Abstract
A girl with exocrine pancreatic insufficiency and deletion of mitochondrial DNA (mtDNA) has been observed clinically for 7 years. When the girl was diagnosed to have deletion of mtDNA, the deletion was seen in 68% of the muscular cells and 45% of the peripheral lymphocytes. Treatment with Coenzyme Q10 and other medicines was chosen because of the similarity of a deleted portion of the mtDNA to Pearson syndrome. The treatment induced transient symptomatic improvement. However, not only have her exocrine pancreatic function and renal function gradually become worse, but achromatic pigmentary retinal dystrophy and anemia have also developed. Significant ringed sideroblasts have been observed in bone marrow cells. It has been reported that most patients with Pearson syndrome die in the early stage of the disease and that, in surviving patients, a majority of the accompanying anemia recovers spontaneously in spite of the severity of anemia. Development of sideroblastic anemia after long survival is a specific finding to this case and this finding is very important to speculate the pathogenesis of deletion of mtDNA.
