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35天男婴,因间断抽搐23天收住院,曾按“低钙抽风”给钙剂、维生素D 治疗效差。查体:身长53cm,头围34.8cm,营养欠佳,皮肤弹性差,皮下脂肪薄,头颅无畸形,前囟平软约2×2cm,心肺腹无殊,四肢肌力、肌张力正常。系第一胎,第一产,足月顺产,新法接生,生后无窒息及产伤,无遗传代谢性疾病家族史,血钙、血磷正常,血AKP18U,头颅CT 检查确诊为先天性脑穿通畸形囊肿。
35 days baby boy, admitted to hospital for intermittent twitching 23 days, had according to “low calcium ventilation” to calcium, vitamin D treatment ineffective. Physical examination: body length 53cm, head circumference 34.8cm, poor nutrition, poor skin elasticity, thin subcutaneous fat, cranial deformity, soft anterior fontanelle about 2 × 2cm, cardiopulmonary abdomen without special, limb muscle strength, muscle tone normal. Department of first birth, first birth, full-term follow-up, the new law birth, no postpartum asphyxia and birth trauma, no family history of hereditary metabolic disease, serum calcium, serum phosphorus normal, blood AKP18U, head CT diagnosis of congenital brain Through the abnormal cysts.