A case of MERRF associated with chronic pancreatitis

被引：25

作者：

Toyono, M

Nakano, K

Kiuchi, M

Imai, K

Suzuki, H

Shishikura, K

Osawa, M

Shiratori, K

Goto, Y

Nonaka, I

Sugie, H

机构：

[1] Tokyo Womens Med Univ, Dept Pediat, Tokyo 1628666, Japan

[2] Tokyo Womens Med Univ, Dept Internal Med & Gastroenterol, Tokyo 1628666, Japan

[3] NCNP, Natl Inst Neurosci, Dept Mental Retardat & Birth Defects Res, Tokyo, Japan

[4] NCNP, Natl Inst Neurosci, Dept Ultrastruct Res, Tokyo, Japan

[5] Hamamatsu City Med Ctr Dev Med, Dept Pediat Neurol, Hamamatsu, Shizuoka, Japan

来源：

NEUROMUSCULAR DISORDERS | 2001年 / 11卷 / 03期

关键词：

myoclonic epilepsy with ragged-red fibers; chronic pancreatitis; point mutation; A8344G;

D O I：

10.1016/S0960-8966(00)00176-0

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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 wit 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. (C) 2001 Elsevier Science B.V. All rights reserved.

引用

页码：300 / 304

页数：5

共 23 条

[1] ENERGY SOURCES FROM PROTEIN SYNTHESIS AND ENZYMATIC SECRETION IN RAT PANCREAS IN VITRO [J].