Atypical Radiologic Manifestation of NARP Mimicking MELAS: a Case Report
2
조회
0
다운로드
0
인용
0
참고문헌
키워드
초록
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).
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).
참고문헌 (8)
- Holt IJ, "A new mitochondrial disease associated with mitochondrial DNA heteroplasmy", Am J Hum Genet, 46, pp.428~433 (1990)
- "Mitochondrial DNA-associated Leigh syndrome and NARP" (2017)[URL]
- Gelfand JM, "Heterogeneous patterns of tissue injury in NARP syndrome", J Neurol, 258, pp.440~448 (2011)[DOI]
- Uziel G, "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, 63, pp.16~22 (1997)[DOI]
- Rojo A, "NARP-MILS syndrome caused by 8993 T>G mitochondrial DNA mutation: a clinical, genetic and neuropathological study", Acta Neuropathol, 111, pp.610~616 (2006)[DOI]
- Renard D, "Posterior leukoencephalopathy in NARP syndrome", Acta Neurol Belg, 112, pp.417~418 (2012)[DOI]
- Scaglia F, "Predominant cerebellar volume loss as a neuroradiologic feature of pediatric respiratory chain defects", AJNR Am J Neuroradiol, 26, pp.1675~1680 (2005)
- Arbelaez A, "Diffusion-weighted MR imaging of global cerebral anoxia", AJNR Am J Neuroradiol, 20, pp.999~1007 (1999)