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Pelizaeus-Merzbacher Disease
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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 , spasmus nutans, roving eye movements, , spasticity, and . 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)
Synonym(s):
Cockayne-Pelizaeus-Merzbacher Disease /
Adult Pelizaeus-Merzbacher Disease /
Atypical Pelizaeus-Merzbacher Disease /
Classic Pelizaeus-Merzbacher Disease /
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Diseases
Congenital, Hereditary, and Neonatal Diseases and Abnormalities