatomical, neurogenic, or pharmacological causes. Among these factors, malformation of the prostatic urethra is an uncommon cause. We describe a 29-year-old Han Chinese man with absence of his verumontanum combined with ejaculatory duct cysts, and no other cause for ejaculatory dysfunction. His verumontanum was replaced by a deep groove adjacent to his bladder neck, which could significantly influence bladder neck contraction. In addition, the large cysts in the ejaculatory duct could obstruct the anterior outlet of his prostatic urethra and prevent seminal fluid flow in an anterograde direction. There are few reports of retrograde ejaculation associated with congenital malformations of the posterior urethra. Malformations associated with bladder neck laxity and increased tone of the prostatic urethral outlet can contribute to retrograde ejaculation. Malformation of the prostatic urethra is an uncommon cause of retrograde ejaculation, and can be difficult to treat.

Classification of venous malformations in children and implications for sclerotherapy

Energy Technology Data Exchange (ETDEWEB)

Puig, Stefan [Department of Radiology, University of Vienna, Waehringer Guertel 18-20, 1090 Vienna (Austria); Department of Paediatric Radiology, Hopital Necker-Enfants Malades, Paris (France); Aref, Hussein [Department of Paediatric Radiology, Hopital Necker-Enfants Malades, Paris (France); Department of Radiology, Alexandria Faculty of Medicine, Alexandria (Egypt); Chigot, Valerie; Brunelle, Francis [Department of Paediatric Radiology, Hopital Necker-Enfants Malades, Paris (France); Bonin, Beatrice [Paediatric Maxillofacial Surgery, Trousseau Hospital, Tours (France)

2003-02-01

The purpose of this work is to present a simple and descriptive classification system for venous malformations (VMs) that may serve as a basis for interventional therapy, and to test its usefulness in a sample of consecutively referred paediatric patients. The classification system we developed includes four types: 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. The system was prospectively tested using phlebography in a sample of 43 children and adolescents with VMs who were referred for treatment during a 10-month period. Our hypothesis was that the type of VM would determine whether low-risk sclerotherapy was indicated. Thirteen (30%) patients had a type-I VM, 16 (37%) had a type-II, 9 (21%) had a type-III, and 5 (12%) had a type-IV malformation. In more than 90% of patients with a type-I or type-II lesion, sclerotherapy could be performed without any problems. In one third of patients with a type-III VM, sclerotherapy had to be withheld and one of nine (11%) developed a severe complication after therapy. Of the five patients with type-IV lesions, three (60%) had to be excluded from sclerotherapy. Our initial results indicate that sclerotherapeutic intervention in patients with type-III and type-IV VMs must be carefully considered, while it can be safely performed in low-risk patients with type-I and type-II lesions. (orig.)

Factor V Leiden mutation, prothrombin gene mutation, and deficiencies in coagulation inhibitors associated with Budd-Chiari syndrome and portal vein thrombosis: results of a case-control study

NARCIS (Netherlands)

Janssen, H. L.; Meinardi, J. R.; Vleggaar, F. P.; van Uum, S. H.; Haagsma, E. B.; van der Meer, F. J.; van Hattum, J.; Chamuleau, R. A.; Adang, R. P.; Vandenbroucke, J. P.; van Hoek, B.; Rosendaal, F. R.

2000-01-01

In a collaborative multicenter case-control study, we investigated the effect of factor V Leiden mutation, prothrombin gene mutation, and inherited deficiencies of protein C, protein S, and antithrombin on the risk of Budd-Chiari syndrome (BCS) and portal vein thrombosis (PVT). We compared 43 BCS

Factor V Leiden mutation, prothrombin gene mutation, and deficiencies in coagulation inhibitors associated with Budd-Chiari syndrome and portal vein thrombosis : results of a case-control study

NARCIS (Netherlands)

Janssen, HLA; Meinardi, [No Value; Vleggaar, FP; van Uum, SHM; Haagsma, EB; van der Meer, FJM; van Hattum, J; Chamuleau, RAFM; Adang, RP; Vandenbroucke, JP; van Hoek, B; Rosendaal, FR

2000-01-01

In a collaborative multicenter case-control study, we investigated the effect of factor V Leiden mutation, prothrombin gene mutation, and inherited deficiencies of protein C, protein S, and antithrombin on the risk of Budd-Chiari syndrome (BCS) and portal vein thrombosis (PVT), We compared 43 BCS

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.

Liquid nitrogen cryotherapy for lip mucous membrane venous malformation in infants.

Science.gov (United States)

Zhang, Da-Ming; Wang, You-Yuan; Lin, Zhao-Yu; Yang, Zhao-Hui; Chen, Wei-Liang

2015-03-01

Lip mucous membrane venous malformations are common benign lesions in infants. This clinical study evaluates the efficacy and safety of liquid nitrogen cryotherapy used to treat this condition. A total of 84 pediatric patients undergoing liquid nitrogen cryotherapy for venous malformations involving the lips were reviewed, with 45 males and 39 females treated. The overall median age at mucous membrane venous malformation diagnosis was 5.6 months (range 2-18 months). The venous malformations involved the vermilion of the lower lip in 44 cases, the vermilion of the upper lip in 31 cases, and both vermilions in 9 cases. No complications due to anesthesia occurred. After a follow-up period of 2-38 months (mean 25 months), 65 lesions (77.4 %) were completely involuted, 14 lesions (16.7 %) were mostly involuted, and 5 lesions (5.9 %) were partially involuted; no lesions showed a minor amount of involution. Liquid nitrogen cryotherapy is an effective, simple, and safe management tool for mucous membrane venous malformations of the lip in infants.

