Cerebrotendinous Xanthomatosis with Psychiatric Disorders Report of Three Siblings and Literature Review.docVIP

Case Report 334 Cerebrotendinous Xanthomatosis with Psychiatric Disorders: Report of Three Siblings and Literature Review Yu Lee, MD; Pao-Yen Lin, MD; Nien-Mu Chiu, MD; Wen-Neng Chang , MD; 1 Jung-Kwang Wen, MD Cerebrotendinous xanthomatosis (CTX), a rare familial lipid metabolic disease inherited via an autosomal recessive trait, is caused by mutations of the sterol 27-hydroxylase gene. Psychiatric disorders may occur in patients with CTX. In Taiwan, Chang et al presented patients with CTX. However, there has not been a case presented about CTX with psychi- atric disorders in Taiwan. We present three siblings in one family with CTX combined with moderate mental retardation. One of the siblings had long-term depressed mood, irritability, poor appetite, insomnia, fatigability, and pessimistic thinking and was diagnosed as dys- thymic disorder. After 2.5 years of antidepressant treatment at our outpatient clinic, the depressive symptoms of the dysthymic sibling improved greatly. However, the results of the IQ tests of the three siblings did not change after effective treatments for physical manifesta- tions of CTX. In addition, the authors reviewed the literature of CTX combined with psy- chiatric disorders. (Chang Gung Med J 2002;25:334-40) Key words: cerebrotendinous xanthomatosis, psychiatric disorders, mental retardation, depression. C erebrotendinous xanthomatosis (CTX) was first (1) described by van Bogaert et al. It is a rare lipid metabolic disorder inherited in an autosomal reces- sive trait and is caused by mutations of the sterol 27- patients with CTX were reported by Chang et al. (10,11) However, there have been no reports of patients diagnosed as CTX with psychiatric disorders in Taiwan. In this paper, the authors present three sib- lings in one family all of whom were diagnosed with CTX combined with mental retardation. One of the siblings had concomitant dysthymic disord