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Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease
Masaharu Moroto1, Uda Daisuke2,3, Tomoya Yodoi2,4
1Department of Pediatrics, Fukuchiyama City Hospital, Kyoto, Japan. moroto@koto.kpu-m.ac.jp.
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.

