Gowda Vykuntaraju K, Bylappa Arun Y, Kinhal Uddhav, Srinivasan Varunvenkat M, Vamyanmane Dhananjaya K
Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru Karnataka, India.
Department of Pediatrics, Indira Gandhi Institute of Child Health, Bengaluru Karnataka, India.
Ann Indian Acad Neurol. 2023 Nov-Dec;26(6):977-979. doi: 10.4103/aian.aian_339_23. Epub 2023 Aug 11.
Mitochondrial disorders are a group of metabolic disorders with variable presentation and usually affect organs with high energy requirements like the brain, eye, and heart. Seventeen-month-old girl child presented with right hemiparesis and regression of milestones following chicken pox. Investigations showed elevated lactate, white matter signal changes in both periventricular and subcortical white matter with frontal predominance in the MRI of the brain, cardiomyopathy in the echocardiography, with complex I deficiency in respiratory enzyme assay in the muscle biopsy. A homozygous missense variant c.304C>T (p. Arg102Cys) in exon 5 of NDUFS8 gene (chr11:67800682C>T; NM_002496.4) was detected on whole exome sequencing with positive parental Sanger for the same gene. The child was started on a mitochondrial cocktail, ramipril, and frusemide. Mitochondrial complex deficiency should be considered in cases with stroke-like episodes, and predominant white matter involvement on imaging mimicking classical genetic leukodystrophy like Alexander disease.
线粒体疾病是一组临床表现多样的代谢性疾病，通常会影响对能量需求较高的器官，如大脑、眼睛和心脏。一名17个月大的女童在患水痘后出现右半身轻瘫和发育里程碑倒退。检查显示乳酸水平升高，脑部MRI显示脑室周围和皮质下白质均有白质信号改变，以额叶为主，超声心动图显示心肌病，肌肉活检的呼吸酶检测显示复合体I缺乏。全外显子测序检测到NDUFS8基因（chr11:67800682C>T；NM_002496.4）第5外显子存在纯合错义变异c.304C>T（p.Arg102Cys），其父母的该基因Sanger检测结果为阳性。该患儿开始服用线粒体复合剂、雷米普利和速尿。对于出现类似中风发作且影像学上主要为白质受累、类似经典遗传性脑白质营养不良（如亚历山大病）的病例，应考虑线粒体复合体缺乏。
