患儿 男,28天。因腹胀2周,抽搐3次,于1993年3月13日入院。其父母非近亲婚配,无类似病史。体检:体温37.2℃,脉搏136次,呼吸40次。新生儿貌,面色苍白。方颅,前囟平,面肌及四肢抽动,双眼上翻。心肺无异常。腹胀,肝肋下2cm,脾肋下1.5cm。实验室检查:血红蛋白139g/L,白细胞20.2×10~9/L,中性粒细胞0.70,淋巴 Children male, 28 days. Due to bloating for 2 weeks, convulsions 3 times, on March 13, 1993 admission. Their parents were married to non-relatives and had no similar history. Physical examination: body temperature 37.2 ℃, pulse 136 times, breathing 40 times. Newborn appearance, pale. Cranium, anterior fontanelle, facial muscles and limbs twitching, eyes turned upside down. No abnormal heart and lung. Bloating, liver ribs 2cm, spleen rib 1.5cm. Laboratory tests: hemoglobin 139g / L, white blood cells 20.2 × 10 ~ 9 / L, neutrophils 0.70, lymph