title: Cerebrotendinous xanthomatosis presenting with severe externalized disorder: improvement after one year of treatment with chenodeoxycholic Acid.
abstract: Cerebrotendinous 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.
authors.affiliation: Groupe Hospitalier Pitie Salpetriere, Paris, France.
authors.forename: Olivier
authors.initials: O
authors.lastname: Bonnot
authors.forename: Matthew J
authors.initials: MJ
authors.lastname: Fraidakis
authors.forename: Raffaella
authors.initials: R
authors.lastname: Lucanto
authors.forename: Dominique
authors.initials: D
authors.lastname: Chauvin
authors.forename: Nathalie
authors.initials: N
authors.lastname: Kelley
authors.forename: Monique
authors.initials: M
authors.lastname: Plaza
authors.forename: Odile
authors.initials: O
authors.lastname: Dubourg
authors.forename: Olivier
authors.initials: O
authors.lastname: Lyon-Caen
authors.forename: Frédéric
authors.initials: F
authors.lastname: Sedel
authors.forename: David
authors.initials: D
authors.lastname: Cohen
mesh_terms: D000293:Adolescent; D001289:Attention Deficit Disorder with Hyperactivity / Q000188:drug therapy / Q000209:etiology; D019958:Attention Deficit and Disruptive Behavior Disorders / Q000188:drug therapy / Q000209:etiology; D002635:Chenodeoxycholic Acid / Q000627:therapeutic use*; D002648:Child; D003072:Cognition Disorders / Q000188:drug therapy / Q000209:etiology; D005260:Female; D005765:Gastrointestinal Agents / Q000627:therapeutic use*; D006801:Humans; D008297:Male; D035781:Siblings; D019294:Xanthomatosis, Cerebrotendinous / Q000188:drug therapy* / Q000503:physiopathology*
chemical_list: D005765:Gastrointestinal Agents; D002635:Chenodeoxycholic Acid