Alpers–Huttenlocher Syndrome

Alpers–Huttenlocher syndrome is a progressive mitochondrial encephalopathy caused by mutations in the POLG gene, presenting in infancy or early childhood. Characteristic features include refractory seizures, developmental regression, and liver dysfunction. Neuropathology demonstrates cortical degeneration with astrocytic and neuronal loss. Diagnosis relies on genetic testing, neuroimaging showing cerebral atrophy, and liver function assessment. Management is supportive, including seizure control and metabolic monitoring; prognosis is poor, with most patients succumbing to neurological or hepatic failure in early childhood.