A Case of Walker-Warburg Syndrome Presented with Seizures.

Kim,  Seong Koo; Lee,  Jin Young; Kim,  Young Hoon; Lee,  In Goo

Case Report

Journal of the Korean Child Neurology Society 2010;18(2):332-337.
Published online November 30, 2010.

A Case of Walker-Warburg Syndrome Presented with Seizures.

Seong Koo Kim, Jin Young Lee, Young Hoon Kim, In Goo Lee

Department of Pediatrics, College of Medicine, The Catholic University of Korea, Seoul, Korea. iglee@catholic.ac.kr

Abstract

Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by congenital muscular dystrophy, brain (lissencephaly, hydrocephalus, cerebellar malformations) and retinal abnormalities, and is associated with mental retardation and seizures. In 1942, Walker was the first to report a case of WWS. As Fukuyama congenital muscular dystrophy or muscle-eye-brain disorder, it has been demonstrated that the glycosylation defects of alpha-dystroglycan which take a great role in muscle and neuron regeneration are at the root of these disorders. We report a five months old male patient who was presented with seizures as the chief complaint and was diagnosed with WWS, based on clinical criteria, MRI, muscular biopsy, ocular examination, and laboratory findings.

Key Words: Muscular dystrophies, Lissencephaly