早发型伴脑干和脊髓受累及乳酸升高的脑白质病1例  

Case report of early-onset leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation

作　　者：赵盼 丁金金 田培超[1] 王越[1] 樊彩芳 麦子荆 Zhao Pan;Ding Jinjin;Tian Peichao;Wang Yue;Fan Caifang;Mai Zijing(Department of Pediatrics,First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)

机构地区：[1]郑州大学第一附属医院儿科,郑州450052

出　　处：《中华实用儿科临床杂志》2022年第7期546-549,共4页Chinese Journal of Applied Clinical Pediatrics

摘　　要：回顾性分析2020年6月于郑州大学第一附属医院确诊的1例婴儿期起病的伴脑干和脊髓受累及乳酸升高的脑白质病(LBSL)患儿的临床资料。患儿,女,1岁2个月,因"发育落后10个月,间断抽搐1个月"就诊;体格检查:四肢肌力Ⅲ级,肌张力稍高,双侧膝腱反射活跃,双侧跟腱反射正常,双侧巴氏征阳性;头颅磁共振成像(MRI)示双侧大脑半球萎缩并弥漫性异常信号;全外显子基因检测结果显示患儿DARS2基因发现2处杂合变异。中国人群尚未见早发型LBSL基因变异患儿的报道,国外文献共检索到6篇相关病例报道,患儿均有精神运动发育障碍及其他脑病表现,均发现头部影像学受累及DARS2基因变异。因此,对发育落后、癫痫及头颅MRI示双侧大脑半球弥漫性异常信号的患儿,建议行基因检测明确诊断,指导产前诊断及遗传咨询。Clinical data of a child with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation(LBSL)diagnosed in the First Affiliated Hospital of Zhengzhou University in June 2020 were retrospectively analyzed.A female patient with 1 year and 2 months old presented with 10 months of developmental delay and 1 month of recurrent seizures.Physical examinations showed gradeⅢmuscle strength of limbs,slightly higher muscle tone,active reflex of bilateral knee tendons,normal reflex of bilateral achilles tendons,and positive Babinski sign.Brain magnetic resonance imaging(MRI)showed bilateral cerebral hemisphere atrophy and diffuse abnormal signals.The whole exome sequencing test showed two heterozygous mutations of the DARS2 gene in the present case.There are no reports of early-onset LBSL gene mutation in Chinese population.A total of 6 related foreign literatures have been reported.All affected cases present psychomotor development disorders and other encephalopathy manifestations.Brain MRI involvement and DARS2 gene mutations are found in previous reports.Therefore,for children with developmental retardation,epilepsy,and diffuse abnormal signals in both cerebral hemispheres examined by brain MRI,genetic testing is recommended to confirm the diagnosis,guide prenatal diagnosis and genetic counseling.

关 键 词：脑白质病 脑干和脊髓受累 乳酸增高 早发型 DARS2基因 

分 类 号：R742[医药卫生—神经病学与精神病学]