婴儿型脊髓性肌萎缩症39例  

Infantile spinal muscular atrophy in 39 children

作　　者：刘芳[1,2] 牛丰南[4] 宋建敏[1] 朱敏[3] 陆海英[1] 

机构地区：[1]苏州大学附属儿童医院神经内科 [2]南京大学医学院附属鼓楼医院病理科 [3]南京医科大学附属南京儿童医院神经内科,210008 [4]南京医科大学附属南京儿童医院康复科,210008

出　　处：《中华实用儿科临床杂志》2015年第24期1873-1876,共4页Chinese Journal of Applied Clinical Pediatrics

基　　金：国家自然科学基金青年项目（81300977）;南京市科技发展计划项目（201402021）

摘　　要：目的 提高对婴儿型脊髓性肌萎缩症（SMA-Ⅰ型）的认识和早期诊断、干预与治疗水平.方法 回顾分析39例SMA-Ⅰ型患儿的临床资料,对SMA-Ⅰ型患儿的临床表现、神经电生理特征、基因型、诊断、治疗、预后等进行分析.结果 39例SMA-Ⅰ型患儿中,37例（94.9％）患儿在出生6个月之内发病,四肢呈对称性、迟缓性瘫痪,下肢重于上肢,近端重于远端,肌张力低下,腱反射消失.32例（82.1％）患儿血清肌酸激酶（CK）正常,7例（17.9％） CK轻度升高.神经电生理检查显示受检的176块肌肉中,169块（96.0％）有自发电位;160块四肢肌肉有35块（21.8％）运动单位电位（MUP）发放极少,117块（73.1％） MUP时限增宽,104块（65.0％）MUP波幅增高;167条周围运动神经有160条（95.8％）复合肌肉动作电位（CMAP）波幅降低,162条（97.0％）运动传导速度（MCV）正常;93条（100.0％）感觉神经传导在正常范围.基因检测示38例第7、8外显子纯合缺失,1例第7外显子纯合缺失、第8外显子杂合缺失.有效随访30例,6例在出生2-3个月、4例在出生10个月、12例在出生12-18个月死亡.6例存活至2岁,2例存活至3岁,均死于肺部感染.结论 SMA-Ⅰ型患儿具有较典型的临床表现和神经电生理特征,神经电生理检查可作为SMA-Ⅰ型重要的诊断、鉴别诊断方法,基因检测可作为胎儿产前诊断及患儿确诊依据,通过综合性干预治疗可提高患儿生活质量.Objective To improve the recognition for infantile spinal muscular atrophy （SMA-Ⅰ） and the level of early diagnosis,intervention and treatment for SMA-Ⅰ.Methods The clinical data of 39 patients with SMA-Ⅰ were analyzed retrospectively, including the clinical manifestations, neural electrophysiological characteristics, geno-type, diagnosis,treatment and prognosis of SMA-Ⅰ.Results Of the 39 cases with SMA-Ⅰ , 37 cases （94.9%） had onset in 6 months after birth.The paralyses of the limbs were symmetrical and flaccid.The lower was more severe than the upper , and the proximal was more severe than the distal, hypotonia and tendinous reflex disappears.Thirty-two cases （82.1%） had normal serum creatine kinase, and 7 cases （17.9%） increased slightly.Nerve electrophysiological examination showed that 169 （96.0%） had spontaneous potentials in 176 muscles.Of 160 limb muscles,35 （21.8%） released few motor unit potential （MUP） ,117 （73.1%） extended the duration of MUP and 104 （65.0%） increased the amplitude of M UP.Of 167 peripheral motor nerves, 160 （95.8%）decreased the amplitude of the compound muscle action potential and 162 （97.0%） had normal motor conduction velocity.Of 93 peripheral sensory nerves, 93 （100.0%） had normal range of the conduction.The gene detection showed that 38 cases had homozygous deletion of exon 7,8, and 1 case had homozygous deletion of exon 7 and heterozygous deletion of exon 8.In the effective follow-up of 30 cases,6 cases died in the 2-3 months after birth,4 cases died in 10 months after birth, 12 cases died in 12-18 months after birth.Six cases survived to 2 years old,2 cases survived to 3 years old,and all of them died of pulmonary infection.Conclusions There are typical clinical and nerve electrophysiological characteristics for SMA-I.Nerve electrophysiological examination can be used as an important method for diagnosis and differential diagnosis for SMA-I.Genetic testing can be used to identify the disease and make prenatal diagnosis.T

关 键 词：脊髓性肌萎缩症 婴儿型 诊断 治疗 

分 类 号：R746.4[医药卫生—神经病学与精神病学]