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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)

Year introduced: 2000

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Tree Number(s): C10., C10.228.140.695.625.775, C10.314.400.775, C16.320.322.906, C16.320.565.189.362.775, C18.452.132.100.362.775, C18.452.648.189.362.775

MeSH Unique ID: D020371

Entry Terms:

  • Pelizaeus Merzbacher Disease
  • Pelizaeus-Merzbacher Sclerosis, Brain
  • Brain Pelizaeus-Merzbacher Sclerosis
  • Pelizaeus Merzbacher Sclerosis, Brain
  • Leukodystrophy, Hypomyelinating, 1
  • Pelizaeus-Merzbacher Brain Sclerosis
  • Brain Sclerosis, Pelizaeus-Merzbacher
  • Pelizaeus Merzbacher Brain Sclerosis
  • Pelizaeus-Merzbacher Disease, Transitional
  • Pelizaeus Merzbacher Disease, Transitional
  • Transitional Pelizaeus-Merzbacher Disease
  • Transitional Pelizaeus Merzbacher Disease
  • Cockayne-Pelizaeus-Merzbacher Disease
  • Cockayne Pelizaeus Merzbacher Disease
  • Pelizaeus-Merzbacher Disease, Atypical
  • Pelizaeus Merzbacher Disease, Atypical
  • Atypical Pelizaeus-Merzbacher Disease
  • Atypical Pelizaeus Merzbacher Disease
  • Adult Pelizaeus-Merzbacher Disease
  • Adult Pelizaeus Merzbacher Disease
  • Pelizaeus-Merzbacher Disease, Adult
  • Pelizaeus Merzbacher Disease, Adult
  • Classic Pelizaeus-Merzbacher Disease
  • Classic Pelizaeus Merzbacher Disease
  • Pelizaeus-Merzbacher Disease, Classic
  • Pelizaeus Merzbacher Disease, Classic

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