Hikiami Ryota, Yamakado Hodaka, Tatsumi Shinsui, Ayaki Takashi, Hashi Yuichiro, Yamashita Hirofumi, Sawamoto Nobukatsu, Tsuji Teruyuki, Urushitani Makoto, Takahashi Ryosuke
Department of Neurology, Kyoto University Graduate School of Medicine, Japan.
Tsuji Clinic, Japan.
Intern Med. 2018 Jul 1;57(13):1917-1919. doi: 10.2169/internalmedicine.0285-17. Epub 2018 Feb 9.
We herein report a 15-year-old girl who developed rapid progressive muscle weakness soon after the third injection of a bivalent human papilloma virus (HPV) vaccine. Although immunotherapies were performed for possible vaccine-related disorders, she died of respiratory failure 14 months after the onset of the disease. A genetic analysis identified a heterozygous p.P525L mutation of the fused in sarcoma (FUS) gene, and a histopathological analysis was also consistent with FUS-associated amyotrophic lateral sclerosis (ALS) without any evidence of neuroinflammation. We concluded the diagnosis to be FUS-ALS, although we cannot completely rule out the possibility that the vaccination worked as a trigger.
我们在此报告一名15岁女孩，她在第三次注射二价人乳头瘤病毒（HPV）疫苗后不久出现快速进展的肌肉无力。尽管针对可能的疫苗相关疾病进行了免疫治疗，但她在疾病发作14个月后死于呼吸衰竭。基因分析确定了肉瘤融合蛋白（FUS）基因的杂合p.P525L突变，组织病理学分析也与FUS相关的肌萎缩侧索硬化症（ALS）相符，且无任何神经炎症证据。我们得出诊断为FUS-ALS，尽管我们不能完全排除疫苗接种作为触发因素的可能性。
