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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