Pearson syndrome

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Pearson syndrome
OMIM 557000
DiseasesDB 32159
eMedicine ped/1750 

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]


Pearson syndrome is a mitochondrial disease characterized by sideroblastic anemia and exocrine pancreas dysfunction. It is usually fatal in infancy. The few patients who survive into adulthood often develop symptoms of Kearns-Sayre syndrome. It is caused by a deletion in mitochondrial DNA. Pearson syndrome is very rare, less than hundred cases have been reported in medical literature worldwide.

The syndrome was first described by Pearson in 1979,[1] the deletions causing it were discovered a decade later.[2]

References

  1. Pearson HA, Lobel JS, Kocoshis SA; et al. (1979). "A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction". J. Pediatr. 95 (6): 976–84. PMID 501502. 
  2. Rotig A, Colonna M, Bonnefont JP; et al. (1989). "Mitochondrial DNA deletion in Pearson's marrow/pancreas syndrome". Lancet. 1 (8643): 902–3. PMID 2564980. 

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