一名14个月大非洲男孩的婴儿型亚历山大病的磁共振成像诊断
MRI diagnosis of infantile Alexander disease in a 14 month old African boy.
作者信息
Dlamini Nondumiso, du Plessis Vicci
机构信息
Department of Radiology, Greys' Hospital, Pietermaritzburg Metropolitan Complex, South Africa.
出版信息
J Radiol Case Rep. 2016 Oct 31;10(10):7-14. doi: 10.3941/jrcr.v10i10.2943. eCollection 2016 Oct.
Abstract
Alexander disease, also known as fibrinoid leukodystrophy, is a rare leukoencephalopathy which occurs due to a mutation in the glial fibrillary acid protein (GFAP) gene. Magnetic resonance imaging (MRI) has proven to be highly sensitive in making the diagnosis. Typical MRI findings, in combination with positive genetic blood analysis, confirm the diagnosis.
摘要
亚历山大病，也称为纤维样白质营养不良，是一种罕见的白质脑病，由胶质纤维酸性蛋白（GFAP）基因突变引起。磁共振成像（MRI）已被证明在做出诊断方面具有高度敏感性。典型的MRI表现，结合阳性的基因血液分析，可确诊该病。
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