Congenital non-central nervous system malformations in cerebral palsy: a distinct subset?

Science.gov (United States)

Self, Lauren; Dagenais, Lynn; Shevell, Michael

2012-08-01

The aim of this article was to identify and contrast the subset of children with cerebral palsy (CP) and non-central nervous system (CNS) congenital malformations with children with CP but no coexisting non-CNS congenital malformations. A population-based regional comprehensive CP registry was used to identify children with CP who had non-CNS congenital malformations (n = 34; 19 males, 15 females; 22 classified as Gross Motor Function Classification System [GMFCS] levels I-III, 12 as GMFCS level IV or V). Their clinical features were then compared with other children with CP without non-CNS congenital malformations (n = 207; 115 males, 92 females; 138 classified as GMFCS levels I-III, 69 as GMFCS level IV or V). Children with CP and non-CNS congenital malformations did not differ from those without in terms of neurological subtype distribution or functional severity, as measured by the GMFCS. Also, there was no association with previous maternal infections (i.e. toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus 2 [TORCH]), maternal fever, use of illicit substances, asphyxia, neonatal encephalopathy, intraventricular haemorrhage, or septicaemia. The incidence of comorbidities such as convulsions, communication difficulties, gavage feeding, cortical blindness, and auditory impairment was not higher in this subgroup. The incidence of congenital non-CNS malformations among children with CP is appreciable. Children with these non-CNS malformations do not appear to differ from other children with CP regarding neurological subtype, functional severity, and comorbidities, or maternal or obstetrical factors. Thus, the specific presence of a non-CNS congenital malformation does not appear to assist the practitioner in the management or understanding of a child's CP. © The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press.

Developmental biology and the study of malformations.

Science.gov (United States)

Hughes, A F

1976-05-01

Experimental work on abnormal conditions of incubation in the chick has been undertaken to acquire a scientific approach to malformations. More precise experiments on causing abnormalities had a common origin with experimental embryology. Progress in experimental teratology during the last 50 years is reviewed in a commentary on the 4 principles formulated by Stockard in 1921. The results of cytogenetical studies in man and in other organisms have led to the tracing of some relationships between them. Present knowledge concerning malformations of the neural tube, originating either experimentally, spontaneously, or phenotypically, has been presented and the teratological implications of some recent theories on the expression of the genotype are discussed in particular reference to problems of hormones as teratogens, the implication of carbohydrate metabolism, and teratogenesis. It is speculated that teratogenesis is possibly related to cationic balance in early development and that 1 factor retarding progress in the understanding of malformations is the tendency toward the development of teratology in an adequately close relationship with other branches of cell biology.

Budd-Chiari syndrome and secondary nodular regenerative hyperplasia of the liver. Case report with special reference to diagnostic imaging

International Nuclear Information System (INIS)

Mutze, A.; Rueckert, R.; Rudolph, B.; Paris, S.; Podrabski, P.

1993-01-01

Nodular regenerative hyperplasia is a benign epithelial proliferation of the liver with unknown etiology. We observed a female patient with Budd-Chiari syndrome and secondary nodular regenerative hyperplasia of the liver over a period of five years. Patient history, diagnostic imaging (sonography, CT, MR imaging, angiography), and clinical course are demonstrated along with results of macroscopic and microscopic studies of explanted liver prior to liver transplantation. The patient presented with various predisposing factors in combination that favour the development of nodular regenerative hyperplasia. (orig.) [de

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....

Intramuscular vascular malformations of an extremity: findings on MR imaging and pathologic correlation

International Nuclear Information System (INIS)

Kim, E.Y.; Ahn, J.M.; Yoon, H.K.; Do, Y.S.; Kim, S.H.; Choo, S.W.; Choo, I.W.; Suh, Y.L.; Kim, S.M.; Kang, H.S.

1999-01-01

Objective. To analyze the findings of intramuscular vascular malformations of an extremity on MR imaging and to correlate these findings with histopathologic examination.Design and patients. The findings on MR imaging and the medical records of 14 patients with an intramuscular vascular malformation of the extremity were retrospectively studied. All patients underwent surgical excision. Diagnoses were based on the results of pathologic examination. Findings on MR imaging were noted and correlated with the histopathologic findings.Results. Intramuscular vascular malformations of an extremity showed multi-septate, honeycomb, or mixed appearance on MR imaging. Multi-septate areas correlated with dilated and communicating vascular spaces with flattened endothelium. Honeycomb areas corresponded to vascular spaces with inconspicuous small lumina and thickened vascular walls. Areas of increased signal intensity on T2-weighted images were found in all intramuscular vascular malformations. Infiltrative margins were more commonly seen in intramuscular lymphaticovenous malformations. Adherence to neurovascular structures and orientation of the lesion along the long axis of the affected muscle were more commonly seen in intramuscular venous malformations.Conclusions. Intramuscular vascular malformations showed either a multi-septate, honeycomb, or mixed appearance, reflecting the size of the vascular spaces and the thickness of the smooth muscles of the vessel walls. Prediction of the subtype of an intramuscular vascular malformation of an extremity on MR imaging seems to be difficult, although there are associated findings that may be helpful in the differential diagnosis of each subtype. (orig.)

Spinal level of myelomeningocele lesion as a contributing factor in posterior fossa volume, intracranial cerebellar volume, and cerebellar ectopia.

