Familial communicating hydrocephalus, posterior cerebellar agenesis, mega cisterna magna, and port-wine nevi

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Abstract
A family was presented in which the maternal grandmother, the mother and all 3 male children had port-wine nevi and mega cisterna magna. Of the 3 male children, two had congenital communicating hydrocephalus associated with agenesis of the posterior cerebellar vermis. This case of familial communicating hydrocephalus, posterior cerebellar vermis agenesis, port-wine nevus and mega cisterna magna represents a new neurocutaneous syndrome, possibly transmitted as an autosomal dominant.