Quando una sepsi neonatale nasconde una malattia metabolica

A 50-day-old boy presented with failure to thrive, hypotonia, pustular lesions and facial erythema, neutropenia and multiple positive cultures to Staphylococcus aureus. He was treated with intravenous antibiotics without clinical benefit. He developed hepatosplenomegaly, gastritis, two episodes of hemolytic anemia and eventually HUS with renal failure and metabolic acidosis which led to death. Aminoacid analysis showed elevated plasma homocysteine levels and high levels of both homocysteine and methyl-malonic acid in the urine, compatible with the diagnosis of cobalamin C disease. Cobalamin C disease should be considered in the diagnosis of patients with HUS and pancytopenia.