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婴儿脊髓性进行性肌萎缩也叫凡特尼-霍夫门病(Werdnig-Hoffmann s.Disease),是临床上较为罕见的病例,属家族性常染色体稳性遗传性疾病,病变主要为脊髓前角细胞及前根的变性。以生后不久出现全身进行性肌弛缓无力和腱反射消失为特点,据查国内外本病报告甚少,现将我们收治二例报告如下: 例1李某,女,6月,因5个月来全身肌肉无力,咳嗽20天入院。患儿系第二胎,第二产,足月顺产,出生时面色发青,哭声低弱,生后一个月四肢松软无力,吸吮力弱。3～6个月时表现咳嗽无力,不能摇头、抬头及翻身。但见人会笑,能辨认生熟人,能“呀呀”发语。父母非近亲婚配。
Infantile spinal muscular atrophy, also known as Wernerig-Hoffman disease (Werdnig-Hoffmann s.Disease), is a relatively rare clinical cases, is a familial autosomal dominant genetic disease, the main lesion for the spinal cord Degeneration of horn cells and forelimbs. To appear soon after birth systemic muscle weakness and disappearance of tendon reflexes is characterized by domestic and international investigation of this disease is rarely reported, now we receive two cases reported as follows: Example 1 Lee, female, in June, due to 5 Month body weakness, cough 20 days admitted. Children with a second child, the second birth, term full-term, born looking pale, crying weak, limbs soft and weak after a month of life, weak sucking. 3 to 6 months when the performance of cough, unable to shake his head, looked up and stand up. But see people will laugh, can identify raw and cooked, can “Ya Ya” language. Parents non-relatives marriage.