Pearson syndrome

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]