Two new cases with Pearson syndrome and review of Hacettepe experience.

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.

[1]  A. Rötig,et al.  A case of Pearson syndrome associated with multiple renal cysts , 1996, Pediatric Nephrology.

[2]  G. Janka.  Familial and acquired hemophagocytic lymphohistiocytosis , 2006, European Journal of Pediatrics.

[3]  A. Kara,et al.  REGIONAL DIFFERENCES IN THE EPIDEMIOLOGY OF INVASIVE PNEUMOCOCCAL DISEASE IN TODDLERS IN GERMANY , 2005, The Pediatric infectious disease journal.

[4]  A. Munnich,et al.  Deletion of the mitochondrial DNA in a case of de Toni-Debré-Fanconi syndrome and Pearson syndrome , 1994, Pediatric Nephrology.

[5]  C. Aygun,et al.  Infection-associated hemophagocytic syndrome due to Pseudomonas aeruginosa in preterm infants. , 2003, Journal of pediatric hematology/oncology.

[6]  C. Tifft,et al.  Clinical heterogeneity in mitochondrial DNA deletion disorders: a diagnostic challenge of Pearson syndrome. , 2000, American journal of medical genetics.

[7]  D. Fisman.  Hemophagocytic syndromes and infection. , 2000, Emerging infectious diseases.

[8]  J. Drapier,et al.  Intermittent hemophagocytic lymphohistiocytosis is a regular feature of lysinuric protein intolerance. , 1999, The Journal of pediatrics.

[9]  K. Hayasaka,et al.  Multiple sulphatase deficiency and haemophagocytic syndrome , 1998, European Journal of Pediatrics.

[10]  J. Henter,et al.  Infection- and malignancy-associated hemophagocytic syndromes. Secondary hemophagocytic lymphohistiocytosis. , 1998, Hematology/oncology clinics of North America.

[11]  T. Bourgeron,et al.  Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome. , 1995, Human molecular genetics.

[12]  A. Rötig,et al.  Pearson's marrow-pancreas syndrome in 2 Turkish children. , 1992, Acta haematologica.

[13]  H. Sariola,et al.  Congenital Hypoplastic Anemia, Diabetes, and Severe Renal Tubular Dysfunction Associated with a Mitochondrial DNA Deletion , 1991, Pediatric Research.

[14]  F. Ledeist,et al.  Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. , 1990, The Journal of clinical investigation.

[15]  A. Munnich,et al.  MITOCHONDRIAL DNA DELETION IN PEARSON'S MARROW/PANCREAS SYNDROME , 1989, The Lancet.

[16]  R. Stoddard,et al.  Syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction presenting in the neonate. , 1981, The Journal of pediatrics.

[17]  R. Hoffman,et al.  A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. , 1979, The Journal of pediatrics.