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Pearson syndrome
Pearson syndrome[MIM #557000] Sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction; usually lethal in infancy. Synonym(s): Pearson marrow pancreas syndromePearson syndrome A mitochondrial disease characterized by early onset BM dysfunction leading to pancytopenia & pancreatic failure, which may progress to Kearns-Sayre syndrome. See Mitochondrial disease. Pearson, H.A., Pearson syndrome - refractory sideroblastic anemia; malabsorption or other pancreatic exocrine insufficiency. |