title: Clinical and Neuroimaging Features in Two Children with Mutations in the Mitochondrial ND5 Gene.
abstract: Mutations in the mitochondrial-encoded nicotinamide adenine dinucleotide dehydrogenase 5 gene (MT-ND5) has been implicated as an important genetic cause of childhood mitochondrial encephalomyopathies. This study reports the clinical and magnetic resonance imaging findings in two pediatric patients with mutations in the ND5 gene of mitochondrial DNA. The 8-month-old boy with m.13513 G>A mutation presented with infantile basal ganglia stroke syndrome secondary to mineralizing angiopathy. The 7-year-old girl with the m.13514A>G mutation had episodic regression, progressive ataxia, optic atrophy, and hyperactivity. Magnetic resonance imaging of the brain showed bilateral symmetrical signal intensity changes in the thalamus, tectal plate, and inferior olivary nucleus, which subsided on follow-up image. Both the patients had a stable course. Familiarity with the various phenotypic and magnetic resonance imaging findings and the clinical course in childhood mitochondrial encephalomyopathies may help the physician in targeted metabolic-genetic testing and prognostication.
authors.affiliation: Department of Clinical Neurosciences, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, Karnataka, India.
authors.forename: Kothari
authors.initials: K
authors.lastname: Sonam
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, Karnataka, India.
authors.forename: P S
authors.initials: PS
authors.lastname: Bindu
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, Karnataka, India.
authors.forename: Arun B
authors.initials: AB
authors.lastname: Taly
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, Karnataka, India.
authors.forename: Chikkanna
authors.initials: C
authors.lastname: Govindaraju
authors.affiliation: Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, Karnataka, India.
authors.forename: Narayanappa
authors.initials: N
authors.lastname: Gayathri
authors.affiliation: Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, Karnataka, India.
authors.forename: Hanumanthapura R
authors.initials: HR
authors.lastname: Arvinda
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, Karnataka, India.
authors.forename: Madhu
authors.initials: M
authors.lastname: Nagappa
authors.affiliation: Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, Karnataka, India.
authors.forename: Sanjib
authors.initials: S
authors.lastname: Sinha
authors.affiliation: Centre for Scientific and Industrial Research, Centre for Cellular and Molecular Biology (CSIR-CCMB), Hyderabad, Andhra Pradesh, India.
authors.forename: Nahid Akthar
authors.initials: NA
authors.lastname: Khan
authors.affiliation: Centre for Scientific and Industrial Research, Centre for Cellular and Molecular Biology (CSIR-CCMB), Hyderabad, Andhra Pradesh, India.
authors.forename: Periyasamy
authors.initials: P
authors.lastname: Govindaraj
authors.affiliation: Centre for Scientific and Industrial Research, Centre for Cellular and Molecular Biology (CSIR-CCMB), Hyderabad, Andhra Pradesh, India.
authors.forename: Kumarasamy
authors.initials: K
authors.lastname: Thangaraj
mesh_terms: D002648:Child; D042967:Electron Transport Complex I / Q000235:genetics*; D005260:Female; D050259:Genes, Mitochondrial; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation; D059906:Neuroimaging; D010375:Pedigree
chemical_list: D024101:Mitochondrial Proteins; C481838:MT-ND5 protein, human; D042967:Electron Transport Complex I