青少年型神经元蜡样质脂褐素沉积病6例的临床特点和基因分析

摘要

目的 报告6例经病理诊断为青少年型神经元蜡样质脂褐素沉积病(juvenlie neuronal ceroid lipofuscinosis,JNCL)患者的临床特点以及部分患者的基因研究结果.方法 总结分析6例JNCL患者的临床特点,并对其中3例患者进行CLN 3基因检查.结果 6例患者,发病年龄为2～7岁,首发症状4例主要为癫痫,2例为视力下降.主要临床表现包括癫痫、视力下降、智能减退.基因检查3例患者均没有发现国外常见的CLN 3基因的大片断缺失,在1例患者发现位于第一外显子的c3G→T杂合突变.结论 国人JNCL具有自己的特点,在CLN 3基因的突变类型方面和其他地区的病例可能不完全相同,也可能存在新的基因.%Objective To study the clinical and genetic characteristics of juvenlie neuronal ceroid lipofuscinosis in six Chinese patients. Methods Clinical characteristics of six Chinese patients with juvenlie neuronal ceroid lipofuscinosis including age of onset, premonitory symptoms and other symptoms, were analyzed retrospectively. CLN 3 gene analysis was conducted in 3 patients using PCR. Results The age of onset of was 2 ～ 7 years old in the six patients. The initial symptoms included seizure in four cases and impared vision in the rest two cases. The patients mainly presented with seizure, impaired vision and mental retardation. A heterozygous mutation of c3G→T was detected in one of three tested cases whereas CLN 3 gene deletion, a common mutation in the Western country, was not founded in those 3 cases. Conclusions Our data suggest that Chinese patients with juvenile neuronal ceroid lipofuscinosis may present seizure as the initial symptom and may result from different CLN 3 mutations from those seen in the Western country.