Ohta K, Tsuji S, Mizuno Y, Atsumi T, Yahagi T, Miyatake T
Neurology. 1985 Oct;35(10):1490-4. doi: 10.1212/wnl.35.10.1490.
GM1 gangliosidosis is usually a pediatric disease caused by hereditary acid beta-galactosidase deficiency. There have been a few cases in adults. We saw a 51-year-old Japanese man with type 3 GM1 gangliosidosis who was manifesting dementia, dysarthria, gait disturbance, and limb rigidity. Radiologic studies showed platyspondylia, acetabular hypoplasia, and flattened femoral heads. Biochemical analysis revealed generalized acid beta-galactosidase deficiency.
GM1神经节苷脂贮积症通常是一种由遗传性酸性β-半乳糖苷酶缺乏引起的儿科疾病。成人病例较少。我们接诊了一名51岁的日本男性，患有3型GM1神经节苷脂贮积症，表现为痴呆、构音障碍、步态障碍和肢体僵硬。影像学研究显示椎体扁平、髋臼发育不全和股骨头扁平。生化分析显示全身性酸性β-半乳糖苷酶缺乏。
