All issues > Volume 37(12); 1994

Case Report

J Korean Pediatr Soc. 1994;37(12):1784-1788. Published online December 15, 1994.

A Case of Dandy-Walker Syndrome with Chromosomal Abnormality

Hyui Sung HS Chang¹, Seok Kyu SK Lee¹, Gi Chung GC Lee¹, Woo Ki WK Lee¹, Kwang Woo KW Kim¹

¹Department of Pediatrics, Sunrin Hospital, Pohang, Korea

Abstract

The Dandy-Walker syndrome is a developmental disorders of the brain characterized by cystic defromity of the 4th ventricle and agensis of the cerebellar vermis. Other systemic anomalies and chromosomal abnormalities are associated with this syndrome. We are experienced a case in a 9 months old male infant who presented initially with frequent vomiting, low birth weight, On the physical examination, a prominent occiput, palpable mass below the right upper quadrant, pulmonary valve stenosis, congenital dislocation of the hips, ventral flexion of fingers, clubfoots and the rocker-bottom deformities of feet were present. On the chromosomal study, there were chromosomal polymorphisms in a thickened C-band of chromosome No. 1 by C-banding method. The brain CT revealed a large, thin-walled, low density mass of CSF without enhancement in the posterior fossa, showing upward displacement of cerebellar hemisphere with absent inferior vermis(or associated with dyslastic cerebellar hemisphere). A brief review of the related literatures were incluede in this report.

Keywords :Dandy-Walker syndrome, Chromosomal Polymorphysm, Hydrocephalus