|Pelizaeus-Merzbacher disease||medical dictionary|
A sudanophilic leukodystrophy with a tigroid appearance of the myelin resulting from patchy demyelination. Type 1-classic, nystagmus and tremor appearing in the first few months of life, followed by slow motor development sometimes with choreoathetosis, spasticity, optic atrophy and seizures, with death in early adulthood, X-linked recessive inheritance; type 2-contralateral form with death in months to years after birth, X-linked recessive inheritance; type 3-transitional, with death in the first decade; type 4-adult form associated with involuntary movements, ataxia and hyperreflexia, but without nystagmus; type 5-variant forms. Cockayne is sometimes included as a sixth form.
Synonyms: Merzbacher-Pelizaeus disease.
(05 Mar 2000)
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