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.
- 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.
- 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.