A Case of cerebrotendinous Xanthomatosis Associated with Cerebral Infarction

J Korean Neurol Assoc > Volume 6(1); 1988 > Article

Journal of the Korean Neurological Association 1988;6(1): 91-96.

뇌경색증과 동반된 뇌건황색종증 (Cerebrotendinous xanthomatosis) 1예

주인수, 조필자, 김동익

국립의료원 신경과. 연세대학교 방사선과.

A Case of cerebrotendinous Xanthomatosis Associated with Cerebral Infarction

In Soo Joo, M.D., Phil Za Cho, M.D., Dong Ik Kim, M.D.

Department of Neurology, National Medical Center, Seoul, Korea Department of Radiology, College of Medicine, Yonsei University

Abstract

Cerebrotendinous xanthomatosis-is a very rare, automsomal recessive disorder which characterized by xanthomatous deposits in multiorgan system. The main clinical features include pyramidal, cerebellar and brain stem dysfunction, juvenile cataracts, dementia and xanthomas, especially on Achilles tendon and other tissues. We experienced a patient, 43 year old male who showed cataract, mild cerebellar dysfunction and multiple xanthomas as well as recently developed right hemiparesis. The tendinous xanthomatosis was confirmed pathologically and the brain CT scan showed cortical atrophy, demyelination and multifocal cerebromalacia, which correlated with neurologic manifestation of this patient and with neuropathologic findings of cerebrotendinous xanthomatosis. The EEG showed generalized slowing of background activities.