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

Case contributed by Dr Oyedepo Victor Olufemi

Presentation

History of repeated seizures, persistent headaches, loss of consciousness and transient visual loss.

Patient Data

Age: 15 Years
Gender: Female

Widespread confluent bilateral areas of T2/FLAIR hyperintensities seen in the cortical, subcortical and deep white matter not conforming to any arterial territory. These areas show no evidence of restricted diffusion on DWI/ADC, isointense signal to white matter on T1W without enhancement on T1+C. No evidence of hemorrhage on GRE.

 Based on presenting symptoms and demographics, an assessment of  Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) was made.

Case Discussion

Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a rare inherited disorder that results in nervous system and muscle dysfunction and has distinct imaging findings.

This patient presents with history of seizures, loss of consciousness and loss of vision which she regained after some time (stroke-like symptoms) depicting neurological and muscular dysfunction.

The findings of confluent areas of ischemia not conforming to any vascular pattern as seen in this patient are typical in MELAS. Of note is the fact that the ischemic changes are not only seen in the parietal and occipital lobes, but also in the frontal lobes of both cerebral hemispheres.

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Case information

rID: 70957
Published: 12th Sep 2019
Last edited: 16th Sep 2019
Inclusion in quiz mode: Included
Institution: Clinix Healthcare

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