Investigative Magnetic Resonance Imaging

Korean Society of Magnetic Resonance in Medicine (대한자기공명의과학회)
권호 표지
DOI QR코드

DOI QR Code

Atypical Radiologic Manifestation of NARP Mimicking MELAS: a Case Report

  • Received : 2018.04.06
  • Accepted : 2018.05.28
  • Published : 2018.06.30
Download PDF
⟨ Previous Next ⟩

Abstract

Neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome is a rare maternally inherited mitochondrial disorder. Radiologic findings in NARP syndrome are varied; they include cerebral and cerebellar atrophy, basal ganglia abnormalities, and on rare occasions, leukoencephalopathy. This article describes an extremely rare case of NARP syndrome mimicking mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS).

Keywords

References

  1. Holt IJ, Harding AE, Petty RK, Morgan-Hughes JA. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am J Hum Genet 1990;46:428-433
  2. Thorburn DR, Rahman S. Mitochondrial DNA-associated Leigh syndrome and NARP. In Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, eds. $GeneReviews^{TM}$[Internet]. University of Washington, Seattle, 1993-2013; (last update: September 28, 2017). http://www.ncbi.nlm.nih.gov/books/NBK1173/. Accessed June 13, 2018
  3. Gelfand JM, Duncan JL, Racine CA, et al. Heterogeneous patterns of tissue injury in NARP syndrome. J Neurol 2011;258:440-448 https://doi.org/10.1007/s00415-010-5775-1
  4. Uziel G, Moroni I, Lamantea E, et al. Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families. J Neurol Neurosurg Psychiatry 1997;63:16- 22 https://doi.org/10.1136/jnnp.63.1.16
  5. Rojo A, Campos Y, Sanchez JM, et al. NARP-MILS syndrome caused by 8993 T>G mitochondrial DNA mutation: a clinical, genetic and neuropathological study. Acta Neuropathol 2006;111:610-616 https://doi.org/10.1007/s00401-006-0040-5
  6. Renard D, Labauge P. Posterior leukoencephalopathy in NARP syndrome. Acta Neurol Belg 2012;112:417-418 https://doi.org/10.1007/s13760-012-0081-6
  7. Scaglia F, Wong LJ, Vladutiu GD, Hunter JV. Predominant cerebellar volume loss as a neuroradiologic feature of pediatric respiratory chain defects. AJNR Am J Neuroradiol 2005;26:1675-1680
  8. Arbelaez A, Castillo M, Mukherji SK. Diffusion-weighted MR imaging of global cerebral anoxia. AJNR Am J Neuroradiol 1999;20:999-1007