All issues > Volume 43(4); 2000

Case Report

J Korean Pediatr Soc. 2000;43(4):561-566. Published online April 15, 2000.

Two Cases of Pelizaeus-Merzbacher Disease

Ho Seok HS Kang¹, Se Wook SW Oh¹, Yong Won YW Park¹, Chong Guk CG Lee¹, Sang Woo SW Kim¹, Ghi Jai GJ Lee²

¹Department of Pediatrics, Seoul Paik Hospital, Inje University, Seoul, Korea
²Department of Diagnostic Radiology, Seoul Paik Hospital, Inje University, Seoul, Korea

Abstract

Pelizaeus-Merzbacher disease(PMD) is a rare sudanophilic leukodystrophy with a reduced number of mature oligodendrocytes as well as diffuse central nervous system hypomyelination(dysmyelination) due to abnormal synthesis of proteolipid protein. PMD is characterized with pendular nystagmus, stridor, delay in psychomotor development, hypotonia, ataxia, athetosis and extrapyramidal signs. Abnormal high signal intensity is shown in the entire white matter of cerebrum and cerebellum at early stage by T2-weighted magnetic resonance imaging(MRI). We report two cases of PMD diagnosed with characteristic clinical manifestations and brain MRI findings.

Keywords :Pelizaeus-Merzbacher disease, Dysmyelination, Nystagmus