Dandy Walker Malformation
DWM is a cerebellar malformation characterized by by the following triad: 1) cystic dilatation of the fourth ventricle and an enlarged posterior fossa with upward displacement of the lateral sinuses, confluens sinuum and tentorium cerebelli. 2) varying degrees of vermian aplasia or hypoplasia, and 3) hydrocephalus.
Although DWM also presents cerebellar hypoplasia, it does not have the ‘molar tooth’ sign of JSRD. Neither does it present itself in a Mendelian-linked fashion. The first genes identified as the cause of DWM included Zinc finger in cerebellum family of transcription factors such as ZIC1 and ZIC4.
In half of the cases, mental dysfunctions and seizures have been reported to be part of the symptoms associated with DWM. Other CNS malformations include neuronal heterotopias, polymicrogyria, schizencephaly, occipital encephaloceles, and lumbosacral meningoceles. The etiology of DWM is still unknown.
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