An infant with mosaic trisomy 13, who was small for gestational age, became severely hypoglycaemic. For the first 19 days of life, glucose requirements to maintain normoglycaemia were high (up to 21.7 mg/kg/min) and at the same time the infant had high plasma insulin levels and low glucose insulin ratios. Treatment with hydrocortisone and susphrine was of questionable benefit. Hyperinsulinism abated by the third week of life. This case illustrates early remission of hyperinsulinaemic hypoglycaemia and raises the possibility of an association with trisomy 13.
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机译:胎龄较小的患有镶嵌三体性13的婴儿严重降血糖。在生命的前19天中,维持正常血糖的葡萄糖需求量很高(高达21.7 mg / kg / min),同时该婴儿的血浆胰岛素水平较高,而葡萄糖胰岛素比率较低。氢化可的松和苏氨酸治疗的疗效令人怀疑。高胰岛素血症在生命的第三周减少。该病例说明高胰岛素血症性低血糖症的早期缓解,并增加了与13三体性疾病相关的可能性。
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