青少年型Krabbe病的临床、影像学特点及酶学检测(附1家系报告)  

Clinical and imaging features and enzyme analysis of juvenile-onset Krabbe disease (report of one family)

作　　者：孔令恩[1] 庄顺芝 李才明[1] 陈礼锟 张停亭 刘涓涓[1] 肖俊强[2] KONG Ling-en;ZHUANG Shun-zhi;LI Cai-ming(Department of Neurology,Huizhou First People＇s Hospital,Huizhou 516003,China)

机构地区：[1]惠州市第一人民医院神经内科,516003 [2]惠州市第一人民医院放射科,516003

出　　处：《临床神经病学杂志》2018年第5期376-378,共3页Journal of Clinical Neurology

摘　　要：目的探讨青少年型Krabbe病的临床及影像学特点及酶学检测结果。方法对1例青少年型Krabbe病患者及其家系的临床资料进行回顾性分析。结果先证者及其姐姐分别于5及4. 5岁开始出现行走不稳,症状逐渐进展。先证者的头颅MRI提示脑白质病变,双侧锥体束受累。先证者的β-半乳糖脑苷酯酶(GALC)酶活性为4. 4 nmol/(mg·17 h),其姐姐为3. 9 nmol/(mg·17 h)[正常值参考范围18～75 nmol/(mg·17 h)]。家系调查提示常染色体隐性遗传。结论青少年型Krabbe病罕见,国内未见青少年型家系的报道;头颅MRI检查及GALC酶活性测定有助于明确诊断。Objective To investigate the clinical and imaging features and enzyme analysis of juvenile-onset Krabbe disease. Methods The clinical date of a patient with juvenile-onset Krabbe disease and his family were analyzed retrospectively. Results The proband and his sister began walking unsteadily at 5 and 4.5 years old respectively, and the clinical syndrome progressively aggravated. Cranial MRI of the proband showed increased signal intensity in white matter with involvement of the corticospinaitracts. The galactocerebrosidase （GALC） activities of the proband patients were 4.4 nmol/（mg · 17 h） and his sister were 3.9 nmol/（ mg · 17 h） respectively I normal range 18- 75 nmol/（ mg· 17 h）]. Family investigation suggested autosomal recessive heredity form of Krabbe disease. Conclusions The juvenile-onset krabbe disease is rare, this is the first report about family with juvenile- onset Krabbe disease in China's Mainland. The test of galactocerebrosidase activity and brain MRI examination can help to diagnosis of Krabbe disease.

关 键 词：Krabbe病 青少年型 半乳糖脑苷酯酶 GLAC基因 

分 类 号：R742[医药卫生—神经病学与精神病学]