Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episode (MELAS)

Case contributed by Mustafa Takesh
Diagnosis almost certain

Presentation

Seizures and lactic acidosis.

Patient Data

Age: 8 years
Gender: Female
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Info

Selected images demonstrate a small area of hypoattenuation involving the cortex and subcortical white matter in the left temporal lobe.

This study is a stack
Axial
T2
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Axial
FLAIR
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Axial
DWI
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Axial
ADC
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Axial
T1
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Axial
T1 C+
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Sagittal
T1 C+
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Coronal
T1 C+
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Axial
MRA
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MIP
MRA
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MIP
MRA
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Info

Selected MRI images demonstrating confluent areas of T2/FLAIR hyperintense signal of the left temporal and occipital cortex with increased signal on DWI, corresponding to little change on ADC. In addition, moderate gyriform enhancement.

On MRA images, normal appearance of the intracranial vessels, with no signs of vasculitis.

This study is a stack
Axial
T2
This study is a stack
Axial
FLAIR
This study is a stack
Axial
T1
This study is a stack
Coronal
T2
This study is a stack
Axial
ADC
This study is a stack
Axial
DWI
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Info

Selected images demonstrating confluent areas of gliosis throughout the cerebral hemispheres in keeping with sequelae of previous ischemic insults. In addition, advanced atrophic changes with ex-vacuo dilatation of the ventricles.

Evidence of restricted diffusion at several cortical regions, in particular in the insular/perisylvian and frontal regions, in keeping with ongoing ischemic insults.

Case Discussion

Recurrent episodes of seizure, unexplained decreased level of consciousness and associated with lactic acidosis, overall suggestive of mitochondrial disease. MELAS was confirmed by genetic testing. 

MELAS is characterized by reoccurring stroke-resembling events, in non-vascular territories, which are assumed to be secondary to mitochondrial dysfunction. After several events, we noticed a rapidly progressing brain atrophy.

Our patient also had diabetic mellitus, which can be well explained by mitochondrial dysfunction.

The possibility of MELAS should be addressed in the differential diagnosis of acute strokes in young patients, especially if the pattern doesn’t follow the typical vascular territories and/or the vascular imaging is unremarkable.

With courtesy of Dr. Christine Saint-Martin, Associate Professor in Neuroradiology and Pediatric Radiology at McGill University.

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