著者

Ryota Hikiami Hodaka Yamakado Shinsui Tatsumi Takashi Ayaki Yuichiro Hashi Hirofumi Yamashita Nobukatsu Sawamoto Teruyuki Tsuji Makoto Urushitani Ryosuke Takahashi

出版者

The Japanese Society of Internal Medicine

雑誌

Internal Medicine (ISSN:09182918)

巻号頁・発行日

vol.57, no.13, pp.1917-1919, 2018-07-01 (Released:2018-07-01)

参考文献数

10

被引用文献数

7

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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.

著者

Ryota Hikiami Hodaka Yamakado Shinsui Tatsumi Takashi Ayaki Yuichiro Hashi Hirofumi Yamashita Nobukatsu Sawamoto Teruyuki Tsuji Makoto Urushitani Ryosuke Takahashi

出版者

The Japanese Society of Internal Medicine

雑誌

Internal Medicine (ISSN:09182918)

巻号頁・発行日

pp.0285-17, (Released:2018-02-09)

参考文献数

10

被引用文献数

7

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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.

著者

Fumika Azuma Kazuya Nokura Tetsuharu Kako Mari Yoshida Shinsui Tatsumi

出版者

The Japanese Society of Internal Medicine

雑誌

Internal Medicine (ISSN:09182918)

巻号頁・発行日

pp.7635-21, (Released:2021-10-12)

参考文献数

31

被引用文献数

1

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A 57-year-old woman presented with optic neuritis with repeated clinical symptoms of focal demyelination of the cerebral white matter and brain stem for 14 years. At the end of the patient's course, the clinical signs mimicked secondary progressive multiple sclerosis, but whether it was caused by interferon administration or neuromyelitis optica spectrum disorders (NMOSD)-or a combination of both or others-was unclear. Histopathological findings indicated the etiology to be NMOSD, with no apparent plaque in spinal cord specimens. This case suggests that an accurate clinical diagnosis requires serum anti-aquaporin 4 antibody measurements as well as an autopsy examination.