Adult-onset Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes (MELAS) Syndrome with Progressive Sensorineural Hearing Loss: A Case Report

Overview

Journal Radiol Case Rep

Publisher Elsevier

Specialty Radiology

Date 2021 Jun 7

PMID 34093932

Citations 3

Authors

T M Trang

P C Chien

B T Dung

N T H Thu

N T T Truc

V N C Khang

Affiliations

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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.

Citing Articles

Adult-onset mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS): a diagnostic challenge.

Acquaah J, Ferdinand P, Roffe C BMJ Case Rep. 2024; 17(2).

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Reply to letter to the editor.

T M T, N T T T, P C C Radiol Case Rep. 2021; 16(12):4001-4002.

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Suspect MELAS early to prevent unnecessary costs and burdens for the affected.

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