Pearson syndrome: a rare inborn error of metabolism with bone marrow morphology providing a clue to diagnosis

Abstract

Pearson syndrome is a rare disorder of mitochondrial metabolism presenting in infancy with transfusion dependent refractory anaemia and multisystem involvement. We report a case of a 3-month-old infant presenting with anaemia requiring multiple transfusions. The presence of lactic acidosis, hyperglycaemia and cytoplasmic vacuoles in erythroid precursors on bone marrow aspiration study helped to suspect the diagnosis. However, the baby succumbed to metabolic crisis before he could be offered definitive therapy. This case report aims to emphasise the typical bone marrow aspiration finding which serves as a useful marker for establishing the diagnosis of this rare disorder, which is mostly fatal without bone marrow transplantation.

Keywords: Infants; Mitochondrial disorders; Pearson marrow-pancreas syndrome; Refractory anaemia.