婴儿型脊肌萎缩症22例临床分析

Clinical analysis of 22 patients with infantile spinal muscular atrophy

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。

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 creatine kinase（CK） and lactate dehydrogenase（LDH） in serum were normal or elevated than normal level. Electromyography demonstrated motoneuron degeneration. Muscle biopsy showed muscle fibers atrophy, degeneration and necrosis, consistent with the changes of spinal muscular atrophy. Conclusion There are unique clinical and electrophysiology features for infantile spinal muscular atrophy, and electromyography may play an important role in the diagnosis. Muscle biopsy can provide objective diagnostic evidence for spinal muscular atrophy. Recently the genetic study is developing rapidly. Symptomatic treatment is the main treatment.