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Bone marrow features in Pearson syndrome with neonatal onset: A case report and review of the literature
Author(s) -
Tadiotto Elisa,
Maines Evelina,
Degani Daniela,
Balter Rita,
Bordugo Andrea,
Cesaro Simone
Publication year - 2018
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.26939
Subject(s) - medicine , macrocytic anemia , lactic acidosis , anemia , bone marrow , aplastic anemia , bone marrow failure , vacuolization , pathology , presentation (obstetrics) , pediatrics , haematopoiesis , surgery , stem cell , genetics , biology
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.