Sen Kuntal, Agarwal Rajkumar
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.
BMJ Case Rep. 2018 Apr 5;2018:bcr-2017-223614. doi: 10.1136/bcr-2017-223614.
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.
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。
