• Hongyan Xie, Shuangzhu Lin, Yang Chen, Wanqi Wang, Yangfan Qi, Jiayi Li, Qiandui Chen, and Xiaochun Feng.
• Diagnosis and Treatment Center for Children, Affiliated Hospital of Changchun University of Chinese Medicine, Changchun, China.
• Medicine (Baltimore). 2023 Jun 16; 102 (24): e33890e33890.

BackgroundSandhoff disease (SD, Online Mendelian Inheritance in Man: 268800) is an autosomal recessive lysosomal storage disorder caused by variants of the β-hexosaminidase B (HEXB) gene (Online Mendelian Inheritance in Man: 606873). The HEXB gene has been mapped to chromosome 5q13 and contains 14 exons. The symptoms of SD include progressive weakness, intellectual disability, visual and hearing impairment, exaggerated startle response, and seizures; the patients usually die before the age of 3 years.[1].Case SummaryWe present a case of SD caused by a homozygous frameshift mutation in the HEXB gene, c.118delG (p.A40fs*24). The male child, aged 2 years 7 months, showed movement retrogression with orbital hypertelorism at age 2 years, accompanied by seizures. Magnetic resonance imaging of the head showed cerebral atrophy and delayed myelination of the white matter of the brain.ConclusionA novel homozygous frameshift c.118delG (p.A40fs*24) variant of HEXB has caused SD in the child. The major symptoms are intellectual disability, visual and hearing impairment, and seizures. Investigation will be continued in the future to comprehensively describe the genotype/phenotype and gain information on other associated features to understand the variable expressivity of this condition.Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.

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