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BMC Neurology
Published in:

Open Access 21-06-2023 | Disease of Central Nervous System | Case Report

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

Authors: Jin-Hui Yin, Wen-Zheng Hu, Yue Huang

Published in: BMC Neurology | Issue 1/2023

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Abstract

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.
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Metadata
Title
Clinical and genetic features of a case with juvenile onset sandhoff disease
Authors
Jin-Hui Yin
Wen-Zheng Hu
Yue Huang
Publication date
21-06-2023
Publisher
BioMed Central
Published in
BMC Neurology / Issue 1/2023
Electronic ISSN: 1471-2377
DOI
https://doi.org/10.1186/s12883-023-03267-7

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