Alexander Disease

Alexander disease is a rare, progressive leukodystrophy caused by mutations in the GFAP gene, leading to abnormal accumulation of Rosenthal fibers in astrocytes. Clinical forms include infantile, juvenile, and adult-onset, with the infantile form presenting with macrocephaly, developmental delay, spasticity, and seizures. MRI reveals frontal-predominant white matter abnormalities with basal ganglia and brainstem involvement. Diagnosis is confirmed via genetic testing for GFAP mutations. Management is supportive and symptomatic, including seizure control and physical therapy, with prognosis poor in early-onset cases due to rapid neurological deterioration.