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Mitochondrial Membrane Protein Associated Neurodegeneration   (MPAN) with a Novel C19orf12 Mutation in the First Decade of Life

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Abstract

Mitochondrial membrane protein associated neurodegeneration (MPAN) belongs to the Neuronal brain iron accumulation (NBIA) spectrum disorder. It is caused by mutation in the C19orf12 gene. A 13-y-old previously healthy girl born to non-consanguineous marriage couple presented with regression of motor and cognitive milestones and decreased vision in both eyes, since 8 y of age. Examination revealed pyramidal signs, dystonia, dysarthria and pale optic disc. Neuroimaging showed streaking of medial medullary lamina of Globus pallidus. Genetic analysis revealed a novel p. G55 W in exon 3 of C19orf12 gene in homozygous state. Mitochondrial membrane protein associated neurodegeneration should be considered in any child presenting with neuronal brain iron accumulation spectrum disorder with findings of streaking of medial medullary lamina of Globus pallidus and absent retinitis pigmentosa.

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Authors and Affiliations

  1. Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, Karnataka, India

    Vykuntaraju K. Gowda, Arundhati Patil & Varunvenkat M. Srinivasan

  2. Bangalore Child Neurology and Rehabilitation Center, No 8/A, First Cross, First Main, Near Adhichunchanagiri Choultry, Vijayanagar, Bangalore, Karnataka, 560104, India

    Vykuntaraju K. Gowda

  3. Department of Neuroradiology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, Karnataka, India

    Nihar Kathrani

Authors
  1. Vykuntaraju K. Gowda
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  2. Arundhati Patil
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  3. Varunvenkat M. Srinivasan
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  4. Nihar Kathrani
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Contributions

VKG: Revised and approved the manuscript for important intellectual content and guarantor of the paper; AP: Diagnosis, management and writing the manuscript; VMS: Conducted laboratory tests and analyzed the data; NK: Conducted laboratory tests and revision of manuscript.

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Correspondence to Vykuntaraju K. Gowda.

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Gowda, V.K., Patil, A., Srinivasan, V.M. et al. Mitochondrial Membrane Protein Associated Neurodegeneration   (MPAN) with a Novel C19orf12 Mutation in the First Decade of Life. Indian J Pediatr 86, 746–748 (2019). https://doi.org/10.1007/s12098-019-02903-w

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  • DOI: https://doi.org/10.1007/s12098-019-02903-w

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