婴儿型脊肌萎缩症22例临床分析

目的 探讨婴儿型脊肌萎缩症的发病机制、临床与病理特征及诊断.方法 对22例确诊为婴儿型脊肌萎缩症患者的临床表现、实验室资料、病理资料进行了回顾性分析.结果 本病临床特点患儿大多为8个月内起病,四肢呈对称性、迟缓性瘫痪,下肢重于上肢,近端重于远端;有肌萎缩,血清CK、LDH正常或增高;肌电图显示神经源性损害,肌活检见肌纤维萎缩、变性、坏死,符合脊肌萎缩症的改变.结论 婴儿型脊髓性肌萎缩症有较典型的临床及电生理特征,肌电图检查是重要的诊断方法,肌活检可为脊肌萎缩症的诊断提供客观的诊断依据,目前对本病主要采取对症治疗.

Clinical analysis of 22 patients with infantile spinal muscular atrophy

Objective To investigate the pathogenesis,diagnosis,clinical and pathological features of spinal muscular atrophy in infants.Method Twenty-two patients were retrospectively studied in term of the clinical manifestations,pathological examination and laboratory data.Results The children were ill in 8 months old,with the symptom that four limbs present symmetry and slow paralysing,and low limbs being more serious than upper limbs,the proximate being more serious than the distant of the four limbs.The level of ...