Ritscher - Schinzel Syndrome - 3C (Cranio-Cerebello-Cardiac) Syndrome: Case Report

Abstract

Ritscher-Schinzel or “cranio-cerebello-cardiac“ (3C) syndrome is a rare autosomal recessive syndrome characterized by craniofacial, cerebellar and cardiac anomalies. Central nervous system anomalies include Dandy-Walker malformation, cerebellar vermis hypoplasia and enlargement of the cisterna magna. Ritscher-Schinzel syndrome is listed as a very rare disease by the Office of Rare Diseases (ORD) of the National Institutes of Health and so far only about 30 cases are reported all over the world, mostly from North America and Europe. We present a case of young male patient born in 1972, who was, soon after his birth, operated due to cleft palate, and afterwards because of ventricular septal defect. From 1989 he has been treated due to epilepsy with signs of psychomotor retardation. In 2008 brain CT revealed Dandy-Walker malformation. In March 2009 he was hospitalized in the Department of Neurology of the University Hospital Centre Zagreb, where brain MRI confirmed described malformation with enlargement of the posterior fossa by cystic formation and aplasia of the caudal part of cerebellar vermis, as well as extensive bilateral subependymal areas of gray matter heterotopia. He clinically presented with craniofacial dysmorphism, syndactylia of 1st and 2nd finger on his right foot, flexion contractures of the distal phalanges of 2nd and 3rd finger on the both hands, and thoracic scoliosis. X-ray examination also revealed hypoplasia of the 1st right rib, congenital block of C6-C7 vertebral bodies and sinistroconvex scoliosis of thoracal segment. Based on clinical examination, neuroradiologic and radiologic diagnostic procedures we believe that our patient fills all necessary criteria for the diagnosis of Ritscher-Schinzel syndrome. So far he is the oldest patient described in the literature, and first described patient in Croatia.