Background: Alpers disease is commonly associated with polymerase gamma deficiency and usually affects infants or young children.
Objective: To report a juvenile case of Alpers disease due to mutations in the polymerase gamma 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 of POLG1 showed 2 novel mutations: T851A and R1047W.
Conclusion: The POLG1 mutations can cause juvenile and childhood Alpers disease.
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| http://dx.doi.org/10.1001/archneurol.2007.14 | DOI Listing |
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