| Merzbacher | Ludwig, German physician in Argentina, 1875-1942. See: Merzbacher-Pelizaeus disease, Pelizaeus-Merzbacher disease. (05 Mar 2000) |
|---|---|
| Merzbacher-Pelizaeus disease | 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. Synonym: Merzbacher-Pelizaeus disease. (05 Mar 2000) |
| Pelizaeus-Merzbacher disease | 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. Synonym: Merzbacher-Pelizaeus disease. (05 Mar 2000) |
|---|---|
| pelizaeus-merzbacher syndrome | <radiology> Slowly progressive dysmyelinating disease, diffuse, symmetrical demyelination, cerebrum, cerebellum, brainstem, spinal cord, islands of partially demyelinated fibres, CT may be normal, two types: X-linked recessive (presents in infancy), autosomal dominant (preadulthood) (12 Dec 1998) |