Pearson syndrome
From Wikipedia, the free encyclopedia
| Pearson syndrome Classification and external resources |
|
| OMIM | 557000 |
|---|---|
| DiseasesDB | 32159 |
| eMedicine | ped/1750 |
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]
[edit] 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.
[edit] External links
|
||||||||
 |
This disease article is a stub. You can help Wikipedia by expanding it. |
