Mitochondrial neurogastrointestinal encephalomyopathy: Case report

被引：0
|
作者：
Colak, Yasar [1 ]
Tuncer, Ilyas [1 ]
Caglar, Erkan [1 ]
Barutcu, Dilek [2 ]
Ulasoglu, Celal [1 ]
Kiziltas, Safak [1 ]
机构：
[1] Istanbul Goztepe Egitim Arastirma Hastanesi, Dept Gastroenterol, Istanbul, Turkey
[2] Istanbul Goztepe Egitim Arastirma Hastanesi, Dept Internal Med, Istanbul, Turkey
来源：
TURKISH JOURNAL OF GASTROENTEROLOGY | 2010年 / 21卷 / 03期
关键词：
Mitochondrial neurogastrointestinal encephalomyopathy; intestinal pseudoobstruction; deafness; diabetes mellitus; hypothyroidism; MNGIE; MUTATION;
D O I：
10.4318/tjg.2010.0106
中图分类号：
R57 [消化系及腹部疾病];
学科分类号：
摘要：
Mitochondrial neurogastrointestinal encephalomyopathy is an autosomal recessive multisystem disorder caused by thymidine phosphorylase deficiency. The disease is characterized clinically by ptosis, progressive external ophthalmoparesis, severe gastrointestinal dysmotility, peripheral neuropathy, leukoencephalopathy, and mitochondrial abnormalities. Herein, we describe a patient with mitochondrial neurogastrointestinal encephalomyopathy who presented intestinal pseudoobstruction.
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收藏
页码：305 / 307
页数：3
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