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Case Reports
Siblings with Cockayne Syndrome B Type III Presenting with Slowly Progressive Cerebellar Ataxia.
- Nobutaka Takahashi, Takayasu Mishima, Shinsuke Fujioka, Kohtarou Izumi, Masahiro Ando, Yujiro Higuchi, Hiroshi Takashima, and Yoshio Tsuboi.
- Department of Neurology, Faculty of Medicine, Fukuoka University, Japan.
- Intern. Med. 2023 Jan 1; 62 (15): 225322592253-2259.
AbstractTwo 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.
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