- 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.