A Case Report of 3C Syndrome and Literature Review

摘要

Ritscher-Schinzel syndrome, or 3C (cranio-cerebello-cardiac) syndrome is a developmental disorder characterized by cranio-facial, cerebellar and cardiac anomalies. It is a rare disease with an incidence of 1/1,000,000 inhabitants, and was first described by Ritscher-Schinzel in 1987. 3C syndrome is an autosomal recessive disease caused by a mutation on the long arm of chromosome 8 to 8q24.13, the KIAA0196 locus, the strumpellin protein gene. The cardiac and cerebral anomalies are most often leading cause of death at an early age and people with 3C syndrome rarely exceed 40 years. In this paper, we report a case of Ritscher-Schinzel in 3-month-old boy who was admitted to our neurosurgical department in September 2020. Clinical examination revealed a macrocrania with head circumference at 47 cm. There was a prominence of forehead and occiput, the root of the nose which was flat, hypertelorism and micrognatism. The CT scan revealed Dandy WALKER malformation with cystic dilation of the 4th ventricle, an aplasia of the cerebellar vermis associated with a tretraventricular hydrocephalus.