一份关于表现为运动神经元疾病表型及一种新变异型的青少年型桑德霍夫病的23年随访报告。
A 23-year follow-up report of juvenile-onset Sandhoff disease presenting with a motor neuron disease phenotype and a novel variant.
作者信息
Shibuya Moriei, Uneoka Saki, Onuma Akira, Kodama Kaori, Endo Wakaba, Okubo Yukimune, Inui Takehiko, Togashi Noriko, Nakashima Ichiro, Hino-Fukuyo Naomi, Ida Hiroyuki, Miyatake Satoko, Matsumoto Naomichi, Haginoya Kazuhiro
机构信息
Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai 989-3126, Japan.
Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan.
出版信息
Brain Dev. 2021 Nov;43(10):1029-1032. doi: 10.1016/j.braindev.2021.06.007. Epub 2021 Jul 1.
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.
背景
已知桑德霍夫病的临床严重程度差异很大。此外，文献中关于长期随访的报告非常有限。
病例报告
我们报告了一例具有运动神经元病表型的青少年型桑德霍夫病患者的长期随访情况。该患者具有HEXB基因的复合杂合变异（p.Trp460Arg，p.Arg533His）；Trp460Arg是一种新变异。长期随访显示，尽管四肢逐渐无力和感觉障碍，但患者没有智力衰退、吞咽功能障碍或呼吸肌功能障碍。
结论
对于青少年型运动神经元病患者，我们需要警惕桑德霍夫病。
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