Author:
Bonnot Olivier,Fraidakis Matthew J.,Lucanto Raffaella,Chauvin Dominique,Kelley Nathalie,Plaza Monique,Dubourg Odile,Lyon-Caen Olivier,Sedel Frédéric,Cohen David
Abstract
ABSTRACTCerebrotendinous xanthomatosis (CTX) is a rare inborn disorder of sterol storage with autosomal recessive inheritance and a variable clinical presentation. We describe two siblings with an early psychiatric presentation of CTX-associated attention-deficit/hyperactivity disorder and oppositional defiant disorder, also associated with a mild intellectual disability and major behavioral impairments. In both cases, treatment with chenodeoxycholic acid improved externalized symptoms and a partial recovery of cognitive impairments was observed. This suggests that CTX is potentially reversible, demonstrating the need for early diagnosis and treatment of this disorder before irreversible neurological lesions can occur.
Publisher
Cambridge University Press (CUP)
Subject
Psychiatry and Mental health,Clinical Neurology
Cited by
27 articles.
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