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Mitochondrial respiratory chain complex IV deficiency presenting as neonatal respiratory distress syndrome


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
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