病史摘要:马××,女,三岁,患儿第二胎,足月分娩,出生时正常,六个月后表情呆板,不能独坐,翻身;对外界无反应;一周岁智力差,不会站、走、爬,双腿明显发软;两岁时伴有间断抽风,在某医院就诊,诊断为“脑发育不全”;三岁尚不能辨认父母,不会讲简单话,大小便不能自理,尿有奇臊味。 Ma xx, female, three years old, second child with full-term childbirth, normal at birth, six months after the expression is dull, can not stand alone, stand up; no reaction to the outside world; Will be standing, walking, climbing, legs obviously softened; two years old with intermittent ventilation, a hospital for treatment, diagnosed as “brain hypoplasia”; three-year-old can not identify their parents, can not speak simple words, urine can not Take care of themselves, urine odd smell.