A 23-year follow-up report of juvenile-onset Sandhoff disease presenting with a motor neuron disease phenotype and a novel variant
| Autor: | Takehiko Inui, Noriko Togashi, Moriei Shibuya, Hiroyuki Ida, Satoko Miyatake, Wakaba Endo, Naomi Hino-Fukuyo, Ichiro Nakashima, Kazuhiro Haginoya, Saki Uneoka, Akira Onuma, Yukimune Okubo, Naomichi Matsumoto, Kaori Kodama |
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| Rok vydání: | 2021 |
| Předmět: |
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Pediatrics medicine.medical_specialty business.industry General Medicine Disease Sandhoff disease Motor neuron medicine.disease Compound heterozygosity HEXB medicine.anatomical_structure Developmental Neuroscience Swallowing Pediatrics Perinatology and Child Health medicine Respiratory muscle Neurology (clinical) medicine.symptom business |
| Zdroj: | Brain and Development. 43:1029-1032 |
| ISSN: | 0387-7604 |
| DOI: | 10.1016/j.braindev.2021.06.007 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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