- Concept UI
- M0003895
- Scope Note
- 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)
- Terms
-
Pelizaeus-Merzbacher Disease
Preferred Term
Term UI
T007436
Date05/22/1978
LexicalTag
EPO
ThesaurusID
-
Pelizaeus-Merzbacher Brain Sclerosis
Term UI
T000892486
Date12/22/2015
LexicalTag
EPO
ThesaurusID
-
Pelizaeus-Merzbacher Sclerosis, Brain
Term UI
T000892487
Date12/22/2015
LexicalTag
EPO
ThesaurusID
-
Leukodystrophy, Hypomyelinating, 1
Term UI
T812088
Date11/15/2011
LexicalTag
NON
ThesaurusID
OMIM (2013)
