Cerebrotendinous Xanthomatosis Presenting with Severe Externalized Disorder: Improvement After One Year of Treatment with Chenodeoxycholic Acid

被引：24

作者：

Bonnot, Olivier ^{[1
]}

Fraidakis, Matthew J. ^{[2
]}

Lucanto, Raffaella ^{[1
]}

Chauvin, Dominique ^{[1
]}

Kelley, Nathalie ^{[1
]}

Plaza, Monique ^{[3
]}

Dubourg, Odile

Lyon-Caen, Olivier ^{[2
,4
]}

Sedel, Frederic ^{[5
]}

Cohen, David ^{[1
,4
]}

机构：

[1] Grp Hosp Pitie Salpetriere, Dept Child & Adolescent Psychiat, F-75634 Paris, France

[2] Grp Hosp Pitie Salpetriere, Dept Neurol, F-75634 Paris, France

[3] CNRS, F-75700 Paris, France

[4] Univ Paris 06, F-75651 Paris 13, France

[5] Hop La Pitie Salpetriere, Dept Neurol, Paris, France

来源：

CNS SPECTRUMS | 2010年 / 15卷 / 04期

关键词：

ADULTS; MANIFESTATIONS; MUTATIONS; CHILDREN; DISEASE;

D O I：

10.1017/S1092852900000067

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：231 / 236

页数：6