J Korean Pediatr Soc.
2000 Apr;43(4):561-566.
Two Cases of Pelizaeus-Merzbacher Disease
- Affiliations
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- 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.
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