Background

The clinical severity of Sandhoff disease is known to vary widely. Furthermore, long-term follow-up report is very limited in the literature.

Case presentation

We present a long-term follow-up report of a patient with juvenile-onset Sandhoff disease with a motor neuron disease phenotype. The patient had compound heterozygous variants of HEXB (p.Trp460Arg, p. Arg533His); the Trp460Arg was a novel variant. Long-term follow-up revealed no intellectual deterioration, swallowing dysfunction, or respiratory muscle dysfunction despite progressive weakness of the extremities and sensory disturbances.

Conclusion

We need to be aware of Sandhoff disease in patients with juvenile-onset motor neuron disease.

中文翻译：

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青少年发病的 Sandhoff 病 23 年随访报告，表现为运动神经元病表型和新变异

背景

已知 Sandhoff 病的临床严重程度差异很大。此外，文献中的长期随访报告非常有限。

案例展示

我们提出了一个具有运动神经元疾病表型的青少年型 Sandhoff 病患者的长期随访报告。该患者具有 HEXB 的复合杂合变体（p.Trp460Arg，p.Arg533His）；Trp460Arg 是一种新颖的变体。长期随访显示，尽管四肢逐渐无力和感觉障碍，但没有智力退化、吞咽功能障碍或呼吸肌功能障碍。

结论

我们需要注意青少年发病的运动神经元病患者的 Sandhoff 病。