摘要
探讨ＧＭ１和ＧＭ２神经节苷脂沉积症的诊断。方法对２例婴儿型ＣＭ１神经节苷脂沉积症和６例ＧＭ２神经节苷脂沉积症进行了研究，每例患者均取右额叶脑组织做病理观察。结果婴儿型ＧＭ１神经节苷脂沉积症临床表现为出生后喂养困难、发育迟缓、面容丑陋、肝脾肿大，Ｘ线照片显示多发性骨发育不良。ＧＭ２神经节苷脂沉积症婴儿型以智力差、易惊跳、眼底视网膜黄斑部樱桃红点为特点；少年型则表现为智力进行性下降、共济失调、视力减退、锥体束征。光镜下神经元呈气球样肿胀，电镜观察见神经元胞浆内充满膜性胞浆体，夹杂少量斑马体，两种沉积症之间的沉积物形态完全一致。结论对临床上疑为神经节苷脂沉积症的病人，脑活检电镜观察有助于明确诊断。
Objective The clinical and neuropathologic findings of 2 patients with GM 1 gangliosidosis and 6 patients with GM 2 gangliosidosis were reported. Method A biopsy of the right frontal lobe was performed for each case. The main clinical manifestations consisted of mental retardation, facial grimacing and visceromegaly for GM 1 gangliosidosis, and intellect impairment, hyperacusis, retinal macular cherry red spots for infantile GM 2 gangliosidosis and progressive visual deterioration, mental disorder, ataxia, hyperactive tendon reflexes, clonus, extensor planter responses for juvenile GM 2 gangliosidosis. Results With the use of microscopy, grossly ballooned neurons were found and ultrastructurally, the cytoplasms of the neurons were filled with membranous cytoplasmic bodies together with zebra bodies. Conclusion No difference in the storage form could be identified between GM 1 and GM 2 gangliosidoses. The results suggested that electron microscopy was of use to help establish a diagnosis of gangliosidosis.
出处
《中华神经科杂志》
CAS
CSCD
1997年第1期23-26,共4页
Chinese Journal of Neurology
