Abstract Details

Title A Rare Case of Adult Onset Mitochondrial Encephalomyopathy, Lactic Acidosis and Stroke-like Episodes at Age 60

Topic Cerebrovascular Disease and Interventional Neurology

Presentation(s) P3 - Poster Session 3 (5:30 PM-6:30 PM)

Poster/Presentation
Number 13-007

Background

Patient without pertinent family history or previous symptoms initially presented with minimal intermittent word finding difficulties for two months followed by acute onset of significant expressive and comprehensive aphasia. MRI brain showed temporal lesions with restricted diffusion in a gyral pattern, which is atypical for stroke. Additional workup negative, including lumbar puncture. Telemetry revealed Atrial fibrillation. Patient discharged on Eliquis and Depakote given concerns of epileptogenicity of temporal lobe lesions. Patient’s clinical course declined with worsening of gait, inability to follow more complex commands and homicidal ideations. Repeat outpatient MRI brain showed progressive frontotemporal DWI and FLAIR changes concerning for autoimmune encephalitis, vasculitis or low-grade glioma. On readmission, exam significant for global aphasia and transient right arm weakness.

Objective

Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a disease more commonly seen in pediatric populations, rarely with adult onset. This case reports MELAS in a 60-year-old female with progressive aphasia and encephalopathy after abnormal MRI raised concerns for alternative diagnosis with goals of adding to the current limited database of adult onset MELAS.

Design/Methods NA

Results Given transient symptoms, patient monitored on video EEG which revealed electrographic seizures correlating with rhythmic right arm shaking, subclinical and intermittent focal left parietal seizures despite therapeutic valproate levels. Medications adjusted until Levetiracetam and Lacosamide achieved seizure control. Abnormalities throughout simultaneous workup included a CSF lactic acid of 4.4. MR spectroscopy revealed decreased NAA and an inverted doublet lactate peak at 1.33 ppm on the affected side, typical for MELAS. Mayo Clinic mitochondrial gene sequencing confirmed MELAS diagnosis with presence of m.3243A>G mitochondrial DNA mutation in the MT-TL1 gene. Patient was treated with IV carnitine and discharged with therapy services and outpatient follow up with neurology.

Conclusions

This case highlights the importance of considering MELAS in suspected stroke with continued clinical deterioration and progressive MRI changes.

Authors/Disclosures
Adriana C. Mendez, MD PRESENTER	Dr. Mendez has nothing to disclose.
Sruthi Devarinti, DO (St.Luke Neurology)	Dr. Devarinti has nothing to disclose.
Azima Shaji, MD, MBBS (University of Texas, Health Science Center, Houston)	Dr. Shaji has nothing to disclose.