脑腱黄瘤病。

Cerebrotendinous xanthomatosis.

机构信息

Department of Pediatrics, KLE University's JN Medical College, Belgaum, India.

出版信息

Indian J Pediatr. 2010 Jun;77(6):697-8. doi: 10.1007/s12098-010-0070-9. Epub 2010 May 7.

DOI:10.1007/s12098-010-0070-9

PMID:20454938

Abstract

We describe two adolescent Indian siblings with cerebrotendinous xanthomatosis with cognitive impairment, progressive neurological deterioration, juvenile cataracts and chronic diarrhea. Both patients had bilateral Achilles tendon xanthomata. Rapid progression of disease was an unusual finding in these cases. Magnetic resonance imaging showed characteristic signal alterations in cerebellar hemispheres, brainstem and posterior cerebral white matter.

摘要

我们描述了两例患有脑腱性黄瘤病的印度青少年兄妹，他们存在认知障碍、进行性神经恶化、少年型白内障和慢性腹泻。两名患者均存在双侧跟腱黄色瘤。在这些病例中，疾病的快速进展是一个不常见的发现。磁共振成像显示小脑半球、脑干和大脑后白质存在特征性信号改变。