例1，男孩，3岁，因皮肤及粘膜色素沉着4个月，加重伴四肢无力半月入院。患儿于入院前4个月曾发热，体温39．0℃，抽搐1次，持续约4～5分钟，经用解热药及抗感染治疗后，2天体温下降，此后渐发现患儿皮肤色素沉着，近半月加重，消瘦明显，四肢无力、烦躁，精神差，时有恶心呕吐 Example 1, boy, 3 years old, due to skin and mucosal pigmentation for 4 months, exacerbated with limb weakness half-hospitalization. Children 4 months before admission had fever, body temperature 39.0 ℃, convulsions 1, for about 4 to 5 minutes, after treatment with antipyretics and anti-infectives, body temperature decreased 2 days, then gradually found in children with skin Pigmentation, nearly half of the increase, weight loss significantly, limb weakness, irritability, mental retardation, nausea and vomiting