表现为周围神经病变的Krabbe病患者的临床及基因突变分析  

Clinical and genetic analysis of a patient with Krabbe disease presented as peripheral neuropathy

作　　者：汪伟[1] 秦亚丽[2,3] 汪仁斌 张伟赫[1] 张麟伟[1] 崔蕾[2] 金明[2] 矫毓娟[1] 焦劲松[1] Wang Wei;Qin Yali;Wang Renbin;Zhang Weihe;Zhang Linwei;Cui Lei;Jin Ming;Jiao Yujuan;Jiao Jingsong(Department of Neurology,China-Japan Friendship Hospital,Beijing 100029,China;Department of Ophthalmology,China-Japan Friendship Hospital, Beijing 100029, China;Beijing University of Traditional Chinese Medicine, Beijing 100029,China)

机构地区：[1]中日友好医院神经内科,北京100029 [2]中日友好医院眼科,北京100029 [3]北京中医药大学,100029

出　　处：《中华医学遗传学杂志》2019年第8期821-825,共5页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金(81701131).

摘　　要：目的探讨1例以周围神经病变及视力下降为主要表现的晚发型球形细胞脑白质营养不良(Krabbe病)患者的临床及基因突变特点。方法对患者进行影像学、神经电生理学及基因致病突变分析,并结合文献进行总结。结果患者的临床表现符合遗传性周围神经病的特点,同时伴有脑白质病变。神经电生理学检查提示不对称性脱髓鞘性多神经病。基因检测发现GALC基因存在复合杂合突变[c.461C>A(p.Pro154His);c.1244G>A(p.Gly415Glu)]。患者外周血半乳糖脑苷脂酶的活性显著下降。结论Krabbe病患者可表现为周围神经病变伴视力下降,其诊断需综合患者临床、影像及电生理学分析,但确诊需结合基因诊断及酶学检查的结果。Objective To explore the clinical, electrophysiological and imaging features of a patient with Krabbe disease caused by GALC mutation. Methods A comprehensive analysis including clinical investigation and genetic testing was carried out. Results The patient presented with peripheral neuropathy with electrophysiological anomaly suggestive of asymmetric demyelinating neuropathy. Brain imaging revealed leukoencephalopathy. Genetic analysis has identified compound heterozygous mutations in exons 5 and 11 of the GALC gene, namely c. 461C>A and c. 1244G>A. Conclusion Krabbe disease is a group of disorders featuring substantial phenotypic heterogeneity. Genetic and enzyme testing has become indispensable for accurate diagnosis for this disease.

关 键 词：Krabbe病 遗传性周围神经病 GALC基因 半乳糖脑苷脂酶 

分 类 号：R74[医药卫生—神经病学与精神病学] R5[医药卫生—临床医学]