Background: Glucose-6-phosphatase Dehydrogenase (G6PD) deficiency causes acute hemolysis when exposed to oxidative stress. Methemoglobinemia has been associated with G6PD deficiency, and recognition is important to avoid further complications.
Case Presentation: A 3-year-old healthy boy presents to the pediatric emergency department with acute onset of difficulty in breathing, perioral cyanosis and hypoxia not responding to oxygen therapy. Transfusion of packed red blood cells was given with improvement of symptoms. Laboratory results were significant for anemia and methemoglobinemia. Further tests revealed deficiency in glucose-6-phosphatase dehydrogenase enzyme.
Discussion: G6PD deficiency can cause acute hemolytic anemia. Cyanosis can be exacerbated by the presence of methemoglobinemia. Management must include transfusion of packed red blood cells and avoidance of methylene blue to prevent further hemolysis.
Conclusion: G6PD deficiency can manifest after exposure to oxidative stressors with acute onset hemolytic anemia and hypoxia. Occasionally methemoglobinemia could be present contributing to worsening symptoms.
Published Date: 2020-06-01; Received Date: 2020-04-18