Juvenile Alpers disease

Abstract

Background: Alpers disease is commonly associated with polymerase γ deficiency and usually affects infants or young children. Objective: To report a juvenile case of Alpers disease due to mutations in the polymerase γ gene (POLG1). Design: Clinical, pathologic, biochemical, and molecular analysis. Setting: Tertiary care university hospital and academic institutions. Patient: A 17-year-old adolescent girl with intractable epilepsy and liver disease. Main Outcome Measures: Clinical course and pathologic, biochemical, and molecular features. Results: Biochemical and pathologic evidence suggested a respiratory chain defect, which was confirmed by enzyme analysis of the liver. Mutational analysis..