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Case Reports
. 2014 Jan 28:2014:bcr2013201640.
doi: 10.1136/bcr-2013-201640.

MELAS, an important consideration in the adult population presenting with unusual and recurrent stroke-like episodes

Alison Corr  1 , Maria Gaughan, Joan Moroney, Seamus Looby
Affiliations
Case Reports

MELAS, an important consideration in the adult population presenting with unusual and recurrent stroke-like episodes

Alison Corr et al. BMJ Case Rep. .

Abstract

A 48-year-old man was admitted for workup of stroke-like symptoms and generalised tonic-clonic seizures. History and examination revealed that the patient had background diagnoses of type 2 diabetes mellitus, epilepsy and had suffered a temporal lobe infarct 3 years ago. The unusual presentation and physical findings, along with subsequent MRI findings led to a diagnosis of mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). MELAS is a mitochondrial disorder typified by the aforementioned symptoms, and is typically diagnosed in the first two decades of life.

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Figures

Figure 1
Figure 1
Standard non-contrast CT of the brain showing bilateral basal ganglia calcifications and global cerebral and cerebellar parenchymal volume loss.
Figure 2
Figure 2
T2, fluid attenuation inversion recovery and diffusion-weighted MRI of the brain showing bilateral cortical-based signal abnormality with associated oedema, with corresponding diffusion hyperintensity. ADC map reveals subtle correlating cortical low signal, in keeping with diffusion restriction within some of the lesions.
Figure 3
Figure 3
Further bilateral insular cortex T2, fluid attenuation inversion recovery and diffusion hyperintensities with subtle corresponding cortical ADC low signal.
Figure 4
Figure 4
T2, fluid attenuation inversion recovery and diffusion-weighted MRI sequences showing concomitant right inferior cerebellar hemisphere signal abnormality with corresponding diffusion hyperintensity.
Figure 5
Figure 5
MR spectroscopy showing a lactate doublet peak (white), a relative reduction in N-acetylaspartate when voxel sampling was performed over the foci of cortical abnormality.
Figure 6
Figure 6
Muscle biopsy staining showing the presence of ragged red fibres, pathognomonic of mitochondrial myopathy.
See this image and copyright information in PMC

References

    1. El-Hattaba A, Emrickb L, Craigenb W, et al. Citrulline and arginine utility in treating nitric oxide deficiency in mitochondrial disorders. Mol Genet Metab 2012;107:247–52 - PubMed
    1. Scaglia F, Northrop JL. The mitochondrial myopathy encephalopathy, lactic acidosis with stroke-like episodes (MELAS) syndrome: a review of treatment options. CNS Drugs 2006;20:443–64 - PubMed
    1. Montagna P, Gallassi R, Medori R, et al. MELAS syndrome: characteristic migrainous and epileptic features and maternal transmission. Neurology 1988;38:751–4 - PubMed
    1. Pavlakis SG, Phillips PC, DiMauro S, et al. Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome. Ann Neurol 1984;16:481–8 - PubMed
    1. Lizuka T, Sakai F, Suzuki N, et al. Neuronal hyperexcitability in stroke-like episodes of MELAS syndrome. Neurology 2002;59:816–24 - PubMed

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