Dědičná porucha nervového systému, forma leukodystrofie, počínající v kojeneckém věku s pomalou progresí do dospělosti (exitus po pubertě); v popředí je neschopnost udržet zdviženou hlavičku, sedět, dále je nystagmus, ataxie, tremor, křeče a demence. Dědičnost je recesivní, vázaná na chromozom X. (cit. Velký lékařský slovník online, 2013 http://lekarske.slovniky.cz/ )

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)

DUI

D020371 MeSH Prohlížeč

CUI

M0003895

Předchozí užití

Diffuse Cerebral Sclerosis of Schilder (1966-1999); Multiple Sclerosis (1966-1999)

Historická pozn.

2000; use CEREBRAL SCLEROSIS, DIFFUSE 1979-1999

Veřejná pozn.

2000; see CEREBRAL SCLEROSIS, DIFFUSE 1979-1999