The Turkish Journal of Pediatrics 2008 , Vol 50 , Num 6
Two new cases with Pearson syndrome and review of Hacettepe experience
1Units of Pediatric Nephrology and Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey
2AP-HP, Hôpital Necker-Enfants Malades, Département de Génétique, Paris, France
3Units of Pediatric Hematology, Hacettepe University Faculty of Medicine, Ankara, Turkey
4Units of Pediatric Metabolism, Hacettepe University Faculty of Medicine, Ankara, Turkey
5Units of Pediatric Pathology, Hacettepe University Faculty of Medicine, Ankara, Turkey
Topaloğlu R, Lebre AS, Demirkaya E, Kuşkonmaz B, Coşkun T, Orhan D, Gürgey A, Gümrük F. Two new cases with Pearson syndrome and review of Hacettepe experience. Turk J Pediatr 2008; 50: 572-576.

Pearson syndrome (PS) is a mitochondrial disease and clinical presentation is rather varied. These patients are often subjected to extensive biochemical and clinical work-up for diagnosis. We report two new cases and review our experience with PS in Hacettepe University. The first case had large deletion of mitochondrial DNA (mtDNA) and presented with severe metabolic acidosis and anemia associated with hemophagocytosis in bone marrow. He also had liver involvement and tubulopathy. The second case, who had the 4997 bp common deletion, presented with anemia at 8 weeks of age followed by an uneventful 4 years. She developed very severe acidosis and renal Fanconi syndrome at the age of 4.5 years. Our cases revealed once more the clinical diversity of the disease and no correlation between the size and site of mtDNA deletion and clinical presentation. We encourage physicians to look for PS in children with early sideroblastic anemia and multiple organ system involvement. Keywords : Pearson marrow syndrome, mtDNA deletion, refractory anemia, sideroblastic anemia, renal tubulopathy, hemophagocytosis

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