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The Indian Journal of Pediatrics

, Volume 86, Issue 8, pp 746–748 | Cite as

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

  • Vykuntaraju K. GowdaEmail author
  • Arundhati Patil
  • Varunvenkat M. Srinivasan
  • Nihar Kathrani
Clinical Brief
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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.

Keywords

MPAN NBIA India Globus pallidus C19orf12 gene 

Notes

Authors’ 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.

Compliance with Ethical Standards

Conflict of Interest

None.

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Copyright information

© Dr. K C Chaudhuri Foundation 2019

Authors and Affiliations

  1. 1.Department of Pediatric NeurologyIndira Gandhi Institute of Child HealthBangaloreIndia
  2. 2.Bangalore Child Neurology and Rehabilitation CenterBangaloreIndia
  3. 3.Department of NeuroradiologyNational Institute of Mental Health and Neurosciences (NIMHANS)BangaloreIndia

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