All issues > Volume 33(6); 1990

Original Article

J Korean Pediatr Soc. 1990;33(6):848-853. Published online June 30, 1990.

A Case of Dandy-Walker Syndrome Associated with Multiple Congenital Anomalies.

Gye Weon Shin¹, Chul Ho Lee¹, Bo Kyung Cho¹, Chung Sik Chun¹, Sung Hun Cho¹

¹Department of Pediatrics, Catholic University Medical College, Seoul, Korea

Received: November 9, 1989;  Accepted: February 23, 1990.

Abstract

The Dandy-Walker Syndrome is a developmental disorders of the brain characterized by cystic deformity of fourth ventricle, agenesis or hypoplasia of the cerebellar vermis, and hydrocephalus. This syndrome is frequently associated with central nervous system malformation and systemic anomalies. We experienced a case in a 2-day-old female who has multiple congenital anomalies. On physical examinations, macrocephaly with prominent occiput, encephalocele in the occipital area, microphth- almia, opacity of both lenses, downward displaced eyeballs, microglossia, micrognathia, simian crease on both hands, polydactyly of the right hand, and PDA were present. On transilluminatin over the posterior skull, increased transluscency of typical triangular shape was demonstrated. Cranial ultrasonography defines the posterior fossa cyst and hydrocephalus. The Brain CT revealed dilatation of the fourth ventricle, large posterior fossa cyst, hypoplasia of cerebellar hemisphere, agenesis of vermis, marked dilatation of third and lateral ventricles, and dysgenesis of Corpus Callosum and Septum Pallucidum.

Keywords :Dandy-Walker syndrome, Multiple congenital anomalies