岩藻糖苷贮积症（一种罕见的溶酶体贮积病）的神经放射学表现
Neuroradiologic findings in fucosidosis, a rare lysosomal storage disease.
作者信息
Provenzale J M, Barboriak D P, Sims K
机构信息
Department of Radiology, Duke University Medical Center, Durham, NC 27710, USA.
出版信息
AJNR Am J Neuroradiol. 1995 Apr;16(4 Suppl):809-13.
Abstract
Fucosidosis is a rare lysosomal storage disorder with the clinical features of mental retardation, cardiomegaly, dysostosis multiplex, progressive neurologic deterioration, and early death. The neuroradiologic findings in two patients are reported, and include abnormalities within the globus pallidus (both patients) and periventricular white matter (one patient).
摘要
岩藻糖苷贮积症是一种罕见的溶酶体贮积病，具有智力发育迟缓、心脏肥大、多发性骨发育异常、进行性神经功能恶化和早亡等临床特征。本文报告了两名患者的神经放射学检查结果，包括苍白球（两名患者均有）和脑室周围白质（一名患者）的异常。
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