Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease
Masaharu Moroto, Uda Daisuke, Tomoya Yodoi, Yoshihiro Nitta, Yohei Sugimoto, Tomohiro Chiyonobu, Hiroyuki Yamada, Kayo Ozaki, Taichi Nakatani, Norio Sakai · 2024
Read Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease by Masaharu Moroto, Uda Daisuke, Tomoya Yodoi, Yoshihiro Nitta, Yohei Sugimoto, Tomohiro Chiyonobu, Hiroyuki Yamada, Kayo Ozaki, Taichi Nakatani, Norio Sakai (2024) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-11604916.txt.
Description
Masaharu Moroto and co-authors report a toddler with Tay-Sachs disease who received two surgeries at once to secure feeding and breathing, in a 2024 case report. Genetic testing found two new variant forms, one from each parent, in the HEXA gene behind the disease. The girl, diagnosed at 16 months, slowly lost the ability to eat by mouth.
At two years and four months, after severe aspiration pneumonia, surgeons placed a stomach feeding tube and separated her windpipe from her food passage in one operation. Food could no longer flood her lungs. Her early course after surgery looked good. She died at age three. The case records how combined surgery can serve children with this fatal disease when swallowing fails.
Catalog record
| CREATOR | Masaharu Moroto, Uda Daisuke, Tomoya Yodoi, Yoshihiro Nitta, Yohei Sugimoto, Tomohiro Chiyonobu, Hiroyuki Yamada, Kayo Ozaki, Taichi Nakatani, Norio Sakai |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 11 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |