GM1 神经节苷脂沉积病，晚发性婴儿型扭转痉挛，以及苍白球和黑质的 T2 低信号强度。
GM1 gangliosidosis, late infantile onset dystonia, and T2 Hypointensity in the globus pallidus and substantia Nigra.
机构信息
Neurology Department, Hospital Dona Estefânia, Centro Hospitalar de, Lisboa Central, Portugal.
出版信息
Pediatr Neurol. 2013 Sep;49(3):195-7. doi: 10.1016/j.pediatrneurol.2013.02.003. Epub 2013 Jul 4.
BACKGROUND
GM1 gangliosidosis is a rare disease due to mutations in the GLB1 gene and autosomal recessive deficiency of β-galactosidase. There is considerable overlap between classical phenotypes and clinical and imaging findings, which are often difficult to interpret.
PATIENT
The patient in this study had dysmorphism, dysostosis, progressive dystonia, and T2 hypointensity in the basal ganglia. Partially similar clinical and radiologic findings were described previously in two reports.
CONCLUSIONS
T2 hypointensity in the globus pallidus should, in the appropriate clinical setting, lead to consideration of the diagnosis of GM1 gangliosidosis.
背景
GM1 神经节苷脂贮积症是一种由于 GLB1 基因突变和β-半乳糖苷酶的常染色体隐性缺乏引起的罕见疾病。经典表型和临床及影像学表现有很大的重叠，往往难以解释。
患者
本研究中的患者有畸形、骨发育不全、进行性肌张力障碍和基底节区 T2 信号强度降低。以前有两份报告描述了部分相似的临床和影像学发现。
结论
在适当的临床环境下，苍白球区 T2 信号强度降低应提示 GM1 神经节苷脂贮积症的诊断。
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