Siblings with Cockayne Syndrome B Type III Presenting with Slowly Progressive Cerebellar Ataxia

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 (...

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Detalles Bibliográficos
Autores principales: Takahashi, Nobutaka, Mishima, Takayasu, Fujioka, Shinsuke, Izumi, Kohtarou, Ando, Masahiro, Higuchi, Yujiro, Takashima, Hiroshi, Tsuboi, Yoshio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10465293/
https://www.ncbi.nlm.nih.gov/pubmed/37532514
http://dx.doi.org/10.2169/internalmedicine.0061-22
Descripción
Sumario: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.

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