LENUS (Irish Health Repository)

Sweeney, Kieron J

2013-02-01

McLone and Knepper\\'s unified theory of Chiari malformation Type II (CM-II) describes how the loss of CSF via the open posterior neuropore fails to create adequate distending pressure for the developing rhomboencephalic vesicle. The authors of the present article describe the relationship between the posterior fossa volume and intracranial cerebellar volume as being related to the distance from the obex of the fourth ventricle to the myelomeningocele lesion using a common mathematical model, the Hagen-Poiseuille law.

Congenital pulmonary airway malformation in a 36 year-old female

OpenAIRE

Barreiro, Timothy J.; Henn, Lucas; Ingnam, Sisham; Sypert, Michael

2015-01-01

Congenital pulmonary airway malformation (CPAM), previously known as congenital cystic adenomatoid malformation (CCAM), is an inborn abnormality of the lower respiratory system. Most often diagnosed in the perinatal period, these anomalies usually present with tachypnea, cyanosis, and respiratory distress. However, rare cases are asymptomatic and undiagnosed until adulthood.

[Multi-channel cochlear implants in patients with Mondini malformation].

Science.gov (United States)

Li, Yong-xin; Han, De-min; Zhao, Xiao-tian; Chen, Xue-qing; Kong, Ying; Zheng, Jun; Liu, Bo; Liu, Sha; Mo, Ling-yan; Zhang, Hua; Wang, Shuo

2004-02-01

To describe clinical experiences with multi-channel cochlear implantation in patients with Mondini malformation. Among 300 patients who received multi-channel cochlear implants from 1996 to 2002 in Beijing Tongren Hospital, 15 patients were diagnosed with Mondini malformation. A retrospective analysis was performed dealing with the surgical techniques, mapping and rehabilitations characteristics after surgery. 15 patients with normal cochlear structure are consider as control group. Gusher is found more common than the normal cochlear implantation, most of them are serious. The electrodes are inserted in the "cochleostomy" in full length of 13 Patients, 2 pairs of electrodes remains outside of "cochleostomy" in 2 patients. No serious complications occurred after implantation. All patients have auditory sensations. The impedance of the electrodes, the T level, C level and the hearing threshold are similar with the normal cochlear implantation group. The results have no significant difference in compare with normal cochlear group(P > 0.05). Multi-channel cochlear implantation could be performed safely in patients with Mondini malformation. The primary outcome for patients with Mondini malformation are similar to those with normal cochlear structure following the multi-channel cochlear implantation.

Three-dimensional spiral CT of craniofacial malformations in children

International Nuclear Information System (INIS)

Binaghi, S.; Gudinchet, F.

2000-01-01

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.)

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. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

CT analysis of 333 cases of congenital malformations of the external and middle ear

International Nuclear Information System (INIS)

Zou Xin; Li Qiang; Wang Zhenchang; Xian Junfang; Lan Baosen

1997-01-01

To analyze the different CT findings of congenital malformations of the external and middle ear, 333 cases including 404 ears with external and middle ear malformations diagnosed by high resolution CT (HRCT) were analysed according to the location and type of the malformation. In 404 ears, there were 364 ears with atresia of external auditory meatus, 40 ears with stenosis of external auditory meatus, 377 ears with malformation of the ossicles, 382 ears with stenosis of tympanum and 333 ears with anterior position of the mastoid segment of the facial canal. HRCT can show the location and type of external and middle ear malformation and provide valuable information for surgery

Utility of the angio resonance in the diagnose of the vascular malformations

International Nuclear Information System (INIS)

Delgado de B, Jorge Andres; Pulgarin, Luis German; Toro, Nancy; Bolivar Guillermo

1997-01-01

Vascular malformations (VMS) can be successfully evaluated with a combination of magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA). The MRA gives good anatomic information while the MRA gives important functional and complementary structural information. The main objectives in a radiological evaluation of the (VMS) is to offer data about the feeding arteries, size and location of the nidus of some malformation, the morphology and the type of venous drainage and other important features that may have therapeutic and prognostic value. From a total of 186 MRA performed in our institution (IATM) from January of 1994 to June 1996, we have diagnosed 17 vascular malformations, most of them categorized as arteriovenous malformations (11 cases) the others were developmental venous anomalies (5 cases of venous angiomas) and one case of a cavernous malformation. Previous imaging did not identify many of the VMS detected by MRA. MRI-MRA is the most sensitive and specific non-invasive method for the evaluation of this congenital lesion

Brain Vascular Malformation Consortium: Overview, Progress and Future Directions.

Science.gov (United States)

Akers, Amy L; Ball, Karen L; Clancy, Marianne; Comi, Anne M; Faughnan, Marie E; Gopal-Srivastava, Rashmi; Jacobs, Thomas P; Kim, Helen; Krischer, Jeffrey; Marchuk, Douglas A; McCulloch, Charles E; Morrison, Leslie; Moses, Marsha; Moy, Claudia S; Pawlikowska, Ludmilla; Young, William L

