BMC Pediatr 2022 04 29;22(1):233. Epub 2022 Apr 29.
Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, 270 Rama 6 Rd., Rajthewi, Bangkok, 10400, Thailand.
Background: Transcobalamin deficiency is a rare inborn metabolic disorder, characterized by pancytopenia, megaloblastic anemia, failure to thrive, diarrhea, and psychomotor retardation.
Case Presentation: We describe a patient who first presented at 3 months of age, with pancytopenia, hepatosplenomegaly, recurrent infection, metabolic acidosis, and acute hemolytic crisis. Extensive hematologic and immunologic investigations did not identify inherited bone marrow failure syndrome, acute leukemia or its related disorders. Read More