All issues > Volume 34(11); 1991

Original Article

J Korean Pediatr Soc. 1991;34(11):1598-1604. Published online November 30, 1991.

a case of type II lissencephaly; Walker-Earburg syndrome.

Ae Yong Kim¹, Jung Ho Lee¹, Yong Sub Kim¹, Kyeng Sook Cho¹, Jong Dai Jo¹

¹Department of Pediatrics, Maryknoll Hospital, Pusan, Korea

Received: May 7, 1991;  Accepted: July 10, 1991.

Abstract

Lissencephaly is a rare abnormality of brain development characterized by incomplete neuronal migration and a smooth cerebral surface. Three types of lissencephaly are recognized. Type I is characterized by microcephaly and dysmorphic facies. Type II usually lacks characteristic facies but exhibits macrocephaly from hydrocephalus, eye anomaly, and/or congenital muscular dystrophies. Type III is characterized by microcephaly without any characteristic dysmorphic facial features. We have experienced a case of Type II lissencephaly (Walker-Warburg syndrome). In this case lissencephaly, hydrocephalus, hypoplasia of corpus callosum, hypoplasia of septum pellucidum, retinal dysplasia, optic atrophy, nystagmus was noticed. So we presented this case with a review of refer- ential literatures.

Keywords :lissencephaly;Walker-Warburg syndrome