婴儿脊髓性肌萎缩症2例基因诊断并文献复习

Report of 2 genetic tested case of spinal muscular atrophy and literature review

目的探讨脊髓性肌萎缩症的分类、发病机制、临床表现、治疗及预后,提高对本病的认识。方法回顾性分析报告以呼吸道疾病为主诉入院并以呼吸衰竭而死亡的2例脊髓性肌萎缩症患儿的临床表现、治疗和预后。结果脊髓性肌萎缩症分四型,其中Ⅰ型发病早,出生后6个月内发病,患儿无法坐立,通常在2岁前死亡,是所有临床分型中最严重的一型,该类患儿膝反射减低或消失并且智力发育及感觉均正常是与其他神经系统疾病鉴别的要点,基因检测可明确诊断。结论脊髓性肌萎缩症是一种少见的疾病,早期易误诊及漏诊,本病无特效治疗方法,临床主要是对症支持治疗,且预后不良,需要我们提高警惕。

Objective： To analysis the pathogenesis, clinical manifestations, diagnosis, treatment and prognosis of Spinal Muscular Atrophy, and to improve the understanding of the disease. Methods： Retrospective analysis the clinical manifestations, treatment and prognosis of 2 cases of children with spinal muscular atrophy complained of respiratory diseases and later encounter respiratory failure and death. Results： Spinal Muscular Atrophy is divided into four type, 1 type is known as severe type, within 6 months after birth, children can＇t sit, usually die before the age of 2, and is the most serious in all clinical classification type, these patients＇ knee jerk to reduce or disappear but the development of intelligence and feelings are normal, genetic test can be diagnosed clearly. Conclusion： Spinal Muscular Atrophy is a rare disease, is easily misdiagnosed, there is no specific treatment of the disease, only clinical symptomatic support treatment.