Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum

• Published in: Brain & development (Tokyo. 1979) Vol. 39; no. 3; pp. 261 - 265
• Main Authors: Grosso, Salvatore, Carluccio, Maria Alessandra, Cardaioli, Elena, Cerase, Alfonso, Malandrini, Alessandro, Romano, Chiara, Federico, Antonio, Dotti, Maria Teresa
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 01.03.2017
• Subjects: Child; DNA, Mitochondrial - genetics; Electron Transport Complex I - deficiency; Electron Transport Complex I - genetics; Electron Transport Complex I - metabolism; Epilepsia partialis continua; Humans; Leigh Disease - complications; Leigh Disease - diagnosis; Leigh Disease - genetics; Leigh syndrome; Magnetic Resonance Imaging - methods; Male; MELAS; MELAS Syndrome - complications; MELAS Syndrome - diagnosis; MELAS Syndrome - genetics; Mitochondrial disorder; Mutation - genetics; Neurology; Leigh syndrome; MELAS; Epilepsia partialis continua; Mitochondrial disorder
• ISSN: 0387-7604; 1872-7131
• DOI: 10.1016/j.braindev.2016.09.013

Abstract Background 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. Case presentation We report a 9 year-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. Discussion 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.