Coşkun Ezgi, Ulusal Gülay, Bulut Nilüfer, Bektaş Hesna, Oztekin M Fevzi, Yildirim I Safa
Department of Internal Medicine, Ankara Dişkapi Educational and Research Hospital, Ankara, Turkey.
Turk J Gastroenterol. 2005 Sep;16(3):163-6.
Mitochondrial neurogastrointestinal encephalomyopathy is an autosomal recessive disease characterized by progressive ophthalmoplegia, peripheral neuropathy, mitochondrial abnormalities and gastrointestinal involvement. We describe a 19-year-old male having chronic intestinal pseudoobstruction associated with ophthalmoplegia and proximal muscle weakness. The clinical and radiologic features suggested the diagnosis of mitochondrial neurogastrointestinal encephalomyopathy. Mitochondrial genetic defects should be considered in the differential diagnosis of unexplained chronic gastrointestinal symptoms accompanied by neurological findings, especially in families where there is more than one individual with the same kind of symptoms.
线粒体神经胃肠性脑肌病是一种常染色体隐性疾病，其特征为进行性眼肌麻痹、周围神经病变、线粒体异常以及胃肠道受累。我们描述了一名19岁男性，患有慢性肠假性梗阻，并伴有眼肌麻痹和近端肌无力。临床和影像学特征提示线粒体神经胃肠性脑肌病的诊断。在伴有神经学表现的不明原因慢性胃肠道症状的鉴别诊断中，应考虑线粒体基因缺陷，尤其是在有不止一名个体出现相同症状的家庭中。
