Stroke-like episodes, peri-episodic seizures, and MELAS mutations

Area of Science:

• Neurology
• Mitochondrial Medicine
• Neuroimaging

Background:

• Stroke-like episodes (SLEs) are characteristic of mitochondrial disorders, notably MELAS syndrome.
• SLEs present with distinct imaging patterns: vasogenic or cytotoxic edema acutely, and cortical necrosis chronically.

Purpose of the Study:

• To differentiate SLEs from ischemic stroke due to differing management protocols.
• To outline diagnostic and therapeutic approaches for SLEs in mitochondrial disorders.

Main Methods:

• Review of neuroimaging findings (DWI, ADC, T1-hyperintensity) in SLEs.
• Analysis of seizure presentation and EEG activity in relation to SLEs.
• Evaluation of treatment responses to NO-precursors and antiepileptic drugs (AEDs).

Main Results:

• SLEs require differentiation from ischemic stroke due to distinct management.
• Seizures can occur with or without SLEs in MELAS syndrome.
• NO-precursors (l-arginine, succinate, citrulline) and ketogenic diets show potential benefits; AEDs with low mitochondrion-toxicity are preferred initially.

Conclusions:

• EEG recording is essential for all patients with SLEs, regardless of seizure manifestation.
• No specific mtDNA or nDNA mutations are identified as predisposing factors for SLEs with seizures.