GM_2神经节苷脂沉积症(附2例报告)

GM_2 gangliosidosis

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 。

Objective To probe into the clinical features and pathological change of GM 2 gangliosidosis. Methods The clinical manifestations of 2 patients with late onset GM 2 gangliosidosis were reported, a biopsy of the right frontal lobe was performed for each case.Results The clinical manifestations of the late onset GM 2 gangliosidosis were nonspecific, the ballooned neurons with cytoplasmic deposits were found under the light microscopy.The deposits were membranous cytoplasmic bodies(MCB) together with zebra bodies.Conclusion The result suggested that light microscopy with electron microscopy in taking brain biopsy was very important for the diagnosis of GM 2 gangliosidosis.