Introduction: Alpers' syndrome is a progressive and often fatal cerebral and hepatic degeneration caused by a mutation in the polymerase gamma (POLG) gene involved in mitochondrial DNA replication.
Objective: We report on eight successive cases from five families.
Methods: Our analysis consisted of case series reports and literature search.
Results: The eight patients were from five extended families, all with clinical manifestations of the syndrome. Seven were confirmed by POLG sequence analysis and one died before testing was possible. We observed that whereas the five females presented with advanced hepatic disease at the onset of neurological symptoms, the three males had normal hepatic function well after presentation, with progressive neurological disease. Two of the three males are distant relatives; two of the five females were sisters of two male patients.
Discussion: Most authors report the coexistence of both hepatic and cerebral disease at the onset of Alpers' syndrome. It is unusual that all three males in our series had no signs of liver disease but had advanced neurological signs.
Conclusion: Initial manifestations in Alpers' syndrome may be gender specific. In males, the condition should be considered in patients with seizures and encephalopathy, even in the absence of hepatic disease.