Mitochondrial Strokes: Diagnostic Challenges and Chameleons.

Area of Science:

• Neurology
• Genetics
• Neuroimaging

Background:

• Mitochondrial stroke-like episodes (SLEs) are a key feature of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS).
• Diagnosis is challenging, especially during acute events, despite implications for treatment and genetic counseling.
• SLEs can mimic other neurological conditions like encephalitis and vasculitis.

Purpose of the Study:

• To highlight the diagnostic challenges of MELAS.
• To discuss clinical, laboratory, and imaging features aiding MELAS differentiation.
• To present cases illustrating overlap with other neurological disorders.

Main Methods:

• Case series of four patients with mitochondrial strokes.
• Review of clinical presentations, neuroimaging (MRI), and laboratory findings.
• Comparative analysis with differential diagnoses including viral/autoimmune encephalitis, ischemic stroke, and CNS vasculitis.

Main Results:

• Mitochondrial SLEs exhibit evolving MRI lesions, often in posterior brain regions.
• Multisystemic involvement (diabetes, deafness, cardiomyopathy) and family history are suggestive.
• Significant overlap exists between MELAS and other neurological disorders, complicating diagnosis.

Conclusions:

• Early suspicion of MELAS is vital in patients with focal neurological symptoms and suggestive features.
• Differentiating MELAS from mimics requires careful evaluation of clinical, laboratory, and imaging data.
• Accurate diagnosis enables appropriate management and genetic counseling for MELAS patients and families.