摘要
目的分析以周围神经损伤为特征的异染性脑白质营养不良(MLD)的临床特征与诊断。方法回顾分析1例以周围神经损伤为特征的MLD患儿的临床、实验室资料及基因检测结果。结果女性患儿,1岁半发现行走不稳,肌电图示神经源性损害,诊断为"腓总神经损伤"。2岁2个月时患儿运动功能倒退,双下肢肌张力逐渐增高;脑干听觉诱发电位示双侧波Ⅲ-Ⅳ间期大于Ⅰ-Ⅲ波间期;视觉诱发电位示P100潜伏期延长;头颅MRI示双侧侧脑室旁、半卵圆中心脑白质区对称性异常信号影;血氨基酸及尿有机酸谱检测未见明显异常,血白细胞芳基硫酸酯酶A(ARSA)活性为0.7nmol/(mg·h),属重度缺陷。基因测序示ARSA基因存在2处杂合突变,c. 808 G>T(p.D 270 Y)及c. 635 G>T(p.G 212 V),分别来自表型正常的父母。患儿确诊为MLD并伴有周围神经损伤。其父母及哥哥体健,无遗传家族史。结论 MLD以运动功能进行性倒退伴认知、精神障碍以及周围神经损伤为主要临床特征,MRI检查有助于诊断,基因分析及白细胞ARSA活性检测可以明确诊断。
ObjectiveTo investigate the clinical and laboratory features of a patient with metachromatic leukodystrophy （MLD） characterized by peripheral nerve injury. MethodsThe clinical, laboratory data and genetic result of a patient with MLD characterized by peripheral nerve injury were retrospectively analyzed. ResultA female patient with electromyographic evidence of neurogenic damage presenting walking instability at 18 months after birth, was diagnosed as common peroneal nerve injury. At 26 months old of age, the patient presented with retrogression of motor function, muscular tension of lower extremity gradually increased. Brainstem auditory evoked potentials showed bilateral Ⅲ-Ⅳ wave interval was greater than theⅠ-Ⅲ wave interval; visual evoked potentials showed prolonged P100 latency. MRI showed bilateral symmetry of the paraventricular nucleus and semioval center white matter area abnormal signals. Plasma carnitine ester profiling and urinary organic acid analysis showed no signifcant abnormalities. Gene sequencing of arylsulfatase A ARSA identifed two heterozygous mutations c.808G〉 T （p.D270Y） and c.635G〉 T （p.G212V） which inherited from her phenotypically normal parents. A severe defciency of Arylsulfatase A （ASA） activity was found in peripheral blood leukocytes （0.7 nmol/mg/h）. She was diagnosed as MLD and her parents and brother were healthy with unremarkable family history. ConclusionsThe main clinical features of MLD are progressive degeneration of motor function with cognitive, mental disorders and peripheral nerve injury. MRI can help diagnosis. Gene analysis and ASA activity test are important for diagnosis.
作者
郑宏
牛冬鹤
梁瑞星
冯斌
周正
马丙祥
ZHENG Hong;NIU Donghe;LIANG Ruixing;FENG Bin;ZHOU Zheng;MA Bingxiang(The First Affliated Hospital of Henan University of TCM,Zhengzhou 450000,Henan,China;Henan University of TCM,Zhengzhou 450008,Henan,China)
出处
《临床儿科杂志》
CAS
CSCD
北大核心
2018年第11期816-819,共4页
Journal of Clinical Pediatrics
基金
国家重点研发计划(No.2017YFC1001704)
