Dandy-Walker malformation: prenatal diagnosis and prognosis

Klein, Olivier; Pierre-Kahn, Alain; Boddaert, Nathalie; Parisot, D.; Brunelle, Françis

doi:10.1007/s00381-003-0782-5

Cited by 186 publications

(145 citation statements)

References 22 publications

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“…The DWS is characterized by a hypoplasia or agenesis of the cerebellar vermis, involving the cortex and deep cerebellar nuclei, enlargement of the fourth ventricle in continuity with a posterior fossa cyst, and usually, though not exclusively, hydrocephalus 1,7 . There is some doubt if the malformation is simply due to congenital obstruction of the foramina of Luschka and Magendie, which results in ballooning of the fourth ventricle and deformity of the cerebellum of varying degree, or represents a structural developmental anomaly of the area of the fourth ventricle 1,6,12 .…”

Section: Discussionmentioning

confidence: 99%

“…Several other structured lesions of the central nervous system, such as cerebrovascular disease, brain stem tumors and Chiari malformation were described as mimicking MG, due to involvement or compression of the brain stem, could easily lead to misdiagnosis and an inappropriate treatment, but the DWS have not been reported to date 1,2,[6][7][8][9][10][11][12] .…”

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confidence: 99%

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Dandy-Walker syndrome in adult mimicking myasthenia gravis

Cardoso

Lange

Lorenzoni

et al. 2007

Arq. Neuro-Psiquiatr.

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-The Dandy-Walker syndrome (DWS) is a rare posterior fossa malformation. The DWS can occur associated with other brain or systemic malformations, but ocular abnormalities in this disease are rare and clinical findings mimicking myasthenia gravis have not been described to date. We report a 23-yearold woman who presented mild limitation of the ocular movements with progressive palpebral ptosis, which changed in intensity during the day. The investigation showed negative anti-acetylcholine receptor antibody, repetitive nerve stimulation and "Tensilon test", but the brain magnetic resonance image reveals DWS with hydrocephalus associated with calosal dysgenesis. The characteristic of disease, clinical manifestations and pathologic features, specially the clinical evaluation of ocular abnormalities in suspicion of DWS, including the MG in differential diagnosis are discussed.KEY WORDS: Dandy-Walker syndrome, hydrocephalus, myasthenia gravis, palpebral ptosis. Síndrome de Dandy-Walker em adulto simulando miastenia gravisRESUMO -A síndrome de Dandy-Walker (DWS) é uma rara malformação da fossa posterior que pode ocorrer associada com outras malformações cerebrais ou sistêmicas. As alterações oculares são raras e as manifestações clínicas, simulando miastenia gravis (MG), não foram descritas até o momento. Descrevemos uma mulher de 23 anos apresentando discreta limitação da movimentação ocular com progressiva ptose palpebral que mudava de intensidade durante o dia. A investigação mostrou negativos o anticorpo anti-receptor de acetilcolina, a estimulação nervosa repetitiva e o "teste do Tensilon", porém a ressonância magnéti-ca de crânio revelou DWS com hidrocefalia associada à disgenesia de corpo caloso. As características da doença, manifestações clínicas e patológicas, especialmente a avaliação clínica de anormalidade ocular na suspeita de DWS serão discutidas, incluindo a MG no diagnóstico diferencial.

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Dandy-Walker syndrome in adult mimicking myasthenia gravis

Cardoso

Lange

Lorenzoni

et al. 2007

Arq. Neuro-Psiquiatr.

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“…DWM is a very rare congenital malformation, with the incidence of 1 to 25.000-35.000 [27]. Typical features of DWM include cystic dilatation of the Blake's pouch, vermian hypoplasia, and upward movement of the tentorium (Fig.…”

Section: Posterior Fossa Abnormalitiesmentioning

confidence: 99%

“…Posterior fossa structures comprise of higher number of neurons as compared to the rest of the cerebellum. This fact makes the prediction of the pregnancy outcome and postnatal development quite difficult [27]. The findings of the studies on pregnancy outcomes in DWM and vermian hypoplasia/agenesis are inconsistent due to heterogeneous and confusing terminology.…”

Section: Posterior Fossa Abnormalitiesmentioning

confidence: 99%

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Three-dimensional neurosonography — a novel field in fetal medicine

Lipa¹,

Pooh²,

Wielgoś³

2017

Ginekol Pol

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Neurosonography is a promising technique for prenatal diagnosis, combining features of ultrasound imaging with fetal neurology. The brain is a three-dimensional structure, therefore observing brain structure in the three basic planes (sagittal, coronal and axial) is mandatory. The anterior fontanelle and sagittal suture may serve as acoustic ultrasound windows in the transvaginal brain scan, allowing to obtain high-resolution neuroimages of the intracranial structures. Furthermore, three-dimensional (3D) ultrasound combined with the transvaginal brain approach provides detailed and sophisticated neuroimages. Three orthogonal planes of the brain, tomographic ultrasound imaging (TUI) and other off-line approaches (e.g. volume contrast imaging (VCI) or HDlive silhouette imaging) may be obtained from a single 3D dataset. 3D Doppler ultrasound enables visualization of the intracerebral vascularity, allowing to obtain more precise information on cerebral perfusion. Various abnormal brain conditions, including ventriculomegaly, agenesis of the corpus callosum, posterior fossa abnormalities and others, can be well-demonstrated. Due to high rates of the associated anomalies and uncertain prognosis, any suspicion of CNS abnormalities shall imply detailed ultrasonographic evaluation of the fetal anatomy to exclude the associated anomalies. Despite a growing number of neuroimaging modalities, prenatal counselling remains a challenge as prediction of brain functionality and the neurological prognosis often remain uncertain. New investigations on the relations between various migration disorders and gene mutations, as well as recent clinical research on the relations between neuroimaging detection of local migration disorders using sophisticated imaging technologies and the postnatal neurological prognosis will contribute to the development of maternal-fetal medicine as well as pediatric neurology.

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Obstetric MRI

Fender

Koumellis

1996

eMagRes

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Dandy-Walker malformation: prenatal diagnosis and prognosis

Cited by 186 publications

References 22 publications

Dandy-Walker syndrome in adult mimicking myasthenia gravis

Dandy-Walker syndrome in adult mimicking myasthenia gravis

Three-dimensional neurosonography — a novel field in fetal medicine

Obstetric MRI

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