title: Complex I deficiency related to T10158C mutation ND3 gene: A further definition of the clinical spectrum.
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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Clinical Pediatrics - Pediatric Neurology Section - Department of Molecular Medicine and Development - University of Siena, Italy. Electronic address: salvatore.grosso@unisi.it.
authors.forename: Salvatore
authors.initials: S
authors.lastname: Grosso
authors.affiliation: Department of Neurological, Neurosurgical and Behavioral Sciences, University of Siena, Italy.
authors.forename: Maria Alessandra
authors.initials: MA
authors.lastname: Carluccio
authors.affiliation: Department of Neurological, Neurosurgical and Behavioral Sciences, University of Siena, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: Cardaioli
authors.affiliation: Unit NINT Neuroimaging and Neurointervention, Department of Neurological and Sensorial Sciences, University of Siena, Italy.
authors.forename: Alfonso
authors.initials: A
authors.lastname: Cerase
authors.affiliation: Department of Neurological, Neurosurgical and Behavioral Sciences, University of Siena, Italy.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Malandrini
authors.affiliation: Clinical Pediatrics - Pediatric Neurology Section - Department of Molecular Medicine and Development - University of Siena, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Romano
authors.affiliation: Department of Neurological, Neurosurgical and Behavioral Sciences, University of Siena, Italy.
authors.forename: Antonio
authors.initials: A
authors.lastname: Federico
authors.affiliation: Department of Neurological, Neurosurgical and Behavioral Sciences, University of Siena, Italy.
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Dotti
mesh_terms: D002648:Child; D004272:DNA, Mitochondrial / Q000235:genetics; D042967:Electron Transport Complex I / Q000172:deficiency / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D007888:Leigh Disease / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D017241:MELAS Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging / Q000379:methods; D008297:Male; D009154:Mutation / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D042967:Electron Transport Complex I; C114961:MT-ND3 protein, human
keywords: Epilepsia partialis continua; Leigh syndrome; MELAS; Mitochondrial disorder