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

BMC Neurology

Case Report

Wen-Zheng Hu¹  Jin-Hui Yin¹  Yue Huang² 

[1] Beijing Tiantan Hospital, China National Clinical Research Center for Neurological Diseases, Capital Medical University, 100070, Beijing, PR China;Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, 100070, Beijing, PR China;Beijing Tiantan Hospital, China National Clinical Research Center for Neurological Diseases, Capital Medical University, 100070, Beijing, PR China;Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, 100070, Beijing, PR China;Pharmacology Department, School of Biomedical Sciences, Faculty of Medicine and Health, UNSW Sydney, 2032, Sydney, Australia;

关键词: Sandhoff disease;    Ataxia;    HEXB;    Copy number variation (CNV) variant;    Hemizygous variation;   

DOI  :  10.1186/s12883-023-03267-7

 received in 2022-12-25, accepted in 2023-05-29,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundSandhoff 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 presentationA 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.ConclusionThis case expanded our knowledge about the genotype and phenotype correlations in SD. Comprehensive genetic testing is important for the diagnosis of unexplained ataxia.

【 授权许可】

CC BY   
© The Author(s) 2023

【 图 表 】

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