Investig Magn Reson Imaging.  2018 Jun;22(2):119-122. 10.13104/imri.2018.22.2.119.

Atypical Radiologic Manifestation of NARP Mimicking MELAS: a Case Report

• Lee Y
• Lee D
• Hwang H

• KMID: 2415891
• DOI: http://doi.org/10.13104/imri.2018.22.2.119

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).

Keyword

Neurogenic weakness, ataxia, and retinitis pigmentosa syndrome; NARP; Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes; MELAS; Magnetic resonance imaging

MeSH Terms

Ataxia
Atrophy
Basal Ganglia
Leukoencephalopathies
Magnetic Resonance Imaging
MELAS Syndrome*
Mitochondrial Diseases
Retinitis Pigmentosa

Figure

• 

  Fig. 1 (a) Low densities in both parietal and occipital lobes on a CT. (b, c) Diffusion restriction of both parietal, occipital, and posterior temporal lobes, mainly cortex and subcortical white matter. But, both basal ganglia and thalamus were not affected.

• 

  Fig. 2 (a, b) FLAIR axial and coronal scan showed diffuse hyperintensity in both frontal, parietal, temporal, and occipital lobes. Those lesions were increased to an extent when compared to previous diffusion weighted images. They also spared both the basal ganglia and thalamus. (c) T2-weighted image axial scan showed diffuse atrophied cerebellum. (d) Gd-enhanced T1-weighted image scan showed diffuse gyral enhancement in both cerebral hemispheres, more prominent in the newly developed lesions (both fronto-parietal lobes).

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