Mitochondrial Neurogastrointestinal Encephalomyopathy

被引：0

作者：

Borhani-Haghighi, Afshin ^{[1
,2
]}

Nabavizadeh, Ali ^{[3
]}

Sass, Joern Oliver ^{[6
]}

Safari, Anahid ^{[4
]}

Lankarani, Kamran B. ^{[5
]}

机构：

[1] Nemazee Hosp, Dept Neurol, Shiraz, Iran

[2] Nemazee Hosp, Comparat Med Res Ctr, Shiraz, Iran

[3] Shiraz Univ Med Sci, Dept Radiol, Shiraz, Iran

[4] Shiraz Univ Med Sci, Med Student Skill Lab, Shiraz, Iran

[5] Shiraz Univ Med Sci, Gastrohepatol Res Ctr, Shiraz, Iran

[6] Univ Freiburg Klinikum, Zentrum Kinderheilkunde & Jugendmed, Freiburg, Germany

来源：

ARCHIVES OF IRANIAN MEDICINE | 2009年 / 12卷 / 06期

关键词：

Mitochondrial diseases; mitochondrial encephalomyopathies; MNGIE; DISORDER; MUTATIONS;

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Mitochondrial neurogastrointestinal encephalomyopathy is an autosomal recessive disorder in which a nuclear mutation of the thymidine phosphorylase gene leads to mitochondrial genomic dysfunction. Herein, we report a 29-year-old Iranian man with abdominal pain, diarrhea, hearing loss, ophthalmoplegia, sensorimotor axonal neuropathy, and elevated muscle enzymes. Magnetic resonance imaging showed leukoencephalopathic changes. Metabolite analysis revealed a very high thymidine concentration in the patient's urine consistent with the diagnosis of mitochondrial neurogastrointestinal encephalomyopathy.

引用

页码：588 / 590

页数：3

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