The Journal of the Association of Physicians of India 2009-Oct
Cerebrotendinous xanthomatosis: a treatable neurodegenerative disease.
Vetëm përdoruesit e regjistruar mund të përkthejnë artikuj
Identifikohuni Regjistrohu
Lidhja ruhet në kujtesën e fragmenteve
Fjalë kyçe
Abstrakt
Cerebrotendinous xanthomatosis is one of the rare forms of treatable hereditary neurodegenerative disorders. It is due to a defect in hydroxylation of cholesterol side chain that impairs oxidative cleavage of cholesterol leading to excess accumulation of cholesterol. Here we present such a case which presented to us with recurrent generalized tonic clonic seizures. He is under treatment for the same and has not neurologically deteriorated since then.