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DeCS
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Descriptor English:
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Pelizaeus-Merzbacher Disease
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Descriptor Spanish:
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Enfermedad de Pelizaeus-Merzbacher
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Descriptor Portuguese:
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Doença de Pelizaeus-Merzbacher
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Synonyms English:
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Adult Pelizaeus-Merzbacher Disease
Atypical Pelizaeus-Merzbacher Disease
Classic Pelizaeus-Merzbacher Disease
Leukodystrophy, Hypomyelinating, 1
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
Adult Pelizaeus Merzbacher Disease
Atypical Pelizaeus Merzbacher Disease
Brain Pelizaeus-Merzbacher Sclerosis
Brain Sclerosis, Pelizaeus-Merzbacher
Classic Pelizaeus Merzbacher Disease
Cockayne Pelizaeus Merzbacher Disease
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
Transitional Pelizaeus Merzbacher Disease
Cockayne-Pelizaeus-Merzbacher Disease
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Tree Number:
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C10.228.140.163.100.362.775
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
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Definition English:
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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) |
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See Related English:
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Myelin Proteolipid Protein
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History Note English:
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2000; use CEREBRAL SCLEROSIS, DIFFUSE 1979-1999
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Allowable Qualifiers English:
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Record Number:
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34310
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Unique Identifier:
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D020371
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Occurrence in VHL:
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Similar:
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DeCS CID-10 SciELO LILACS LIS
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