Two Cases of Pelizaeus-Merzbacher Disease.
- Author:
Ho Seok KANG
1
;
Se Wook OH
;
Yong Won PARK
;
Chong Guk LEE
;
Sang Woo KIM
;
Ghi Jai LEE
Author Information
1. Department of Pediatrics, Seoul Paik Hospital, Inje University, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Pelizaeus-Merzbacher disease;
Dysmyelination;
Nystagmus
- MeSH:
Ataxia;
Athetosis;
Brain;
Central Nervous System;
Cerebellum;
Cerebrum;
Magnetic Resonance Imaging;
Muscle Hypotonia;
Nystagmus, Pathologic;
Oligodendroglia;
Pelizaeus-Merzbacher Disease*;
Respiratory Sounds
- From:Journal of the Korean Pediatric Society
2000;43(4):561-566
- CountryRepublic of Korea
- Language:Korean
-
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.
