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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... |
