Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India.
Bangalore Child Neurology and Rehabilitation Center, No 8/A, First Cross, First Main, Near Adhichunchanagiri Choultry, Vijayanagar, Bangalore, Karnataka, 560104, India.
Indian J Pediatr. 2019 Aug;86(8):746-748. doi: 10.1007/s12098-019-02903-w. Epub 2019 Mar 2.
Mitochondrial membrane protein associated neurodegeneration (MPAN) belongs to the Neuronal brain iron accumulation (NBIA) spectrum disorder. It is caused by mutation in the C19orf12 gene. A 13-y-old previously healthy girl born to non-consanguineous marriage couple presented with regression of motor and cognitive milestones and decreased vision in both eyes, since 8 y of age. Examination revealed pyramidal signs, dystonia, dysarthria and pale optic disc. Neuroimaging showed streaking of medial medullary lamina of Globus pallidus. Genetic analysis revealed a novel p. G55 W in exon 3 of C19orf12 gene in homozygous state. Mitochondrial membrane protein associated neurodegeneration should be considered in any child presenting with neuronal brain iron accumulation spectrum disorder with findings of streaking of medial medullary lamina of Globus pallidus and absent retinitis pigmentosa.
线粒体膜蛋白相关神经退行性变（MPAN）属于神经元脑铁蓄积（NBIA）谱障碍。它是由 C19orf12 基因突变引起的。一位 13 岁的女孩，出生于非近亲结婚的家庭，自 8 岁起出现运动和认知里程碑倒退以及双眼视力下降。检查发现锥体束征、肌张力障碍、构音障碍和苍白的视盘。神经影像学显示苍白球内髓板线状条纹。基因分析显示 C19orf12 基因外显子 3 中存在一个新的 p.G55W 纯合突变。任何出现神经元脑铁蓄积谱障碍并伴有苍白球内髓板线状条纹且无视网膜色素变性的儿童，都应考虑线粒体膜蛋白相关神经退行性变。
