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abstractpubmed· Abstract 2018· item PMID:29622709
More than meets the eye: infant presenting with hypoxic ischaemic encephalopathy. 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.