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An interesting case of antenatal hiccups – a clue aiding a prompt diagnosis of non-ketotic hyperglycinaemia
  1. F Harries
  1. General Paediatrics, Doncaster Royal Infirmary, Doncaster, UK

Abstract

A term baby returned for a routine neonatal discharge check on her second day of life. On examination was found to be apnoeic and hypotonic. She then had a generalised seizure, terminated by phenobarbitone.

Over the course of the next 24 hours she was invasively ventilated having become completely apnoeic. She received treatment for possible sepsis including anti viral treatment. The only positive results yielded from blood testing and imaging were small ventricles on cranial ultrasound and a raised gamma glutamyl transferase.

It was noted that the patient was hiccupping and on revisiting the antenatal history her mother commented she had thought her daughter had hiccupped consistently (multiple times every day) from twenty weeks gestation.

With this history and her clinical presentation a neurological opinion was sought. Many plasma, urine and cerebrospinal fluid (CSF) investigations were requested. The paired plasma and CSF glycine levels were in a ratio of 0.4 (normal up to 0.06). This confirmed the clinical suspicion of non-ketotic hyperglycinaemia. This baby was referred to a tertiary intensive care unit, for neurological opinion and withdrawal of life support.

This case illustrates the importance of a thorough antenatal history when reviewing babies ready for discharge as well as the danger of babies being discharged home prior to being reviewing a formal neonatal check. With the postnatal wards needing beds there is significant pressure to review the babies within the first day of life, many are being discharged before paediatric review. The case also revealed the importance of beginning discussions of possible outcomes including withdrawal of life support and palliation, at a local level before transfer to another centre.

The outcome for this baby would not have been different. However, there are babies who potentially have serious pathology that would require prompt investigation, diagnosis and life saving treatment. The practice of babies being discharged before neonatal discharge check needs review. Trainees are often the doctors best positioned to begin breaking bad news but sometimes we can be afraid we are doing it inadequately and shy away from doing so.

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