Two Cases of Pelizaeus-Merzbacher Disease
Journal of the Korean Pediatric Society
;
: 561-566, 2000.
Article
in Korean
| WPRIM
| ID: wpr-175888
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Ataxia
/
Athetosis
/
Brain
/
Magnetic Resonance Imaging
/
Central Nervous System
/
Cerebellum
/
Oligodendroglia
/
Respiratory Sounds
/
Nystagmus, Pathologic
/
Pelizaeus-Merzbacher Disease
Language:
Korean
Journal:
Journal of the Korean Pediatric Society
Year:
2000
Type:
Article
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