INFANTILE ALEXANDER'S DISEASE: A CASE WITH CHARACTERISTIC MRI FEATURES

Area of Science:

• Neurology
• Pediatrics
• Radiology

Background:

• Alexander disease, also known as fibrinoid leukodystrophy, is an extremely rare, non-familial, progressive, and lethal leukodystrophy.
• It primarily affects the white matter, particularly in the bilateral frontal regions of the brain.

Observation:

• The condition typically manifests within the first two years of life.
• Clinical symptoms include macrocephaly (an abnormally large head), recurrent seizures, and psychomotor retardation.

Findings:

• Diagnosis can often be established through specific magnetic resonance imaging (MRI) findings.
• Histological confirmation may not always be necessary for diagnosis.

Implications:

• This case highlights the utility of MRI in diagnosing Alexander disease in infants presenting with seizures.
• Early diagnosis through neuroimaging can facilitate timely management and support for affected children and families.