Diagnosing MEB involves a combination of clinical evaluation, genetic testing, and imaging studies. Key steps include:
Clinical Evaluation: A detailed medical history and physical examination to assess muscle tone, developmental milestones, and eye health. Genetic Testing: Confirmatory diagnosis is often made through genetic testing to identify mutations in the POMGNT1 gene. Imaging Studies: MRI of the brain can reveal characteristic abnormalities like cobblestone lissencephaly.
