• Internal medicine · Jan 2023

    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.

      Pubmed     Copy Citation     Plaintext  

      Add institutional full text...

    Notes

     
    Knowledge, pearl, summary or comment to share?
    300 characters remaining
    help        

    hide…

What will the 'Medical Journal of You' look like?

Start your free 21 day trial now.

We guarantee your privacy. Your email address will not be shared.