Grosso Salvatore, Carluccio Maria Alessandra, Cardaioli Elena, Cerase Alfonso, Malandrini Alessandro, Romano Chiara, Federico Antonio, Dotti Maria Teresa
Clinical Pediatrics - Pediatric Neurology Section - Department of Molecular Medicine and Development - University of Siena, Italy.
Department of Neurological, Neurosurgical and Behavioral Sciences, University of Siena, Italy.
Brain Dev. 2017 Mar;39(3):261-265. doi: 10.1016/j.braindev.2016.09.013. Epub 2016 Oct 11.
Complex I deficiency is the most common energy generation disorder which may clinically present at any age with a wide spectrum of symptoms and signs. The T10158C mutation ND3 gene is rare and occurs in patients showing an early rapid neurological deterioration invariably leading to death after a few months.
We report a 9year-old boy with a mtDNA T10158C mutation showing a mild MELAS-like phenotype and brain MRI features congruent with both MELAS and Leigh syndrome. Epilepsia partialis continua also occurred in the clinical course and related to a mild cortical atrophy of the left perisylvian area.
The present case confirms that the clinical spectrum of Complex I deficiency related to T10158C mutation ND3 gene is wider than previously described. Our observation further suggests that testing mutation in the MT-ND3 gene should be included in the diagnostic work-up of patients presenting with epilepsia partialis continua accompanied by suspicion of mitochondrial disorder.
复合体I缺陷是最常见的能量生成障碍，可在任何年龄临床发病，症状和体征范围广泛。T10158C突变的ND3基因罕见，见于早期迅速出现神经功能恶化且数月后 invariably 死亡的患者。
我们报告一名9岁男孩，患有线粒体DNA T10158C突变，表现出轻度的类MELAS表型，脑MRI特征与MELAS和Leigh综合征相符。临床过程中还出现了持续性部分性癫痫，与左侧外侧裂周围区域轻度皮质萎缩有关。
本病例证实，与T10158C突变ND3基因相关的复合体I缺陷的临床谱比先前描述的更广泛。我们的观察进一步表明，对于出现持续性部分性癫痫且怀疑有线粒体疾病的患者，诊断检查应包括检测MT-ND3基因中的突变。
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