A 23-year follow-up report of juvenile-onset Sandhoff disease presenting with a motor neuron disease phenotype and a novel variant

Moriei Shibuya; Saki Uneoka; Akira Onuma; Kaori Kodama; Wakaba Endo; Yukimune Okubo; Takehiko Inui; Noriko Togashi; Ichiro Nakashima; Naomi Hino-Fukuyo; Hiroyuki Ida; Satoko Miyatake; Naomichi Matsumoto; Kazuhiro Haginoya

doi:10.1016/j.braindev.2021.06.007

A 23-year follow-up report of juvenile-onset Sandhoff disease presenting with a motor neuron disease phenotype and a novel variant

Brain Dev. 2021 Nov;43(10):1029-1032. doi: 10.1016/j.braindev.2021.06.007. Epub 2021 Jul 1.

Authors

Affiliations

¹ Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai 989-3126, Japan.
² Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan.
³ Department of Neurology, Tohoku Medical and Pharmaceutical University, Sendai, Japan.
⁴ Department of Pediatrics, Tohoku Medical and Pharmaceutical University, Sendai, Japan.
⁵ Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan.
⁶ Department of Human Genetics, Graduate School of Medicine, Yokohama City University, Yokohama 236-0004, Japan.
⁷ Department of Pediatric Neurology, Miyagi Children's Hospital, Sendai 989-3126, Japan; Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan. Electronic address: [email protected].

PMID: 34217565
DOI: 10.1016/j.braindev.2021.06.007

Abstract

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.

Keywords: HEXB; Motor neuron disease; Novel variant; Sandhoff disease.

Publication types

Case Reports

MeSH terms

Adult
Age of Onset
Follow-Up Studies
Humans
Motor Neuron Disease / etiology*
Phenotype
Sandhoff Disease / complications
Sandhoff Disease / genetics*