脑腱性黄瘤病：临床与磁共振成像研究（病例报告）

Cerebrotendinous xanthomatosis: clinical and MRI study (a case report).

作者信息

Fiorelli M, Di Piero V, Bastianello S, Bozzao L, Federico A

机构信息

Dipartimento di Scienze Neurologiche, Università degli Studi di Roma La Sapienza, Italy.

出版信息

J Neurol Neurosurg Psychiatry. 1990 Jan;53(1):76-8. doi: 10.1136/jnnp.53.1.76.

DOI:10.1136/jnnp.53.1.76

PMID:2303834

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1014102/

Abstract

We report a patient with cerebrotendinous xanthomatosis (CTX) presenting with dementia, spastic tetraparesis and an unreported akinetic-rigid syndrome. Computed tomography (CT) showed only cerebellar abnormalities while magnetic resonance imaging (MRI) detected additional pallidal and mesencephalic focal alterations. MRI findings, but not CT, correlated with the clinical picture.

摘要

我们报告了一例患有脑腱性黄瘤病（CTX）的患者，其表现为痴呆、痉挛性四肢瘫以及一种未被报道的运动不能-强直综合征。计算机断层扫描（CT）仅显示小脑异常，而磁共振成像（MRI）检测到额外的苍白球和中脑局灶性改变。MRI表现而非CT表现与临床症状相关。