SPTLC2基因突变导致中间型腓骨肌萎缩症一家系  

SPTLC2 gene mutation leads to intermediate Charcot-Marries-Tooth disease:a family report

作　　者：孟健 付俊[3] 杜康 初旭珺 孟令超 吕鹤[1] 王朝霞[4] 袁云[4] Meng Jian;Fu Jun;Du Kang;Chu Xujun;Meng Lingchao;Lyu He;Wang Zhaoxia;Yuan Yun(Department of Neurology,Peking University First Hospital,Beijing 100034,Chi;Department of Neurology and Psychiatry,Medical College of Shanxi Datong University,Datong 037009,China;Department of Neurology,Henan Provincial People′s Hospital,Kaifeng 450003,China;Department of Neurology,Peking University First Hospital,Rare Disease Center,Peking University First Hospital,Beijing 100034,China)

机构地区：[1]北京大学第一医院神经内科,北京100034 [2]山西大同大学医学院神经病学与精神病学教研室,大同037009 [3]河南省人民医院神经内科,开封450003 [4]北京大学第一医院神经内科北京大学第一医院罕见病中心,北京100034

出　　处：《中华神经科杂志》2022年第12期1353-1358,共6页Chinese Journal of Neurology

摘　　要：目的:报道1个SPTLC2基因突变导致的腓骨肌萎缩症表型家系。方法:从北京大学第一医院神经内科的遗传性周围神经病数据库筛选携带SPTLC2基因致病突变的患者家系,并收集其先证者的临床资料、周围神经传导检查、神经超声检查和腓肠神经病理检查及全外显子基因测序结果。结果:经筛选得到1个家系,其先证者为16岁女性,出现双下肢远端痛觉减退和无汗4年,行走困难16个月,于2022年1月就诊于北京大学第一医院。体格检查发现四肢远端痛觉减退和皮肤干燥,双下肢远端肌力下降。其父亲在儿童期出现下肢远端麻木无汗,成年期出现下肢无力和萎缩,于52岁病故。先证者神经传导提示四肢感觉神经和下肢的运动神经动作电位未引出,双侧尺神经和正中神经运动传导复合肌肉动作电位波幅降低,双侧正中神经传导速度分别为32 m/s和24 m/s。神经超声可见周围神经增粗。腓肠神经活组织检查提示有髓和无髓神经纤维重度丢失伴随洋葱球样结构。全外显子基因测序结果显示患者SPTLC2基因存在已知p.G435V杂合突变。经予以L-丝氨酸口服后患者下肢无力好转。结论:SPTLC2基因突变可以导致中间型腓骨肌萎缩症表型,L-丝氨酸可以改善其运动症状。Objective To report a SPTLC2 gene mutation in a family with a phenotype of Charcot-Marie-Tooth disease.Methods To screen the family of patients with pathogenic mutations of SPTLC2 gene from the database of hereditary peripheral neuropathy in the Department of Neurology,Peking University First Hospital,and to collect their clinical data,peripheral nerve conduction examination,nerve ultrasound examination,pathological examination of the peroneal nerve and whole exome sequencing results of prohand.Results One family was screened,the proband was a 16-year-old female with 4 years of sensory loss and anhidrosis of both lower limbs and 16 months of walking difficulty who admitted to Peking University First Hospital in January 2022.Physical examination showed sensory loss,dry skin and weakness in distal limbs.Her father had numbness and dry skin in the distal lower limbs from childhood,weakness and atrophy of his lower limbs in adulthood.He died at age of 52 years old.The nerve conduction study revealed no action potentials of the sensory and motor nerves of the lower limbs in the proband.The amplitude of the compound muscle action potential of the motor conduction of the bilateral ulnar nerve and median nerve decreased,and the nerve conduction velocity of the bilateral median nerve were 32 m/s and 24 m/s.Neurosonography showed thickening of peripheral nerves.Sural biopsy revealed severe loss of myelinated and unmyelinated nerve fibers with onion bulbs formation.SPTLC2 gene showed a known heterozygous p.G435V mutation.The lower limb weakness was improved after oral L-serine.Conclusions SPTLC2 gene mutation can lead to an intermediate Charcot-Marie-Tooth disease phenotype.L-serine can improve the limb weakness.

关 键 词：夏科-马里-图斯病 遗传性感觉和自主神经性神经病 丝氨酸C-棕榈酰转移酶 突变 系谱 

分 类 号：R746.4[医药卫生—神经病学与精神病学]