2013-04-01

Brain vascular malformations are resource-intensive to manage effectively, are associated with serious neurological morbidity, lack specific medical therapies, and have no validated biomarkers for disease severity and progression. Investigators have tended to work in "research silos" with suboptimal cross-communication. We present here a paradigm for interdisciplinary collaboration to facilitate rare disease research. The Brain Vascular Malformation Consortium (BVMC) is a multidisciplinary, inter-institutional group of investigators, one of 17 consortia in the Office of Rare Disease Research Rare Disease Clinical Research Network (RDCRN). The diseases under study are: familial Cerebral Cavernous Malformations type 1, common Hispanic mutation (CCM1-CHM); Sturge-Weber Syndrome (SWS); and brain arteriovenous malformation in hereditary hemorrhagic telangiectasia (HHT). Each project is developing biomarkers for disease progression and severity, and has established scalable, relational databases for observational and longitudinal studies that are stored centrally by the RDCRN Data Management and Coordinating Center. Patient Support Organizations (PSOs) are a key RDCRN component in the recruitment and support of participants. The BVMC PSOs include Angioma Alliance, Sturge Weber Foundation , and HHT Foundation International . Our networks of clinical centers of excellence in SWS and HHT, as well as our PSOs, have enhanced BVMC patient recruitment. The BVMC provides unique and valuable resources to the clinical neurovascular community, and recently reported findings are reviewed. Future planned studies will apply successful approaches and insights across the three projects to leverage the combined resources of the BVMC and RDCRN in advancing new biomarkers and treatment strategies for patients with vascular malformations.

Congenital malformation of the systemic heart of Sepia officinalis l ...

African Journals Online (AJOL)

Numerous preparations of the circulatory system of Sepia officinalis L. caught from the Bay of Arcachon (Atlantic Coast of France) in 1989 and 1996 showed an obvious congenital malformation of the systemic heart complex. The malformation consisted of a cord- or truncus-like structure at the left cranio-apical ventricle.

Congenital malformations associated with assisted reproductive technology: a California statewide analysis.

Science.gov (United States)

Kelley-Quon, Lorraine I; Tseng, Chi-Hong; Janzen, Carla; Shew, Stephen B

2013-06-01

Management of congenital malformations comprises a large part of pediatric surgical care. Despite increasing utilization of assisted reproductive technology (ART) and fertility-related services (FRS), associations with birth defects are poorly understood. Infants born after ART or FRS were identified from the California Linked Birth Cohort Dataset from 2006 to 2007 and compared to propensity matched infants conceived naturally. Factors associated with major congenital malformations were evaluated using Firth logistic regression. With a cohort of 4,795 infants born after ART and 46,025 naturally conceived matched controls, major congenital malformations were identified in 3,463 infants. Malformations were increased for ART infants (9.0% vs. 6.6%, pmalformations overall (OR 1.25, 95% CI 1.12-1.39), specifically defects of the eye (OR 1.81, 95% CI 1.04-3.16), head and neck (OR 1.37, 95% CI 1.00-1.86), heart (OR 1.41, 95% CI 1.22-1.64), and genitourinary system (OR 1.40, 95% CI 1.09-1.82). The likelihood of birth defects was increased for multiples (OR 1.35, 95% CI 1.18-1.54) and not singletons. Odds of congenital malformation after FRS alone (n=1,749) were non-significant. ART contributes a significant risk of congenital malformation and may be more pronounced for multiples. Accurate counseling for parents considering ART and multidisciplinary coordination of care prior to delivery are warranted. Copyright © 2013 Elsevier Inc. All rights reserved.

PTA and stenting for various types of Budd-Chiari syndrome

International Nuclear Information System (INIS)

Zhang Xinbao

2011-01-01

Objective: To investigate and evaluate PTA and stenting for various types of Budd-Chiari syndrome (BCS). Methods: 89 patients with BCS were diagnosed and treated during 7 years. The interventional procedures included: Percutaneous balloon dilatation (PBD) of inferior vena cava (IVC), PBD and stent placement for IVC, hepatic vein angioplasty via trans jugular vein, hepatic vein angioplasty via transhepatic and trans jugular approach, accessory hepatic vein angioplasty, percutaneous dual balloon dilatation for IVC and hepatic vein, and percutanous dual stent placement for IVC and hepatic vein. Results: The achievement ratio of PTA and stent placement was 96% and the mortality was 0%. The serious complication of PTA and stent placement of BCS was penetration into the pericardium, endovascular stent migration into right atrium. Conclusion: 1. PTA is a reliable procedures in treating type I a, II and III BCS, and TIPPS is useful for type I b BCS. But PTA and stenting is necessary for patients with type IV BCS. 2. Thrombolysis is needed for patients with type III, IV BCS. 3. Guiding of Color Doppler Ultrasound can improve the success of percutanous hepatic vein and reduce complications. (authors)

[Cochlear implant in patients with congenital malformation of inner ear].

Science.gov (United States)

Han, Dong-yi; Wu, Wen-ming; Xi, Xin; Huang, De-liang; Yang, Wei-yan

2004-02-01

To study surgical difficulty and key of the cochlear implant in patients with congenital malformation of inner ear. The cochlear implantations were performed in our department from Jan. 2001 to Apr. 2003 for 18 patients with the malformation of inner ear. In this series, there were 11 cases of large vestibular aqueduct syndrome (LVAS), 3 cases of Waardenberg syndrome, 3 cases of Mondini malformation, and 1 case of Usher syndrome. All 18 patients accepted the Nucleus 24-channel cochlear implantations, including Nucleus straight electrode in 13 cases but Contour implantation in 5 cases of LVAS. During operations, leakage of perilymph but not cerebrospinal fluid (CSF) from the open of scala tympani occurred in 11 cases of LVAS, however, the electrode was inserted successfully. The abnormalities of round window occurred in one of 3 cases of Waardenberg syndrome and 3 cases of Mondini malformation, respectively. The cochlear implant could be conducted successfully for the LVAS, and the postoperative effect was same as the ones for the deafness persons with normal development of inner ear. However, for the patients with Mondini syndrome and common cavity, it is important to accurately assess the extent of abnormalities in the inner ear and accompanied malformation before operation, and to evaluate the full extent of difficulties of the operation in order to minimize the risk of CSF leakage and meningitis.

