Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease
Year: 2024
Type: article
Study design: Case Report
Abstract: 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.
Source: Human Genome Variation
Authors: Masaharu Moroto, Uda Daisuke, Tomoya Yodoi, Yoshihiro Nitta, Yohei Sugimoto, Tomohiro Chiyonobu, Hiroyuki Yamada, Kayo Ozaki, Taichi Nakatani, Norio Sakai
Language: English
Subfield: Genetics (clinical)
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,090
OpenAlex ID: W4404837366