Lysinuric protein intolerance presenting as pancytopenia and splenomegaly mimicking acute leukaemia: a case report.
Chanika LokuhewageHashan PathirajaPiyumi MadawalaSudarshana BandaraSachith MettanandaPublished 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.