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Case ReportCase Reports and Clinical Observations

Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes—MELAS Syndrome

Caitlin Henry, Neema Patel, William Shaffer, Lillian Murphy, Joe Park and Bradley Spieler
Ochsner Journal September 2017, 17 (3) 296-301;
Caitlin Henry
1Louisiana State University Health Sciences Center, School of Medicine, New Orleans, LA
MS
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Neema Patel
2Department of Radiology, Mayo Clinic Hospital, Jacksonville, FL
MD
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William Shaffer
3Department of Radiology, Slidell Memorial Hospital, Slidell, LA
MD
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Lillian Murphy
4Department of Radiology, Louisiana State University Health Sciences Center, New Orleans, LA
MD
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Joe Park
4Department of Radiology, Louisiana State University Health Sciences Center, New Orleans, LA
MD
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Bradley Spieler
4Department of Radiology, Louisiana State University Health Sciences Center, New Orleans, LA
MD
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    Figure 1.

    Computed tomography of the head without intravenous contrast at the patient's initial presentation demonstrates hypoattenuation and swelling in the left temporal lobe (arrow), as well as mild atrophy and ventricular prominence that are greater than expected for the patient's age of 28 years.

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    Figure 2.

    Magnetic resonance imaging of the brain at the level of the cerebral peduncles at the patient's initial presentation shows the left temporal lobe (arrow) demonstrating T2-weighted fluid-attenuated inversion recovery (T2-FLAIR) hyperintense signal (A), corresponding diffusion weighted imaging signal abnormality (B), and T1 hypointense signal (C). No corresponding apparent diffusion coefficient abnormality is apparent.

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    Figure 3.

    Magnetic resonance imaging of the brain at the level of the cerebral peduncles 4 months after the patient's initial presentation shows T2-weighted fluid-attenuated inversion recovery (T2-FLAIR) (A) and diffusion weighted imaging sequences (B). The left temporal T2-FLAIR hyperintense signal has almost completely resolved (dashed arrow); however, new abnormal signal is noted at multiple parts of the right temporal lobe anteriorly and the right temporal-occipital region (solid arrow). Very little diffusion weighted imaging and no apparent diffusion coefficient abnormality are apparent.

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    Figure 4.

    Magnetic resonance spectroscopy performed at the right temporal-occipital focus 4 months after initial presentation exhibited a TE=35 ms elevated lactate peak at 1.3 ppm (circled), indicating a defect in oxidative metabolism.

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    Figure 5.

    Computed tomography of the head 5 months after the patient's initial presentation at approximately the level of the third ventricle (for comparison with Figure 1) demonstrates interval resolution of the left temporal edema/hypoattenuation (dashed arrow) with new right inferior temporal hypoattenuation (solid arrow) and slight increased prominence of the ventricles.

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    Figure 6.

    Magnetic resonance imaging of the brain 9 months after the patient's initial presentation at the level of the cerebral peduncles (for comparison with Figures 2 and 3). T2-weighted fluid-attenuated inversion recovery (T2-FLAIR) sequence demonstrates resolution of abnormal signal at the right temporal-occipital parenchyma (dashed arrow), with increased right temporal signal laterally (solid arrow) (A). The left temporal lobe is unchanged. T2-FLAIR (B) and diffusion weighted imaging (C) sequences at the level of the corpus callosum are also shown. T2-FLAIR hyperintense signal extends to the parietal lobe with restricted diffusion (solid arrow).

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Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes—MELAS Syndrome
Caitlin Henry, Neema Patel, William Shaffer, Lillian Murphy, Joe Park, Bradley Spieler
Ochsner Journal Sep 2017, 17 (3) 296-301;

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Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes—MELAS Syndrome
Caitlin Henry, Neema Patel, William Shaffer, Lillian Murphy, Joe Park, Bradley Spieler
Ochsner Journal Sep 2017, 17 (3) 296-301;
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Cited By...

  • Letter to the Editor: Diagnosing Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes (MELAS) Requires Not Only Phenotypic But Also Genotypic Verification
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Keywords

  • MELAS syndrome
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