A case of MERRF associated with chronic pancreatitis

We report the first case to our knowledge of chronic pancreatitis associate d with mitochondrial encephalopathy with the A8344G mitochondrial DNA (mtDN A) mutation. This 10-year-old-girl had suffered from recurrent abdominal pa in wit elevated serum amylase and lipase since the age of 6, and easy fatig ability, tremor and astatic seizures since the age of 8. A biopsy of quadri ceps muscle revealed ragged-red-fibers and cytochrome c oxidase deficiency. Analysis of mtDNA in peripheral blood identified an A8344G mutation in the mitochondrial tRNA(Lys) gene. Taken together with physical signs of myoclo nic seizures and cerebellar dysfunction, we diagnosed her as myoclonic epil epsy with ragged-red fibers associated with chronic pancreatitis. Although no association between mitochondrial disease and pancreatitis has yet been established, this case suggests it is necessary to consider the participati on of mitochondrial abnormality in the pathogenesis of recurrent pancreatit is. (C) 2001 Elsevier Science B.V. All rights reserved.