Natural history of cerebrotendinous xanthomatosis: a paediatric disease diagnosed in adulthood

نویسندگان

  • Bertrand Degos
  • Yann Nadjar
  • Maria del Mar Amador
  • Foudil Lamari
  • Frédéric Sedel
  • Emmanuel Roze
  • Philippe Couvert
  • Fanny Mochel
چکیده

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.

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منابع مشابه

Clinical and Genetic Characteristics of Splicing Variant in CYP27A1 in an Iranian Family with Cerebrotendinous xanthomatosis

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عنوان ژورنال:

دوره 11  شماره 

صفحات  -

تاریخ انتشار 2016