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  • Title: Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum.
    Author: Grosso S, Carluccio MA, Cardaioli E, Cerase A, Malandrini A, Romano C, Federico A, Dotti MT.
    Journal: Brain Dev; 2017 Mar; 39(3):261-265. PubMed ID: 27742419.
    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 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. 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.
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