Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Pearson syndrome
Introduction
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
References
- ↑ 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.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]