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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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
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author Takahashi, Nobutaka
Mishima, Takayasu
Fujioka, Shinsuke
Izumi, Kohtarou
Ando, Masahiro
Higuchi, Yujiro
Takashima, Hiroshi
Tsuboi, Yoshio
author_facet Takahashi, Nobutaka
Mishima, Takayasu
Fujioka, Shinsuke
Izumi, Kohtarou
Ando, Masahiro
Higuchi, Yujiro
Takashima, Hiroshi
Tsuboi, Yoshio
author_sort Takahashi, Nobutaka
collection PubMed
description 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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spelling pubmed-104652932023-08-30 Siblings with Cockayne Syndrome B Type III Presenting with Slowly Progressive Cerebellar Ataxia Takahashi, Nobutaka Mishima, Takayasu Fujioka, Shinsuke Izumi, Kohtarou Ando, Masahiro Higuchi, Yujiro Takashima, Hiroshi Tsuboi, Yoshio Intern Med Case Report 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. The Japanese Society of Internal Medicine 2023-08-01 2023-08-01 /pmc/articles/PMC10465293/ /pubmed/37532514 http://dx.doi.org/10.2169/internalmedicine.0061-22 Text en Copyright © 2023 by The Japanese Society of Internal Medicine https://creativecommons.org/licenses/by-nc-nd/4.0/The Internal Medicine is an Open Access journal distributed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License. To view the details of this license, please visit (https://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Takahashi, Nobutaka
Mishima, Takayasu
Fujioka, Shinsuke
Izumi, Kohtarou
Ando, Masahiro
Higuchi, Yujiro
Takashima, Hiroshi
Tsuboi, Yoshio
Siblings with Cockayne Syndrome B Type III Presenting with Slowly Progressive Cerebellar Ataxia
title Siblings with Cockayne Syndrome B Type III Presenting with Slowly Progressive Cerebellar Ataxia
title_full Siblings with Cockayne Syndrome B Type III Presenting with Slowly Progressive Cerebellar Ataxia
title_fullStr Siblings with Cockayne Syndrome B Type III Presenting with Slowly Progressive Cerebellar Ataxia
title_full_unstemmed Siblings with Cockayne Syndrome B Type III Presenting with Slowly Progressive Cerebellar Ataxia
title_short Siblings with Cockayne Syndrome B Type III Presenting with Slowly Progressive Cerebellar Ataxia
title_sort siblings with cockayne syndrome b type iii presenting with slowly progressive cerebellar ataxia
topic Case Report
url 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
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