Canadian Medical Guide > Diseases > Nervous System Diseases > Demyelinating Diseases > Hereditary Central Nervous System Demyelinating Diseases > Pelizaeus-Merzbacher Disease Terms and Definitions

Pelizaeus-Merzbacher Disease

Medical Definition:	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. 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)
Also Called:	Adult Pelizaeus-Merzbacher Disease,Classic Pelizaeus-Merzbacher Disease,Cockayne-Pelizaeus-Merzbacher Disease,Pelizaeus-Merzbacher Disease, Atypical,Pelizaeus-Merzbacher Disease, Transitional
Previously Indexed:	Diffuse Cerebral Sclerosis of Schilder (1966-1999),Multiple Sclerosis (1966-1999)

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