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Clinical and genetic features of a case with juvenile onset sandhoff disease

BACKGROUND: Sandhoff disease (SD) is a rare neurological disease with high clinical heterogeneity. SD in juvenile form is much rarer and it is often misdiagnosed in clinics. Therein, it is necessary to provide more cases and review the literature on juvenile onset SD. CASE PRESENTATION: A 14 years-o...

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Autores principales: Yin, Jin-Hui, Hu, Wen-Zheng, Huang, Yue
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10286434/
https://www.ncbi.nlm.nih.gov/pubmed/37344817
http://dx.doi.org/10.1186/s12883-023-03267-7
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author Yin, Jin-Hui
Hu, Wen-Zheng
Huang, Yue
author_facet Yin, Jin-Hui
Hu, Wen-Zheng
Huang, Yue
author_sort Yin, Jin-Hui
collection PubMed
description BACKGROUND: Sandhoff disease (SD) is a rare neurological disease with high clinical heterogeneity. SD in juvenile form is much rarer and it is often misdiagnosed in clinics. Therein, it is necessary to provide more cases and review the literature on juvenile onset SD. CASE PRESENTATION: A 14 years-old boy with eight years of walking difficulties, and was ever misdiagnosed as spinocerebellar ataxia. We found this patient after genetic testing carried rs201580118 and a novel gross deletion in HEXB (g.74012742_74052694del). Through review the literature, we found that was the first gross deletion identified at the 3’end of HEXB, associated with juvenile onset SD from China. CONCLUSION: This case expanded our knowledge about the genotype and phenotype correlations in SD. Comprehensive genetic testing is important for the diagnosis of unexplained ataxia. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12883-023-03267-7.
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spelling pubmed-102864342023-06-23 Clinical and genetic features of a case with juvenile onset sandhoff disease Yin, Jin-Hui Hu, Wen-Zheng Huang, Yue BMC Neurol Case Report BACKGROUND: Sandhoff disease (SD) is a rare neurological disease with high clinical heterogeneity. SD in juvenile form is much rarer and it is often misdiagnosed in clinics. Therein, it is necessary to provide more cases and review the literature on juvenile onset SD. CASE PRESENTATION: A 14 years-old boy with eight years of walking difficulties, and was ever misdiagnosed as spinocerebellar ataxia. We found this patient after genetic testing carried rs201580118 and a novel gross deletion in HEXB (g.74012742_74052694del). Through review the literature, we found that was the first gross deletion identified at the 3’end of HEXB, associated with juvenile onset SD from China. CONCLUSION: This case expanded our knowledge about the genotype and phenotype correlations in SD. Comprehensive genetic testing is important for the diagnosis of unexplained ataxia. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12883-023-03267-7. BioMed Central 2023-06-21 /pmc/articles/PMC10286434/ /pubmed/37344817 http://dx.doi.org/10.1186/s12883-023-03267-7 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Yin, Jin-Hui
Hu, Wen-Zheng
Huang, Yue
Clinical and genetic features of a case with juvenile onset sandhoff disease
title Clinical and genetic features of a case with juvenile onset sandhoff disease
title_full Clinical and genetic features of a case with juvenile onset sandhoff disease
title_fullStr Clinical and genetic features of a case with juvenile onset sandhoff disease
title_full_unstemmed Clinical and genetic features of a case with juvenile onset sandhoff disease
title_short Clinical and genetic features of a case with juvenile onset sandhoff disease
title_sort clinical and genetic features of a case with juvenile onset sandhoff disease
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10286434/
https://www.ncbi.nlm.nih.gov/pubmed/37344817
http://dx.doi.org/10.1186/s12883-023-03267-7
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