例1 男,8个月。第4胎足月平产,生后常有青苔色稀便,7～10次/日,经多种抗生素治疗无效。2个月后出现精神差,皮肤黄,腹部渐增大,体格、智力发育较同龄儿差。1月前,因发热、肝脾肿大入院。无反复发热及出血史。父母非近亲婚配,父有贫血,母、姐体健。体查:发育营养差,表情痴呆,贫血貌,方颅,前囟2.5×2.5cm,未萌牙,皮肤、巩膜无黄疸、应疹及出血点,颈部及腹股沟可触及数个 Example 1 male, 8 months. The fourth full-term fetus labor, after birth, often moss color loose stool, 7 to 10 times / day, after a variety of antibiotic therapy ineffective. 2 months after the poor spirit, yellow skin, abdomen gradually increased, physical, mental development worse than the same age children. 1 month ago, due to fever, hepatosplenomegaly admission. No history of repeated fever and bleeding. Parents non-relatives marriage, the father has anemia, mother, sister physical health. Physical examination: developmental malnutrition, dementia, anemia, square skull, anterior fontanel 2.5 × 2.5cm, non-adorable teeth, skin, sclera without jaundice, rash and bleeding, neck and groin can reach a few