We present a female patient with a mutation of the POLG gene (POLG DNA polymerase gamma, catalytic subunit; *174763) in which the clinical course suggested a mitochondrial disease, a neuropathological examination identified the syndrome more closely, and a genetic test confirmed the disease. Apart from the morphological lesions typical of Alpers-Huttenlocher syndrome, rarely observed symmetrical degenerative changes in the accessory olivary nuclei were found. It was unusual in the clinical course of the disease that pancreatitis was diagnosed before symptoms of liver failure appeared.

中文翻译：

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POLG 基因突变。临床神经病理学研究

我们介绍了一名患有 POLG 基因（POLG DNA 聚合酶 γ，催化亚基；*174763）突变的女性患者，其中临床病程提示线粒体疾病，神经病理学检查更密切地确定了该综合征，并且基因检测证实了该疾病. 除了典型的 Alpers-Huttenlocher 综合征的形态学损伤外，在辅助橄榄核中很少观察到对称的退行性变化。在疾病的临床过程中，在肝功能衰竭症状出现之前诊断出胰腺炎是不寻常的。