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目的 探讨 GM2 神经节苷脂沉积症的临床特点和病理改变。方法 报道 2例晚发型 GM2 神经节苷脂沉积症的临床表现 ,并取 2例患者右额叶脑组织进行病理观察。结果 晚发型 GM2 神经节苷脂沉积症的临床表现无特异性 ,光镜下神经元呈气球样肿胀 ,胞浆内有脂质沉积 ,电镜观察见沉积物为膜性胞浆体和斑马体。结论 对临床上疑为 GM2 神经节苷脂沉积症的患者 ,脑活检光镜加电镜观察有助于明确诊断
Objective To investigate the clinical features and pathological changes of GM2 gangliosidosis. Methods The clinical manifestations of two late GM2 gangliosidosis patients were reported. The pathological changes of right frontal lobe were observed in 2 patients. Results The late onset GM2 gangliosidosis was nonspecific in clinical manifestations. Balloon-like swelling of the neurons was observed under light microscope. Lipid deposition was observed in the cytoplasm. Electron microscopy showed that the deposits were membranous cytoplasm and zebra. Conclusions For patients suspected to be GM2 gangliosidosis, the observation of electron microscopy and brain biopsies may help to confirm the diagnosis