Kidney and Urinary Tract Congenital Malformations. Diagnosis and Evolution. 1999- 2005

International Nuclear Information System (INIS)

Aguilera Bauza, Mirna Pilar; Pena Perez, Raul; Ramirez Prieto, Juan Romelio; Martinez Feria, Rafael; Parra Cruz, Mariela; Pena Hernandez, Miguel Antonio

2008-01-01

A descriptive study in 351 patients at the Nephrology and Urology Services at 'Octavio de la Concepcion de la Pedraja' Teaching Pediatric Hospital from January 1999 to December 2005, was carried out. 535 kidney and urinary tract congenital malformations of 19 types were diagnosed. Primary vesicoureteral reflux and ureteropyelic stenosis were the most frequently malformations. The majority of these patients were diagnosed during the first year of the life. The most frequently clinic manifestation was urinary tract infection. Ultrasound study and cystouretrography were effective to diagnose these malformations. The majority of patients with prenatal diagnosis had congenital hydronephrosis. Posterior urethral valves were the principal cause of chronic renal failure. The I, II and III grades of Primary Vesicoureteral Reflux disappeared spontaneously with conservative treatment. There was a direct relationship between Reflux Nephropathy and the grade of these malformations

Simultaneous and sequential hemorrhage of multiple cerebral cavernous malformations: a case report.

Science.gov (United States)

Louis, Nundia; Marsh, Robert

2016-02-09

The etiology of cerebral cavernous malformation hemorrhage is not well understood. Causative physiologic parameters preceding hemorrhagic cavernous malformation events are often not reported. We present a case of an individual with sequential simultaneous hemorrhages in multiple cerebral cavernous malformations with a new onset diagnosis of hypertension. A 42-year-old white man was admitted to our facility with worsening headache, left facial and tongue numbness, dizziness, diplopia, and elevated blood pressure. His past medical history was significant for new onset diagnosis of hypertension and chronic seasonal allergies. Serial imaging over the ensuing 8 days revealed sequential hemorrhagic lesions. He underwent suboccipital craniotomy for resection of the lesions located in the fourth ventricle and right cerebellum. One month after surgery, he had near complete resolution of his symptoms with mild residual vertigo but symptomatic chronic hypertension. Many studies have focused on genetic and inflammatory mechanisms contributing to cerebral cavernous malformation rupture, but few have reported on the potential of hemodynamic changes contributing to cerebral cavernous malformation rupture. Systemic blood pressure changes clearly have an effect on angioma pressures. When considering the histopathological features of cerebral cavernous malformation architecture, changes in arterial pressure could cause meaningful alterations in hemorrhage propensity and patterns.

Functional Magnetic Resonance Imaging in the Presurgical Evaluation of Brain Vascular Malformations

International Nuclear Information System (INIS)

Montes, Natalia; Herrera, Diego A; Vargas Sergio A

2010-01-01

Objective: To describe our experience in presurgical evaluation of intracranial vascular malformations by means of functional magnetic resonance (fMRI). Method: To evaluate eight patients with cerebral vascular malformations (seven arterio-venous malformation [AVM ] and one cavernous malformation) to send to the eloquent cortex with RMf pre-surgical mapping is assessed. Used a technique that is dependent on the level of oxygen (BOLD) to locate these areas in the cerebral vascular malformation, by applying different paradigms. Results: We found one AVM at the right temporal lobe with activation of the parahipocampal gyrus at the contralateral side using a memory paradigm; another patient with an AVM at the right mesotemporal lobe showed activation of visual and spatial memory of the contralateral hippocampus and parahippocampus. One patient with an AVM at the left parietal lobe without compromise of sensorial and motor cortex; a cavernous malformation at the left angular gyrus with hemispheric language dominance in that side; one right thalamic AVM, one periventricular AVM bilateral language dominance; one left occipital AVM with decreased activation in visual association cortex; one temporoccipital AVM with left language dominance and neurovascular uncoupling. Conclusion: fMRI can delineate anatomically the relationship between the lesion and eloquent cortex, providing useful information for presurgical planning and allowing risk estimation of intervention.

Espasmo hemifacial e impressão basilar associados a malformação de arnold-chiari relato de caso

Directory of Open Access Journals (Sweden)

Manoel Baldoino Leal Filho

1992-09-01

Full Text Available Os autores relatam o caso de uma paciente com espasmo hemifacial e impressão basilar associados a malformação de Arnold-Chiari. Com a descompressão cirúrgica da fossa posterior, empregada no tratamento da impressão basilar, houve melhora do quadro clínico e o espasmo hemifacial se reduziu quanto à frequência, duração e intensidade. É enfatizada a necessidade do tratamento etiológico do espasmo hemifacial, antes de se recorrer à toxina botulínica.

Monotherapy treatment of epilepsy in pregnancy: congenital malformation outcomes in the child.

