Vanishing White Matter Disease

Vanishing white matter disease is a rare leukodystrophy caused by mutations in EIF2B genes, affecting astrocyte function. Clinical features include progressive motor decline, spasticity, ataxia, and episodes triggered by fever or stress. Pathophysiology involves progressive demyelination and white matter rarefaction. Diagnosis is clinical, supported by MRI showing diffuse white matter loss and genetic testing. Management is supportive, focusing on symptom management and avoiding triggers; prognosis is progressive with early childhood onset associated with more severe outcomes.