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Lysinuric protein intolerance presenting as pancytopenia and splenomegaly mimicking acute leukaemia: a case report.

Chanika LokuhewageHashan PathirajaPiyumi MadawalaSudarshana BandaraSachith Mettananda
Published in: BMC pediatrics (2023)
We report a child with lysinuric protein intolerance presenting with pancytopenia and splenomegaly without other disease features. This case report adds to the heterogenic presentations of lysinuric protein intolerance, which is considered a multifaceted disease.
Keyphrases
  • case report
  • protein protein
  • amino acid
  • binding protein
  • intensive care unit
  • hepatitis b virus
  • respiratory failure
  • extracorporeal membrane oxygenation