Bone marrow features in Pearson syndrome with neonatal onset: A case report and review of the literature. Issue 4 (29th December 2017) - Tadiotto, Elisa
Abstract: Pearson syndrome (PS) is a rare mitochondrial disorder that usually presents with transfusion‐dependent macrocytic anemia, exocrine pancreatic dysfunction, and lactic acidosis. Typical bone marrow (BM) features are vacuolization in hematopoietic progenitors, hypocellularity, and ringed sideroblasts. At the neonatal age, PS may have a variable clinical onset. Moreover, there is little information about BM features at this age and the timing of their presentation. We report a neonatal case of PS that presented with refractory anemia and atypical BM features. We reviewed the BM findings in neonatal‐onset PS cases to stress the importance and limitations of BM evaluation at this age.