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.

Grosso, S., Carluccio, M.A., Cardaioli, E., Cerase, A., Malandrini, A., Romano, C., et al. (2017). Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum. BRAIN & DEVELOPMENT, 39(3), 261-265 [10.1016/j.braindev.2016.09.013].

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

GROSSO, SALVATORE;CARLUCCIO, MARIA ALESSANDRA;CARDAIOLI, ELENA;MALANDRINI, ALESSANDRO;FEDERICO, ANTONIO;DOTTI, MARIA
2017-01-01

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.
Grosso, S., Carluccio, M.A., Cardaioli, E., Cerase, A., Malandrini, A., Romano, C., et al. (2017). Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum. BRAIN & DEVELOPMENT, 39(3), 261-265 [10.1016/j.braindev.2016.09.013].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11365/998587