GM1 Gangliosidosis, Late Infantile Onset Dystonia, and T2 Hypointensity in the Globus Pallidus and Substantia Nigra
GM1 Gangliosidosis, Late Infantile Onset Dystonia, and T2 Hypointensity in the Globus Pallidus and Substantia Nigra
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DOI：
10.1016/j.pediatrneurol.2013.02.003
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发表时间：
2013-09-01
影响因子：
3.8
通讯作者：
Scortenschi, Ecaterina
中科院分区：
文献类型：
--
作者：
Vieira, Jose Pedro;Conceicao, Carla;Scortenschi, Ecaterina
BACKGROUND: GM1 gangliosidosis is a rare disease due to mutations in the GLB1 gene and autosomal recessive deficiency of beta-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 T-2 hypointensity in the basal ganglia. Partially similar clinical and radiologic findings were described previously in two reports. CONCLUSIONS: T-2 hypointensity in the globus pallidus should, in the appropriate clinical setting, lead to consideration of the diagnosis of GM1 gangliosidosis. (C) 2013 Elsevier Inc. All rights reserved.
