Departments of Neurology, Children's University Hospital, Temple Street, Dublin 1, Ireland.
Eur J Paediatr Neurol. 2011 Nov;15(6):558-62. doi: 10.1016/j.ejpn.2011.05.012. Epub 2011 Jun 24.
We describe four children with a devastating encephalopathy characterised by refractory focal seizures and variable liver dysfunction. We describe their electroencephalographic, radiologic, genetic and pathologic findings. The correct diagnosis was established by rapid gene sequencing. POLG1 based Alpers' disease should be considered in any child presenting with partial status epilepticus.
我们描述了四名儿童患有一种破坏性脑病，其特征为难治性局灶性癫痫发作和可变的肝功能障碍。我们描述了他们的脑电图、影像学、遗传学和病理学发现。通过快速基因测序确立了正确的诊断。任何出现部分性癫痫持续状态的儿童都应考虑基于 POLG1 的 Alpers 病。
