表象之下另有隐情：一名患有缺氧缺血性脑病的婴儿。
More than meets the eye: infant presenting with hypoxic ischaemic encephalopathy.
作者信息
Sen Kuntal, Agarwal Rajkumar
机构信息
Division of Genetics, Children's Hospital of Michigan, Detroit, Michigan, USA.
Carman and Ann Adams Department of Pediatrics, Children's Hospital of Michigan, Detroit, Michigan, USA.
出版信息
BMJ Case Rep. 2018 Apr 5;2018:bcr-2017-223614. doi: 10.1136/bcr-2017-223614.
Abstract
We report a newborn infant who presented with poor Apgar scores and umbilical artery acidosis leading to the diagnosis of hypoxic ischaemic encephalopathy. During the course of the infant's hospitalisation, subsequent workup revealed an underlying genetic cause that masqueraded as hypoxic ischaemic encephalopathy.
摘要
我们报告了一名新生儿，其阿氏评分低且脐动脉酸中毒，最终诊断为缺氧缺血性脑病。在婴儿住院期间，后续检查发现了一个潜在的遗传病因，该病因伪装成缺氧缺血性脑病。
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本文引用的文献
1
Congenital central hypoventilation syndrome: a neurocristopathy with disordered respiratory control and autonomic regulation.先天性中枢性低通气综合征：一种神经嵴病，具有呼吸控制和自主调节障碍。
Clin Chest Med. 2014 Sep;35(3):535-45. doi: 10.1016/j.ccm.2014.06.010. Epub 2014 Jul 26.
2
Congenital central hypoventilation syndrome and the PHOX2B gene: a model of respiratory and autonomic dysregulation.先天性中枢性低通气综合征与 PHOX2B 基因：呼吸与自主神经失调的模型。
Respir Physiol Neurobiol. 2010 Oct 31;173(3):322-35. doi: 10.1016/j.resp.2010.06.013. Epub 2010 Jun 30.
3
An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.美国胸科学会官方临床政策声明：先天性中枢性肺泡通气不足综合征：遗传基础、诊断和治疗。
Am J Respir Crit Care Med. 2010 Mar 15;181(6):626-44. doi: 10.1164/rccm.200807-1069ST.
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