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CASE REPORT
More than meets the eye: infant presenting with hypoxic ischaemic encephalopathy

Summary

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.

  • neuro genetics
  • congenital disorders
  • neonatal and paediatric intensive care

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