With interest we read the article by Tarka et al. about the autopsy findings of an 8-year-old female with mitochondrial disorder (MID) due to the compound heterozygous variants c.2243G>C and c.2542G>A in POLG1 [1]. The patient manifested clinically with mental retardation, developmental regression, and myoclonic epilepsy, for which she received valproic acid (VPA) [1]. Neuropathological studies after death from acute pancreatitis and liver failure revealed bilaterally symmetric degenerative lesions of the accessory olivary nuclei in addition to typical features of Alpers-Huttenlocher disease (AHD) [1]. It was concluded that pancreatitis prior to liver failure is unusual [1]. The study is appealing but raises comments and concerns.

中文翻译：

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POLG1 携带者肌阵挛性癫痫的丙戊酸可能是致命的

我们饶有兴趣地阅读了 Tarka 等人的文章。关于一名 8 岁女性因 POLG1 中的复合杂合变异 c.2243G>C 和 c.2542G>A 而患有线粒体疾病 (MID) 的尸检结果 [1]。患者临床表现为智力低下、发育倒退和肌阵挛性癫痫，为此她接受了丙戊酸 (VPA) [1]。急性胰腺炎和肝功能衰竭死亡后的神经病理学研究显示，除了 Alpers-Huttenlocher 病 (AHD) 的典型特征外，副橄榄核还出现双侧对称的退行性病变 [1]。得出的结论是，肝功能衰竭前的胰腺炎并不常见[1]。这项研究很有吸引力，但也引发了评论和担忧。