Pearson Syndrome Presenting as Nonimmune Hydrops Fetalis With Severe Pancytopenia in a Premature Neonate: A Case Report

Pearson syndrome is a rare multisystem mitochondrial disorder caused by deletions in mitochondrial DNA and classically characterized by sideroblastic anemia, bone marrow dysfunction, and pancreatic insufficiency.Neonatal presentation is uncommon and may pose a significant diagnostic challenge.We report the case of a premature female neonate who presented with nonimmune hydrops fetalis, profound anemia, severe neutropenia, recurrent inflammatory episodes, persistent pancytopenia, and transient hyperglycemia requiring insulin therapy.Extensive investigations failed to identify an infectious, hematologic, cardiac, or metabolic cause.Bone marrow aspiration demonstrated findings consistent with bone marrow failure, and whole exome sequencing subsequently confirmed a mitochondrial DNA deletion syndrome consistent with Pearson syndrome.This case highlights the importance of considering mitochondrial disorders in neonates presenting with unexplained hydrops fetalis and persistent cytopenias.