论文部分内容阅读
家族性婴儿型进行性脊肌萎缩症国内报告不多。患儿1岁,女,生后8个月先后出现双下肢及双上肢肌肉松弛无力,进行性加重,活动减少,哭声低弱。患儿系第3胎,过期产,混合喂养。父母非近亲婚配。染色体正常。其母孕期无明显异常。长女生后7个月,次女生后8个月均出现进行性加重的四肢肌肉松弛无力,并分别于生后8个月和12个月死于肺炎。查体:双肺呼吸音粗。心音低。肝肋下3cm,剑下1cm。脊柱缺乏生理性弯曲,四肢肌肉萎缩,肌张力低,肌力0度,
Familial infantile progressive spinal muscular atrophy few domestic reports. Children 1 year old, female, 8 months after birth, there have been double lower extremity and upper extremity muscle weakness, progressive increase, activity decreased, crying low. Children in the third child, expired, mixed feeding. Parents non-relatives marriage. Chromosome normal. The mother had no significant abnormalities during pregnancy. Long girls 7 months after the secondary girls 8 months later were exacerbated extremity muscles loose weakness, and were 8 months and 12 months after birth died of pneumonia. Physical examination: lung breath sounds thick. Low heart sound. Liver ribs 3cm, sword 1cm. Lack of physiological curvature of the spine, limb muscle atrophy, low muscle tone, muscle strength of 0 degrees,