著者
Akira Yokote Shinsuke Fujioka Nobutaka Takahashi Takayasu Mishima Yoshio Tsuboi
出版者
The Japanese Society of Internal Medicine
雑誌
Internal Medicine (ISSN:09182918)
巻号頁・発行日
pp.8934-21, (Released:2022-03-26)
参考文献数
15
被引用文献数
7

We herein report a 71-year-old woman presented with a fever, arthralgia, general malaise and leg muscle stiffness following administration of the COVID-19 mRNA vaccine (Comirnaty, Pfizer-BioNTech). Laboratory findings showed an elevated C-reactive protein level and erythrocyte sedimentation rate. In addition, Gallium-67 scintigraphy demonstrated an increased uptake in multiple joints. Typing of HLA revealed the presence of the DRB1*0404/*0803 allele. These findings met the diagnostic criteria for polymyalgia rheumatica (PMR), and when we started steroid treatment, her symptoms improved rapidly. This patient developed PMR after receiving a COVID-19 mRNA vaccine (Comirnaty, Pfizer-BioNTech). This case is considered to be valuable, as the HLA-DRB1 allele was also confirmed.
著者
Akira Yokote Shinsuke Fujioka Nobutaka Takahashi Takayasu Mishima Yoshio Tsuboi
出版者
The Japanese Society of Internal Medicine
雑誌
Internal Medicine (ISSN:09182918)
巻号頁・発行日
vol.61, no.11, pp.1775-1777, 2022-06-01 (Released:2022-06-01)
参考文献数
15
被引用文献数
7

We herein report a 71-year-old woman presented with a fever, arthralgia, general malaise and leg muscle stiffness following administration of the COVID-19 mRNA vaccine (Comirnaty, Pfizer-BioNTech). Laboratory findings showed an elevated C-reactive protein level and erythrocyte sedimentation rate. In addition, Gallium-67 scintigraphy demonstrated an increased uptake in multiple joints. Typing of human leukocyte antigen (HLA) revealed the presence of the DRB1*0404/*0803 allele. These findings met the diagnostic criteria for polymyalgia rheumatica (PMR), and when we started steroid treatment, her symptoms improved rapidly. This patient developed PMR after receiving a COVID-19 mRNA vaccine (Comirnaty, Pfizer-BioNTech). This case is considered to be valuable, as the HLA-DRB1 allele was also confirmed.
著者
Nobutaka Takahashi Takayasu Mishima Shinsuke Fujioka Kohtarou Izumi Masahiro Ando Yujiro Higuchi Hiroshi Takashima Yoshio Tsuboi
出版者
The Japanese Society of Internal Medicine
雑誌
Internal Medicine (ISSN:09182918)
巻号頁・発行日
vol.62, no.15, pp.2253-2259, 2023-08-01 (Released:2023-08-01)
参考文献数
25
被引用文献数
1

Two patients, 48- and 50-year-old sisters, presented with a characteristic facial appearance with slowly progressive deafness and cerebellar ataxia starting in their 30s. Genetic testing identified compound heterozygous pathogenic variants in the ERCC6 gene: c.1583G>A (p.G528E) and c.1873T>G (p.Y625D). A diagnosis of Cockayne syndrome (CS) B type III was made. CS is usually diagnosed in childhood with well-defined facial characteristics and photosensitivity. This case report describes rare cases of adulthood CS with a primary presentation of slowly progressing deafness and cerebellar ataxia. CS should be considered in adults with characteristic facial and skin findings, deafness, and cerebellar ataxia.