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DOI: 10.1055/s-0035-1550149
Clinical and Neuroimaging Features in Two Children with Mutations in the Mitochondrial ND5 Gene
Publication History
29 December 2015
26 February 2015
Publication Date:
14 May 2015 (online)
![](https://www.thieme-connect.de/media/neuropediatrics/201504/lookinside/thumbnails/10-1055-s-0035-1550149_141195scsupl-1.jpg)
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.
Keywords
mitochondrial encephalmyopathy - ND5 mutation - m.13513G > A - m.13514A > G Mineralizing angiopathyEthical Approval
The ethics committee of National Institute of Mental Health and Neurosciences, Bangalore, India, approved the study protocol.
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References
- 1 Lim BC, Park JD, Hwang H , et al. Mutations in ND subunits of complex I are an important genetic cause of childhood mitochondrial encephalopathies. J Child Neurol 2009; 24 (7) 828-832
- 2 Blok MJ, Spruijt L, de Coo IF, Schoonderwoerd K, Hendrickx A, Smeets HJ. Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease. J Med Genet 2007; 44 (4) e74
- 3 Chol M, Lebon S, Bénit P , et al. The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency. J Med Genet 2003; 40 (3) 188-191
- 4 Alston CL, He L, Morris AA , et al. Maternally inherited mitochondrial DNA disease in consanguineous families. Eur J Hum Genet 2011; 19 (12) 1226-1229
- 5 Van Karnebeek CD, Waters PJ, Sargent MA , et al. Expanding the clinical phenotype of the mitochondrial m.13513G>A mutation with the first report of a fatal neonatal presentation. Dev Med Child Neurol 2011; 53 (6) 565-568
- 6 Lebre AS, Rio M, Faivre d'Arcier L , et al. A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency. J Med Genet 2011; 48 (1) 16-23
- 7 Wang Z, Qi XK, Yao S , et al. Phenotypic patterns of MELAS/LS overlap syndrome associated with m.13513G>A mutation, and neuropathological findings in one autopsy case. Neuropathology 2010; 30 (6) 606-614
- 8 Monlleo-Neila L, Toro MD, Bornstein B , et al. Leigh Syndrome and the Mitochondrial m.13513G>A Mutation: Expanding the Clinical Spectrum. J Child Neurol 2013; 28 (11) 1531-1534
- 9 Rio M, Lebre AS, de Lonlay P , et al. Mitochondrial ND5 mutations mimicking brainstem tectal glioma. Neurology 2010; 75 (1) 93
- 10 Sudo A, Honzawa S, Nonaka I, Goto Y. Leigh syndrome caused by mitochondrial DNA G13513A mutation: frequency and clinical features in Japan. J Hum Genet 2004; 49 (2) 92-96
- 11 Lebon S, Chol M, Benit P , et al. Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency. J Med Genet 2003; 40 (12) 896-899
- 12 Petruzzella V, Di Giacinto G, Scacco S , et al. Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunit. Neurology 2003; 61 (7) 1017-1018
- 13 Lingappa L, Varma RD, Siddaiahgari S, Konanki R. Mineralizing angiopathy with infantile basal ganglia stroke after minor trauma. Dev Med Child Neurol 2014; 56 (1) 78-84
- 14 Yang FH, Wang H, Zhang JM, Liang HY. Clinical features and risk factors of cerebral infarction after mild head trauma under 18 months of age. Pediatr Neurol 2013; 48 (3) 220-226
- 15 Moraitis E, Ganesan V. Childhood infections and trauma as risk factors for stroke. Curr Cardiol Rep 2014; 16 (9) 527
- 16 Finsterer J, Mahjoub SZ. Primary mitochondrial arteriopathy. Nutr Metab Cardiovasc Dis 2012; 22 (5) 393-399
- 17 Finsterer J. Leigh and Leigh-like syndrome in children and adults. Pediatr Neurol 2008; 39 (4) 223-235
- 18 Sofou K, De Coo IF, Isohanni P , et al. A multicenter study on Leigh syndrome: disease course and predictors of survival. Orphanet J Rare Dis 2014; 9: 52
- 19 Arii J, Tanabe Y. Leigh syndrome: serial MR imaging and clinical follow-up. AJNR Am J Neuroradiol 2000; 21 (8) 1502-1509
- 20 Bindu PS, Taly AB, Sonam K , et al. Bilateral hypertrophic olivary nucleus degeneration on magnetic resonance imaging in children with Leigh and Leigh-like syndrome. Br J Radiol 2014; 87 (1034) 20130478