A case of MERRF associated with chronic pancreatitis.
We report the first case to our knowledge of chronic pancreatitis associated with mitochondrial encephalopathy with the A8344G mitochondrial DNA (mtDNA) mutation. This 10-year-old-girl had suffered from recurrent abdominal pain with elevated serum amylase and lipase since the age of 6, and easy fatigability, tremor and astatic seizures since the age of 8. A biopsy of quadriceps 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 myoclonic seizures and cerebellar dysfunction, we diagnosed her as myoclonic epilepsy 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 participation of mitochondrial abnormality in the pathogenesis of recurrent pancreatitis.
Toyono
M
M
Department of Pediatrics, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku, 162-8666, Tokyo, Japan.
Nakano
K
K
Kiuchi
M
M
Imai
K
K
Suzuki
H
H
Shishikura
K
K
Osawa
M
M
Shiratori
K
K
Goto
Y
Y
Nonaka
I
I
Sugie
H
H
D001921:Brain / Q000473:pathology / Q000503:physiopathology; D002648:Child; D002908:Chronic Disease; D005260:Female; D006801:Humans; D017243:MERRF Syndrome / Q000150:complications* / Q000235:genetics / Q000473:pathology; D008279:Magnetic Resonance Imaging; D010179:Pancreas / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology; D010195:Pancreatitis / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome; D014815:Vitamins / Q000627:therapeutic use
D014815:Vitamins