Science.gov (United States)

Weston, Jennifer; Bromley, Rebecca; Jackson, Cerian F; Adab, Naghme; Clayton-Smith, Jill; Greenhalgh, Janette; Hounsome, Juliet; McKay, Andrew J; Tudur Smith, Catrin; Marson, Anthony G

2016-11-07

There is evidence that certain antiepileptic drugs (AEDs) are teratogenic and are associated with an increased risk of congenital malformation. The majority of women with epilepsy continue taking AEDs throughout pregnancy; therefore it is important that comprehensive information on the potential risks associated with AED treatment is available. To assess the effects of prenatal exposure to AEDs on the prevalence of congenital malformations in the child. We searched the Cochrane Epilepsy Group Specialized Register (September 2015), Cochrane Central Register of Controlled Trials (CENTRAL) (2015, Issue 11), MEDLINE (via Ovid) (1946 to September 2015), EMBASE (1974 to September 2015), Pharmline (1978 to September 2015), Reprotox (1983 to September 2015) and conference abstracts (2010-2015) without language restriction. We included prospective cohort controlled studies, cohort studies set within pregnancy registries and randomised controlled trials. Participants were women with epilepsy taking AEDs; the two control groups were women without epilepsy and women with epilepsy who were not taking AEDs during pregnancy. Three authors independently selected studies for inclusion. Five authors completed data extraction and risk of bias assessments. The primary outcome was the presence of a major congenital malformation. Secondary outcomes included specific types of major congenital malformations. Where meta-analysis was not possible, we reviewed included studies narratively. We included 50 studies, with 31 contributing to meta-analysis. Study quality varied, and given the observational design, all were at high risk of certain biases. However, biases were balanced across the AEDs investigated and we believe that the results are not explained by these biases.Children exposed to carbamazepine (CBZ) were at a higher risk of malformation than children born to women without epilepsy (N = 1367 vs 2146, risk ratio (RR) 2.01, 95% confidence interval (CI) 1.20 to 3.36) and women with

Surgical Treatment for a Complex Congenital Arteriovenous Malformation of the Lower Limb

OpenAIRE

Ozcan, Ali Vefa; Boysan, Emre; Isikli, Osman Yasar; Goksin, Ibrahim

2013-01-01

Arteriovenous fistula is defined as an abnormal communication between the arterial and venous systems. The complexity of congenital arteriovenous malformations makes treatment challenging. We present the case of a 23-year-old woman who had a complex congenital arteriovenous malformation in her left leg and a history of 2 unsuccessful coil-embolization procedures. We ligated all the feeding arteries of the arteriovenous malformation in the region of the superficial femoral artery, and the surg...

Congenital Pulmonary Malformation in Children

OpenAIRE

Nadeem, Montasser; Elnazir, Basil; Greally, Peter

2012-01-01

Congenital Pulmonary Malformations (CPMs) are a group of rare lung abnormalities affecting the airways, parenchyma, and vasculature. They represent a spectrum of abnormal development rather than discrete pathological entities. They are caused by aberrant embryological lung development which occurs at different stages of intrauterine life.

Parental Subfertility, Fertility Treatment, and the Risk of Congenital Anorectal Malformations

NARCIS (Netherlands)

Wijers, Charlotte H. W.; van Rooij, Iris A. L. M.; Rassouli, Roxana; Wijnen, Marc H.; Broens, Paul M. A.; Sloots, Cornelius E. J.; Brunner, Han G.; De Blaauw, Ivo; Roeleveld, Nel

Background: Fertility treatment seems to play a role in the etiology of congenital anorectal malformations, but it is unclear whether the underlying parental subfertility, ovulation induction, or the treatment itself is involved. Therefore, we investigated the odds of anorectal malformations among

A case report of secondary Budd-Chiari syndrome due to chronic empyema diagnosed by NMR-CT

International Nuclear Information System (INIS)

Takagi, Sayumi; Hattori, Akira; Yamauchi, Masayosi; Kimura, Kazuo; Suzino, Hajime; Sibata, Koji; Watanabe, Reijiro; Kameda, Haruo

1985-01-01

A 34-year-old male patient complained of general fatigue, ascites, and edema of the lower extremities. A chest x-ray film showed atelectasis of the right lung and pleural effusion of the right side. Liver ultrasonography revealed stenosis of the middle and right hepatic veins. Venacavography revealed stenosis of the inferior vena cava and collateral circulation. Finally, abdominal NMR-CT clearly visualized lunate stenosis and antero-lateral deviation of the inferior vena cava. He was diagnosed as having secondary Budd-Chiari syndrome resulting from the deviation and stenosis of the inferior vena cava due to distortion of the surrounding tissues by the thickened pleura which was caused by chronic empyema. (Namekawa, K.)

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.)

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

Science.gov (United States)

Bay, Ali; Aktekin, Elif; Erkutlu, Ibrahim

2015-12-01

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

Arnold-Chiari-II malformation and cognitive functioning in spina bifida.

NARCIS (Netherlands)

Vinck, A.; Maassen, B.A.M.; Mullaart, R.A.; Rotteveel, J.J.

