Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease
Genetic testing identified novel compound heterozygous missense variants in the HEXA gene (NM_00520.6: c.775A>C and NM_000520.6: c.508C>T) in a 16-month-old girl diagnosed with Tay‒Sachs disease. The patient gradually became unable to consume food orally. She suffered severe aspiration pneumonia and underwent gastrostomy and laryngotracheal separation at 2 years and 4 months of age. Despite an initially good prognosis, she died at 3 years of age.
Authors
- Masaharu Moroto (ORCID: https://orcid.org/0000-0002-8330-6456)
- Taichi Nakatani (ORCID: https://orcid.org/0000-0003-2118-8260)
- Yoshihiro Nitta (ORCID: https://orcid.org/0000-0003-4260-4673)
- Tomohiro Chiyonobu (ORCID: https://orcid.org/0000-0001-6678-060X)
- Hiroyuki Yamada (ORCID: https://orcid.org/0000-0002-5167-3147)
- Yohei Sugimoto (ORCID: https://orcid.org/0000-0003-1787-9093)
- Kayo Ozaki (ORCID: https://orcid.org/0000-0002-0938-8967)
- Norio Sakai (ORCID: https://orcid.org/0000-0003-3374-6709)
- Uda Daisuke
- Tomoya Yodoi
Institutions
- Kyoto Prefectural University of Medicine (JP)
- National Institute of Technology, Maizuru College (JP)
- Maizuru Municipal Hospital (JP)
- Fukuyama City Hospital (JP)
- Kobe Children's Hospital (JP)
- Toyooka Hospital (JP)
Publication Details
- Journal
- Human Genome Variation
- Published
- 2024-11-29
- DOI
- https://doi.org/10.1038/s41439-024-00300-0
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00