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

BMJ Case Rep. 2019 Jul 15;12(7):e229668. doi: 10.1136/bcr-2019-229668.

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.

Keywords: failure to thrive; genetic screening / counselling; genetics; paediatrics; parenteral/enteral feeding.

Publication types

  • Case Reports

MeSH terms

  • Acidosis, Lactic / etiology
  • Consanguinity
  • Cytochrome-c Oxidase Deficiency / complications*
  • Cytochrome-c Oxidase Deficiency / genetics
  • Fatal Outcome
  • Female
  • Homozygote
  • Humans
  • Infant, Newborn
  • Leigh Disease / genetics
  • Mutation / genetics
  • Neoplasm Proteins / genetics
  • Rare Diseases
  • Respiratory Distress Syndrome, Newborn / etiology*

Substances

  • LRPPRC protein, human
  • Neoplasm Proteins

Supplementary concepts

  • Leigh syndrome , French Canadian type