2006-01-01

Spina bifida is a multifaceted neurological condition with complex neuropsychological sequelae. The cognitive outcome in spina bifida has frequently been attributed to the severity of the hydrocephalus. However, because of complex neuropathology, the influence of hydrocephalus alone does not

Abortion, premature delivery, stillborn, and malformations

International Nuclear Information System (INIS)

Sato, Yukio

1992-01-01

Since A-bomb disaster in Hiroshima and Nagasaki, genetic effects of A-bomb radiation have been investigated in the offspring of A-bomb survivors. This paper outlines the results of the previous studies in the context of the historical backgrounds. An earlier survey using a cohort of 71,280 children of Hiroshima and Nagasaki A-bomb survivors and a suitable control population of non-exposed 55,870 persons have dealt with the stillborn, neonate death, 9-month-old infant death, malformations at birth and 9 months after birth, and sex ratio in F 1 offspring; it was found that there was no significant difference in these items between the exposed and non-exposed groups. The other survey using fetal and neonatal autopsy cases has revealed that the incidence of malformations was significantly higher in children born to A-bomb survivors than those of the control population (18.5% vs 11.0%); however, there was no evidence of genetic abnormalities specific to the group of A-bomb survivors. Until now, no definitive conclusions of the sex ratio at birth have been drawn. Regarding height in F 1 offspring, no significant difference existed between the exposed and non-exposed groups. Nor was there significant difference in malformations in F 1 and F 2 offspring between the group of A-bomb survivors and the suitable control group. (N.K.)

Prenatal diagnosis of congenital cystic adenomatoid malformation of the lung: A case report

International Nuclear Information System (INIS)

Shin, Hyun Ja; Shin, M. J.; Yoo, Y. J.; Park, J. M.; Kim, J. R.

1990-01-01

Congenital cystic adenomatoid malformation is one of a rare congenital malformation usually unilateal in volving a part of lobe or a whole lobe of the fetal lung, characterized by excessive growing of terminal respiratory element. We made a prenatal diagnosis in a case of congenital cystic adenomdtoid malformation with diffuse bilateral involvement, Stocker Type III which is associated with fetal hydrops

Clinical application of Inoue-balloon in percutaneous transluminal angioplasty for Budd-Chiari syndrome

International Nuclear Information System (INIS)

Mei Jian; Qu Jian; Zhu Yaoqing; Wang Lei; Liu Cheng

2007-01-01

Objective: To investigate the feasibility and effect of recanalization of inferior vena cava with percutaneous transluminal angioplasty(PTA)by Inoue-balloon. Methods: Eighty-nine patients with Budd-chiari syndrome (BCS )were treated with PTA by Inoue-balloon. Results: After PTA, the median (interquartile range)diameter of hepatic segment inferior vena cava increased from 0.00 (0.20-0.00) cm to 1.90 (2.00 1.47)cm; (P < 0.001), and the mean pressure of inferior vena cava reduced from (20.63 ± 7.22) mmHg to (12.13 ± 5.60) mmHg; (P < 0.001); with only less serious complications as rupture in two cases and without need of prior minor diameter balloon dilation in Inoue-balloon PTA. Conclusion: The advantages of Inoue- balloon PTA for BCS are more reliable and facile than those of polyethylene balloon, and may take the place in the foreseen future. (authors)

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......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...... from 1997 to 2004. All women with at least one prescription of trimethoprim dispensed during the 12 weeks before conception were identified. Results. There was a doubling of congenital malformations in offspring to women exposed to trimethoprim in the 12 weeks before conception. The adjusted odds ratio...

Imaging diagnosis of venous malformation in head and neck

International Nuclear Information System (INIS)

Ha, Doo Hoe; Kim, Dong Ik; Suh, Jung Ho; Jung, Tae Sub

1992-01-01

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 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

Placenta previa and risk of major congenital malformations among singleton births in Finland.

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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.

Antithyroid Drugs and Congenital Malformations: A Nationwide Korean Cohort Study.

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Seo, Gi Hyeon; Kim, Tae Hyuk; Chung, Jae Hoon

2018-03-20

Untreated or insufficiently treated Graves disease in pregnancy may pose risks to both mother and fetus. Antithyroid drugs (ATDs) are the treatment mainstay, but the potential teratogenic effect of these drugs has prompted clinicians to question the safe management of this vulnerable population. To examine the association between maternal prescriptions for ATDs and congenital malformations in live births. Nationwide cohort study. Korean National Health Insurance database. A cohort of 2 886 970 completed pregnancies linked to live-born infants in 2 210 253 women between 2008 and 2014. Maternal prescriptions for ATDs in the first trimester. The risk for overall and organ-specific congenital malformations in offspring, with logistic regression models used to control for potential confounders. 12 891 pregnancies (0.45%) were exposed to ATDs during the first trimester. The prevalence of malformations in exposed offspring was 7.27%, compared with 5.94% in offspring of women who were not prescribed ATDs during pregnancy (P 495 mg) during the first trimester was associated with an increased risk for malformations compared with a low dose (1 to 126 mg) (adjusted odds ratio, 1.87 [CI, 1.06 to 3.30]). The study used a prescription claims database to assess ATD exposure. Exposure to ATDs during the first trimester was associated with increased risk for congenital malformations, particularly for pregnancies in which women received prescriptions for MMI or both ATDs. None.

[Influential factors on congenital gastrointestinal malformation:a hospital-based case-control study].

