Clinical case of Pearson syndrome in a 6-month-old child

Abstract

Pearson syndrome (PS) is a rare mitochondrial disorder that typically manifests as transfusion-dependent macrocytic anemia, exocrine pancreatic dysfunction and lactic acidosis. Typical features of the bone marrow in PS are reduced cellularity, vacuolation of hematopoietic precursors and ringed sideroblasts. PS clinical manifestations may differ in neonatal age and develop as damage to various organs and systems. The PS incidence is unknown as yet with only about 100 patients described in scientific sources since the initial report. The Article presents a modern bibliographical review on PS and a description of a clinical case in a 6-month-old child that had manifested since birth as transfusion-dependent anemia, leukopenia and thrombocytopenia. Conclusion: examination of bone marrow puncture allows rapid assuming of a PS diagnosis in a patient.