Pearson's syndrome
Pancytopenia with exocrine pancreatic insufficiency: new mitochondrial disease in the first childhood. Pearson's syndrome is a lethal disorder of a still unknown cause, responsible for pancytopenia and exocrine pancreatic dysfunction in the first months of life. Permanent hyperlactacidemia and increased mitochondrial and cytoplasmic oxidoreduction ratios were observed in 6 unrelated children presenting with this disease. This led to study the oxidative phosphorylation in lymphocytes and thus to relate Pearson's syndrome to an enzymatic disease of the respiratory chain (NADH oxidase activity deficiency). The study of the mitochondrial genome allowed identifying major changes in mitochondrial DNA in all patients and all studied tissues. Thus, Pearson's syndrome is the first mitochondriopathy with a non neuromuscular expression reported to date.