脑活检诊断GM2神经节苷脂沉积症

Eight Cases with GM2 Gangliosidosis Diagnosed by Biopsy of Brain

【目的】探讨GM2神经节苷脂沉积症的临床、病理及诊断。【方法】研究8例GM2神经节苷脂沉积症患者的临床表现及诊断分型,并取右额叶脑组织行病理检查。【结果】婴儿型3例以智力低下、癫痫、锥体束征及眼底樱桃红点为特征;迟发型5例以智力倒退、锥体束征、共济失调且无癫痫及眼底樱桃红点为特征。电镜下见神经细胞内均有膜性胞浆小体及少量斑马体沉积。【结论】临床表现结合脑活检电镜检查有助于诊断GM2神经节苷脂沉积症。

[Objective]To probe into the clinical feature,pathological change and diagnosis of GM2 gangliosidosis. [Methods]A biopsy of the right frontal lobe was performed for each case. The clinical manifestations and diagnosis of 8 patients with GM2 gangliosidosis were studied. [Results]The main clinical manifestations consisted of intellect impairment, epilepsy, pyramidal tract signs, retinal macular cherry-red spots for 3 patients with infantile GM2 gangliosidosis, and mental rerardation, pyramidal tract signs and ataxia for 5 patients with late-onset GM2 gangliosidosis, and no epilepsy and retinal macular cherry-red spots for late-onset cases. Ultrastructurally, the deposits in neurons were memberanous cytoplasmic bodies（MCB） together with a few zebra bodies（ZB） in each case. [Conclusion] The results suggested that clinical manifestations and electron microscopy in taking brain biopsy contribute for establishing a diagnosis of GM2 gangliosidosis.