Pelizaeus-Merzbacher Disease


Adult Pelizaeus Merzbacher Disease

Adult Pelizaeus-Merzbacher Disease

Atypical Pelizaeus Merzbacher Disease

Atypical Pelizaeus-Merzbacher Disease

Brain Pelizaeus-Merzbacher Sclerosis

Brain Sclerosis, Pelizaeus-Merzbacher

Classic Pelizaeus Merzbacher Disease

Classic Pelizaeus-Merzbacher Disease

Cockayne Pelizaeus Merzbacher Disease

Cockayne-Pelizaeus-Merzbacher Disease

Leukodystrophy, Hypomyelinating, 1

Pelizaeus Merzbacher Brain Sclerosis

Pelizaeus Merzbacher Disease

Pelizaeus Merzbacher Disease, Adult

Pelizaeus Merzbacher Disease, Atypical

Pelizaeus Merzbacher Disease, Classic

Pelizaeus Merzbacher Disease, Transitional

Pelizaeus Merzbacher Sclerosis, Brain

Pelizaeus-Merzbacher Brain Sclerosis

Pelizaeus-Merzbacher Disease, Adult

Pelizaeus-Merzbacher Disease, Atypical

Pelizaeus-Merzbacher Disease, Classic

Pelizaeus-Merzbacher Disease, Transitional

Pelizaeus-Merzbacher Sclerosis, Brain

Transitional Pelizaeus Merzbacher Disease

Transitional Pelizaeus-Merzbacher Disease

A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190)