Department of Neurology, Kyoto University, Graduate School of Medicine, 54 Shogoin-Kawahara-cho, Sakyo-ku, Kyoto 606-8507, Japan.
Department of Neurology, National Hospital Organization Kyoto Medical Center, 1-1 Mukaihata-cho, Fukakusa, Fushimi-ku, Kyoto 612-8555, Japan.
J Clin Neurosci. 2019 Mar;61:302-304. doi: 10.1016/j.jocn.2018.10.054. Epub 2018 Oct 29.
Diseases due to mutations of polymerase γ (POLG) usually present with progressive external ophthalmoplegia. However, a few studies have been reported on POLG1 mutations with the mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype. All cases with POLG1 mutations mimicking MNGIE have never shown leukoencephalopathy on brain magnetic resonance imaging (MRI) or demyelinating polyneuropathy. We present a 26-year-old male with gait disturbance, recurrent bowel obstruction, peripheral neuropathy, ophthalmoplegia or ptosis, which represented MNGIE phenotype. Though he displayed demyelinating peripheral neuropathy or leukoencephalopathy on brain MRI, genetic analysis revealed heterozygous mutation in POLG1 gene. We report for the first time two newly characteristics in our patient with heterozygous POLG1 mutations with the MNGIE-like phenotype: leukoencephalopathy and demyelinating polyneuropathy.
由于聚合酶 γ (POLG) 突变引起的疾病通常表现为进行性眼外肌麻痹。然而，已有少数研究报道了具有线粒体神经胃肠脑肌病 (MNGIE) 样表型的 POLG1 突变。所有具有 MNGIE 样表型的 POLG1 突变的病例在脑磁共振成像 (MRI) 上从未显示出脑白质病或脱髓鞘性多发性神经病。我们报告了一例 26 岁男性，表现为步态障碍、复发性肠梗阻、周围神经病、眼外肌麻痹或上睑下垂，表现为 MNGIE 表型。尽管他的大脑 MRI 显示脱髓鞘性周围神经病或脑白质病，但基因分析显示 POLG1 基因存在杂合突变。我们首次报道了一例具有 MNGIE 样表型的杂合 POLG1 突变患者的两个新特征：脑白质病和脱髓鞘性多发性神经病。
