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先天性多发性垂体激素缺乏伴高氨血症:病例报告并文献复习。

Congenital multiple pituitary hormone deficiency associated with hyperammonemia: a case report with a short review of the literature.

机构信息

Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.

出版信息

J Perinatol. 2011 Feb;31(2):146-8. doi: 10.1038/jp.2010.143.

DOI:10.1038/jp.2010.143
PMID:21283082
Abstract

We herein report a case study of a female newborn with multiple pituitary hormone deficiencies who presented with generalized seizures, hypoglycemia and hyperammonemia at 18 h after birth. In addition, we review the association of hyperammonemia in neonates with multiple pituitary hormone deficiencies reported in the previous literature. This unrecognized association should be taken into account for the early diagnosis and treatment of these patients.

摘要

我们在此报告一例女性新生儿病例,其在出生后 18 小时出现全身抽搐、低血糖和高血氨,同时患有多种垂体激素缺乏症。此外,我们还回顾了先前文献中报道的新生儿高血氨与多种垂体激素缺乏症的关联。对于这些患者的早期诊断和治疗,应考虑到这种未被识别的关联。

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