Two new cases with Pearson syndrome and review of Hacettepe experience

Turkish Journal of Pediatrics

Volumn 50, Issue 6, 2008, Pages 572-576

  Topaloǧlu, Rezan ^a   Lebre, Anne S ^b   Demirkaya, Erkan ^a   Kuşkonmaz, Bariş ^a   Coşkun, Turgay ^a   Orhan, Diclehan ^a   Gürgey, Aytemiz ^a   Gümrük, Fatma ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

Hemophagocytosis; MtDNA deletion; Pearson marrow syndrome; Refractory anemia; Renal tubulopathy; Sideroblastic anemia

Indexed keywords

BICARBONATE; FOLIC ACID; FRESH FROZEN PLASMA; MITOCHONDRIAL DNA; PHOSPHATE; POTASSIUM; PYRIDOXINE;

AUTOPSY; BONE MARROW; BONE MARROW BIOPSY; CASE REPORT; CHILD; DEATH; DISEASE SEVERITY; ERYTHROPHAGOCYTOSIS; FANCONI ANEMIA; FEMALE; GENE DELETION; HUMAN; HUMAN TISSUE; INFANT; KIDNEY TUBULE DISORDER; LIVER DISEASE; MALE; METABOLIC ACIDOSIS; MITOCHONDRIAL MYOPATHY; MUSCLE BIOPSY; PEARSON SYNDROME; PERITONEAL DIALYSIS; PHYSICAL EXAMINATION; PRESCHOOL CHILD; REVIEW; SIDEROBLASTIC ANEMIA;

ANEMIA, SIDEROBLASTIC; BONE MARROW DISEASES; DIAGNOSIS, DIFFERENTIAL; DNA MUTATIONAL ANALYSIS; FANCONI SYNDROME; FEMALE; HUMANS; INFANT; MALE; MITOCHONDRIAL DISEASES; PANCREATIC DISEASES; SYNDROME;

EID: 62749183625     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (17)

1. Pearson HA, Lobel JS, Kocoshis SA, et al. A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction. J Pediatr 1979; 95: 976-984.
2. Stoddard RA, McCurnin DC, Shultenover SJ, et al. Syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction presenting in the neonate. J Pediatr 1981; 99: 259-261.
3. Rötig A, Collonna M, Bonnefont JP, et al Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome. Lancet 1989; 22: 902-903.
4. Rötig A, Cormier V, Blanche S, et al. Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. J Clin Invest 1990; 86: 1601-1608.
5. Niaudet P, Heidet L, Munnich A, et al. Deletion of the mitochondrial DNA in a case of de Toni-Debre Fanconi syndrome and Pearson syndrome. Pediatr Nephrol 1994; 8: 164-168.
6. Gürgey A, Rötig A, Gümrük F, et al. Pearson's marrow-pancreas syndrome in 2 Turkish children. Acta Haematol 1992; 87: 206-209.
7. Gürgey A, Ozalp I, Rotig A, et al. A case of Pearson syndrome associated with multiple renal cysts. Pediatr Nephrol 1996; 10: 637-638.
8. Rotig A, Bourgeron T, Cheretien D, et al. Spectrum of mitochondrial DNA rearrangement in the Pearson marrow-pancreas syndrome. Hum Mol Genet 1995; 4: 1327-1330.
9. Lacbawab F, Tifft CJ, Luban NL, et al. Clinical heterogeneity in mitochondrial DNA deletion disorders: a diagnostic challenge of Pearson syndrome. Am J Med Genet 2000; 95: 266-268.
10. Majander A, Suomalainen A, Vettenranta K, et al. Congenital hypoplastic anemia, diabetes, and severe renal tubular dysfunction associated with a mitochondrial DNA deletion. Pediatr Res 1991; 30: 327-330.
11. Janka GE. Familial and acquired hemophagocytic lymphohistiocytosis. Eur J Pediatr 2007; 166: 95-109.
12. Janka G, Jmashuku S, Flinder G, et al. Infection and malignancy associated hemophagocytic syndromes. Hematol Oncol Clin North Am 1998; 12: 435-444.
13. Aygun C, Tekinalp G, Gurgey A Infection associated hemophagocytic syndrome due to Pseudomonas aeruginosa in preterm infants. J Pediatr Hematol Oncol 2003; 25: 665-667.
14. Gurgey A, Secmeer G, Tavil B, et al. Secondary hemophagocytic lymphohistiocytosis in Turkish children. Pediatr Infect Dis J 2005; 24: 1116-1117.
15. Duval M, Fenneteau O, Doireau V, et al. Intermittent hemophagocytic lymphohistiocytosis is a regular feature of lysinuric protein intolerance. J Pediatr 1999; 134: 236-239.
16. Ikeda H, Kato M, Matsunaga A, et al. Multiple sulphatase deficiency and haemophagocytic syndrome. Eur J Pediatr 1998; 157: 553-554.
17. Fisman DN. Hemophagocytic syndromes and infection. Emerg Infect Dis 2000; 6: 601-608.