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Case Reports
. 2021 May 24;16(7):1865-1869.
doi: 10.1016/j.radcr.2021.04.049. eCollection 2021 Jul.

Adult-onset mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome with progressive sensorineural hearing loss: A case report

T M Trang  1 , P C Chien  2 , B T Dung  1 , N T H Thu  1 , N T T Truc  3 , V N C Khang  1
Affiliations
Case Reports

Adult-onset mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome with progressive sensorineural hearing loss: A case report

T M Trang et al. Radiol Case Rep. .

Erratum in

Abstract

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the most common maternally inherited mitochondrial disorders, with no specific treatment available. We report a case of a 34-year-old female in whom symptoms of MELAS were initially misdiagnosed as herpes simplex encephalitis (HSE). Her clinical course was marked by an acute episode of consciousness disturbance with newly developed lesions on brain MRI five years after disease onset and followed by progressive sensorineural hearing loss. Brain imaging sequences throughout the seven years of her illness are presented. The final diagnosis of MELAS syndrome was confirmed by m.3243A>G mitochondrial mutation. In conclusion, understanding the overlapping imaging features between MELAS syndrome and other mimickers, such as HSE or ischemic stroke, is crucial to help establish early diagnosis and initiate appropriate treatment.

Keywords: Herpes Simplex Encephalopathy; MELAS; Magnetic Resonance Imaging; Mitochondrial Encephalomyopathy.

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Figures

Fig 1
Fig. 1
Brain CT scan on first admission. Arrows indicate hyperintense signal involving bilateral basal ganglia, likely calcification.
Fig. 2
Fig. 2
Brain MRI findings. Fluid-attenuated inversion recovery (FLAIR), diffusion weighted imaging (DWI), and apparent diffusion coefficient (ADC) images at three presentations. FLAIR images demonstrate hyperintense edema in the left and then right temporal and occipital lobes. These do not correspond to any vascular territory and appear as local mass effect (arrowheads, 2018) and subsequently old lesions with partial encephalomalacia (green arrow, 2020). DWI shows hyperintense cortical areas of restricted diffusion that are hypointense on ADC (yellow arrow), and subcortical vasogenic edema that is hyperintense on ADC (red arrows). (Color version of figure is available online)
Fig. 3
Fig. 3
Cerebellar atrophy, a common neurological manifestation in mitochondrial disorders. Axial and coronal T1 and T2 images show signs of cerebellar atrophy: reduction in cerebellar volume, enlargement of the fourth ventricle (yellow arrow) and sulci and cisterna magna (red arrows). (Color version of figure is available online)
Fig. 4
Fig. 4
Analysis of mitochondrial genome. Direct sequencing of MT-TL1 gene from peripheral blood revealed point mutation m.3242A>G.
See this image and copyright information in PMC

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