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Rare disease
CASE REPORT
Mitochondrial respiratory chain complex IV deficiency presenting as neonatal respiratory distress syndrome
  1. Shrinal Kotecha1 and
  2. Venkatesh Kairamkonda2
  1. 1 Leicester Royal Infirmary, Leicester, UK
  2. 2 Leicester Royal Infirmary, Neonatal Intensive Care Unit, Leicester, UK
  1. Correspondence to Dr Shrinal Kotecha, shrinalkotecha93{at}gmail.com

Abstract

A term girl infant delivered following foetal distress presented with early respiratory distress syndrome and lactic acidaemia. She subsequently underwent detailed investigation for primary lactic acidaemia and was identified as homozygous for the c.515A>G,p.(Tyr172Cys) missense variant in the LRPPRC gene. Variants in this gene are known to cause French-Canadian type Leigh syndrome. Both parents were confirmed to be heterozygous for this mutation. This is the first case report of mitochondrial respiratory chain complex IV deficiency presenting as foetal distress and neonatal respiratory distress syndrome.

  • genetics
  • genetic screening / counselling
  • parenteral/enteral feeding
  • paediatrics
  • failure to thrive

https://doi.org/10.1136/bcr-2019-229668

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    Footnotes

    • Contributors SK was the main author. VK was involved in the review of the case report.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Patient consent for publication Parental/guardian consent obtained.