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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 investigate the classification, pathogenesis, clinical manifestation, treatment and prognosis of spinal muscular atrophy and to raise awareness of the disease. Methods The clinical manifestations, treatment and prognosis of 2 children with spinal muscular atrophy who were hospitalized with respiratory diseases and died of respiratory failure were retrospectively analyzed. Results Spinal muscular atrophy was classified into four types, of which type Ⅰ was early onset and onset within 6 months after birth. Children were unable to sit and usually died before the age of 2 years. It is the most serious type in all clinical types. Knee children with reflex decreased or disappeared and the development of intelligence and normal sense are the main points with the identification of other neurological diseases, genetic testing can confirm the diagnosis. Conclusions Spinal muscular atrophy is a rare disease. Misdiagnosis and missed diagnosis are easy in the early stage. There is no effective treatment for this disease. Clinical support is mainly symptomatic treatment and the prognosis is poor. We need to be vigilant.