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患儿,女,1岁4个月。因“四肢无力10月余”于1987年7月10日来诊。生后6月内生长发育如常儿,以后逐渐出现四肢无力,双手不能握住东西,已学会的独坐功能又复消失,至今不能站立,可叫“大、大”“妈、妈”,无抽风史。系第二胎二产,足月顺产,生后无窒息。母乳喂养6个月后,因出现上述症状,停哺母乳,不但未能缓解,反而愈来愈重。兄患同样疾病,其发病年龄及临床表现与患儿完全相同,病程呈进行性,于3岁时死于肺炎。父母非近亲结婚。
Children, women, 1 year old 4 months. Due to “limb weakness in October more than” in July 10, 1987 visit. After 6 months of life growth and development of children as usual, gradually after the limbs weakness, his hands can not hold things, have learned to sit function again disappear, so far can not stand, can be called “big,” “mother, mother,” no Ventilation history. Department of the second child of the second birth, term full-term, no suffocation after birth. Six months after breastfeeding, due to the above symptoms, stop breastfeeding, not only failed to alleviate, but getting heavier and heavier. Brother suffering from the same disease, its age of onset and clinical manifestations exactly the same with the children, the course was progressive, died of pneumonia at the age of 3 years. Parents marry non-relatives.