1. Pearson syndrome in a child transplanted for Diamond-Blackfan anemia.
- Author
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Uygun V, Daloğlu H, Öztürkmen S, Karasu G, and Yeşilipek A
- Subjects
- Child, Congenital Bone Marrow Failure Syndromes, Humans, Muscular Diseases, Anemia, Diamond-Blackfan, Lipid Metabolism, Inborn Errors, Mitochondrial Diseases
- Abstract
Pearson syndrome (PS), shares a number of overlapping features with Diamond-Blackfan anemia (DBA), including early onset of severe anemia, making differential diagnosis important. Differential diagnosis of DBA and PS is critical, since those with DBA may respond to treatment with steroids, may undergo remission, or may benefit from hematopoietic stem cell transplantation (HSCT). However, patients with PS have a different prognosis, with a very high risk of developing acidosis, metabolic problems, and pancreatic dysfunction, and a shorter life expectancy than those with DBA. Here we present a patient who underwent HSCT for DBA but was subsequently diagnosed with PS after developing some complications., Competing Interests: None, (Sociedad Argentina de Pediatría.)
- Published
- 2021
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