Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood. Issue 1 (December 2016)

• Record Type: Journal Article
• Authors: Degos, Bertrand; Nadjar, Yann; Amador, Maria del Mar; Lamari, Foudil; Sedel, Frédéric; Roze, Emmanuel; Couvert, Philippe; Mochel, Fanny
• Is Part Of: Orphanet journal of rare diseases. Volume 11:Issue 1(2016)
• Page Start: 1
• Page End: 4
• Publication Date: 2016-12
• Subjects: Cerebrotendinous xanthomatosis -- Diarrhea -- Cataract -- Cerebellar ataxia -- Cognitive dysfunction -- Psychiatric symptoms; Rare diseases -- Periodicals; Genetic disorders -- Periodicals; Orphan drugs -- Periodicals; 616
• DOI: 10.1186/s13023-016-0419-x
• Languages: English
• ISSNs: 1750-1172

Abstract

Abstract Cerebrotendinous xanthomatosis (CTX) is among the few inherited neurometabolic disorders amenable to specific treatment. It is easily diagnosed using plasma cholestanol. We wished to delineate the natural history of the most common neurological and non-neurological symptoms in thirteen patients with CTX. Diarrhea almost always developed within the first year of life. Cataract and school difficulties usually occurred between 5 and 15 years of age preceding by years the onset of motor or psychiatric symptoms. The median age at diagnosis was 24.5 years old. It appears critical to raise awareness about CTX among paediatricians in order to initiate treatment before irreversible damage occurs.