男,4月。出生后2月开始全身皮肤色素沉着,并逐渐加重,奶欲减退,无呕吐,不发热,精神尚可。较前稍消瘦,但身长继续增长。近4天出现发热(39～40℃),频繁抽搐、无咳端,小便量稍多。在外院用红霉素、地塞米松治疗无效。第三胎,足月顺产。出生体重3.5kg,生后无窒息及黄疸,无肝炎和结核病史。父母体健,非近亲婚配,姐健康,兄于出 Male, April. Whole body skin pigmentation started in February after birth, and gradually increased, decreased milk, no vomiting, no fever, the spirit is acceptable. A little thinner than before, but the body continues to grow. Nearly 4 days fever (39 ~ 40 ℃), frequent convulsions, no cough end, urine slightly more. In the hospital with erythromycin, dexamethasone treatment ineffective. The third child, full-term birth. Birth weight 3.5kg, postpartum asphyxiation and jaundice, no history of hepatitis and tuberculosis. Parents physical health, non-relatives marriage, sister health, brother out