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Jiang, Xuejin; Xu, Guang; Shen, Lijun; Wu, Jing; Chen, Hui; Wang, Youjie

2014-01-01

To investigate the influential factors on congenital gastrointestinal malformation and to provide evidences for prevention. A hospital-based case-control study was conducted among infants with or without congenital gastrointestinal malformation at Children's hospital of Hunan province, from April 2011 to August 2012. Parents of 120 cases with congenital gastrointestinal malformation and another 170 controls were asked to fill in a questionnaire. Data was analyzed using SPSS 18.0 software. Congenital gastrointestinal malformation was associated with intakes of maternal medication (OR = 3.35, 95%CI:1.51-7.41) and folic acid (OR = 0.28, 95%CI:0.15-0.52), exposure to paints (OR = 5.05, 95%CI:1.32-19.29) and pesticides (OR = 15.20, 95%CI:1.55-148.99) prior to or during pregnancy, and also associated with medication intake of the father (OR = 3.70, 95% CI:1.13-12.10), smoking (OR = 2.39, 95% CI:1.24-4.62), drinking alcohol (OR = 2.47, 95% CI:1.20-5.07), exposure to the agents for indoor cleaning (OR = 16.42, 95% CI:1.71-157.92) and exposure to paints (OR = 9.92, 95% CI:2.66-36.98) before conception. Congenital gastrointestinal malformation was affected by multiple factors. Potential risk factors for congenital gastrointestinal malformation would include intakes of medication by the pregnant mother, exposure to paints exposure and pesticide exposure before or during pregnancy, and medication intake by the father, smoking, drinking alcohol, exposure to indoor cleaning agents/paint before conception. The amount of folic acid intake by mother before or during pregnancy was likely to reduce the risk for congenital gastrointestinal malformation.

Congenital Pulmonary Malformation in Children

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Montasser Nadeem

2012-01-01

Full Text Available Congenital Pulmonary Malformations (CPMs are a group of rare lung abnormalities affecting the airways, parenchyma, and vasculature. They represent a spectrum of abnormal development rather than discrete pathological entities. They are caused by aberrant embryological lung development which occurs at different stages of intrauterine life.

Defining the molecular pathologies in cloaca malformation: similarities between mouse and human

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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

Uterine arteriovenous malformation as a rare cause of genital bleeding

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Rodriguez, A.; Escartin, I.; Riazuelo, G.; Zaragozano, R.

2002-01-01

Uterine arteriovenous malformation is a rarely described entity, the presenting sign of which is usually genital bleeding. We report a case of this malformation in a woman of child-bearing age with a history of traumatic delivery and repeated subsequent curettage, describing the ultrasound, computed tomography and magnetic resonance findings, as well as the results of arteriography. (Author) 5 refs

NAD Deficiency, Congenital Malformations, and Niacin Supplementation.

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Shi, Hongjun; Enriquez, Annabelle; Rapadas, Melissa; Martin, Ella M M A; Wang, Roni; Moreau, Julie; Lim, Chai K; Szot, Justin O; Ip, Eddie; Hughes, James N; Sugimoto, Kotaro; Humphreys, David T; McInerney-Leo, Aideen M; Leo, Paul J; Maghzal, Ghassan J; Halliday, Jake; Smith, Janine; Colley, Alison; Mark, Paul R; Collins, Felicity; Sillence, David O; Winlaw, David S; Ho, Joshua W K; Guillemin, Gilles J; Brown, Matthew A; Kikuchi, Kazu; Thomas, Paul Q; Stocker, Roland; Giannoulatou, Eleni; Chapman, Gavin; Duncan, Emma L; Sparrow, Duncan B; Dunwoodie, Sally L

2017-08-10

Congenital malformations can be manifested as combinations of phenotypes that co-occur more often than expected by chance. In many such cases, it has proved difficult to identify a genetic cause. We sought the genetic cause of cardiac, vertebral, and renal defects, among others, in unrelated patients. We used genomic sequencing to identify potentially pathogenic gene variants in families in which a person had multiple congenital malformations. We tested the function of the variant by using assays of in vitro enzyme activity and by quantifying metabolites in patient plasma. We engineered mouse models with similar variants using the CRISPR (clustered regularly interspaced short palindromic repeats)-Cas9 system. Variants were identified in two genes that encode enzymes of the kynurenine pathway, 3-hydroxyanthranilic acid 3,4-dioxygenase (HAAO) and kynureninase (KYNU). Three patients carried homozygous variants predicting loss-of-function changes in the HAAO or KYNU proteins (HAAO p.D162*, HAAO p.W186*, or KYNU p.V57Efs*21). Another patient carried heterozygous KYNU variants (p.Y156* and p.F349Kfs*4). The mutant enzymes had greatly reduced activity in vitro. Nicotinamide adenine dinucleotide (NAD) is synthesized de novo from tryptophan through the kynurenine pathway. The patients had reduced levels of circulating NAD. Defects similar to those in the patients developed in the embryos of Haao-null or Kynu-null mice owing to NAD deficiency. In null mice, the prevention of NAD deficiency during gestation averted defects. Disruption of NAD synthesis caused a deficiency of NAD and congenital malformations in humans and mice. Niacin supplementation during gestation prevented the malformations in mice. (Funded by the National Health and Medical Research Council of Australia and others.).

Prenatal diagnosis of concurrent facial and cerebral vascular malformation which caused congestive heart failure

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Behnaz Moradi

2017-12-01

Full Text Available Arteriovenous malformations (AVMs are rarely reported antenatally. Most in utero diagnosis of vascular malformation is related to vein of Galen malformation (VGM. We describe a case of simultaneously diagnosed pial arteriovenous fistula (AVF and facial vascular malformation in a 20 weeks old fetus. The dilated intracranial venous pouch appeared as a midline anechoic structure which was misdiagnosed as a VGM in her previous ultrasound exam. Another AVM was diagnosed in the same side of fetal face which fed by a branch of external carotid artery and communicated with the mentioned pial AVF. High output cardiac failure and hydrops were evident. To our knowledge this is the first report of prenatally detected combination of facial and cerebral vascular malformations at such as early pregnancy week.

MRI phenotypes of localized intravascular coagulopathy in venous malformations