MR Imaging Findings in 2 Cases of Late Infantile GM1 Gangliosidosis
MR Imaging Findings in 2 Cases of Late Infantile GM1 Gangliosidosis
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DOI：
10.3174/ajnr.a1508
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发表时间：
2009-08-01
影响因子：
3.5
通讯作者：
Rossi, A.
中科院分区：
文献类型：
--
作者：
De Grandis, E.;Di Rocco, M.;Rossi, A.
晚婴型GM1神经节苷脂贮积症是一种罕见的溶酶体疾病，其特征为智力衰退以及进行性痉挛、小脑和锥体外系体征，无面部畸形和器官肿大。仅有少数病例报道了神经影像学检查结果。在此我们报道2例晚婴型GM1神经节苷脂贮积症患者主要表现为苍白球磁共振信号强度异常。
Late infantile GM1 gangliosidosis is a rare lysosomal disorder characterized by mental deterioration and progressive spastic, cerebellar, and extrapyramidal signs, without facial dysmorphisms and organomegaly. Neuroimaging findings have been reported in only a few cases. Here we report on predominant globus pallidus MR signal-intensity abnormalities in 2 patients with the late infantile form of GM1 gangliosidosis.