2名兄弟姐妹神经棘红细胞增多症中小脑萎缩的表现。
Demonstration of cerebellar atrophy in neuroacanthocytosis of 2 siblings.
作者信息
Katsube T, Shimono T, Ashikaga R, Hosono M, Kitagaki H, Murakami T
机构信息
Department of Radiology, Kinki University School of Medicine, Osaka-Sayama, Japan.
出版信息
AJNR Am J Neuroradiol. 2009 Feb;30(2):386-8. doi: 10.3174/ajnr.A1282. Epub 2008 Oct 22.
Abstract
Neuroacanthocytosis is a rare hereditary disorder characterized by involuntary choreiform movements and erythrocytic acanthocytosis in the peripheral blood. Clinical manifestations of this disorder resemble those of Huntington disease (HD). Neuroimaging features of neuroacanthocytosis are atrophy and signal intensity change of the striata on MR imaging, as in HD. We report herein the cases of 2 siblings with neuroacanthocytosis showing cerebellar atrophy as well as atrophy and signal intensity changes of striata.
摘要
神经棘红细胞增多症是一种罕见的遗传性疾病，其特征为不自主舞蹈样运动和外周血红细胞棘形改变。该疾病的临床表现与亨廷顿病（HD）相似。神经棘红细胞增多症的神经影像学特征为磁共振成像（MR）上纹状体萎缩及信号强度改变，与HD相同。我们在此报告2例患有神经棘红细胞增多症的同胞兄弟姐妹，他们表现出小脑萎缩以及纹状体萎缩和信号强度改变。
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