Pearson syndrome

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.

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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.