MELAS with A3243G mutation presenting with occipital status epilepticus

Area of Science:

• Neurology
• Mitochondrial Genetics
• Neuroimaging

Background:

• Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a common mitochondrial disorder.
• The A3243G mutation is frequently implicated in MELAS pathogenesis.

Observation:

• A patient presented with visual hallucinations, headaches, and nonconvulsive status epilepticus originating in the left occipital lobe.
• Neuroimaging revealed subtle T2 hyperintensity that resolved, followed by diffusion restriction atypical for vascular territories.
• The patient's condition progressed to multifocal seizures.

Findings:

• The case highlights an unusual presentation of MELAS involving occipital lobe seizures.
• Neuroimaging and electroencephalogram (EEG) findings evolved over time, presenting diagnostic challenges.
• The study discusses the dynamic changes in neuroimaging and EEG in this MELAS patient.

Implications:

• Occipital lobe seizures should raise suspicion for MELAS, even with atypical initial presentations.
• Early recognition of MELAS is critical for appropriate patient management and treatment.
• This case broadens the understanding of MELAS clinical and radiological manifestations.