Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease

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.

Fig. 1. Family tree at diagnosis.

The arrow indicates the index case. Squares indicate males, and circles indicate females. Upward diagonal stripes indicate deceased members. Black filled symbols indicate affected members, and white symbols indicate unaffected members. y years.

Fig. 2. Clinical course.

a T2-weighted brain MR image at 13 months, showing no abnormal findings. b T2-weighted brain MR image at 2 years and 4 months, showing cerebral atrophy and white matter hyperintensity. c Electroencephalogram at 19 months, showing generalized spikes and slow waves. d Electroencephalogram at 2 years and 3 months, with spikes dominantly appearing in the left central region. CLB clobazam, PER perampanel, VPA valproate sodium, LEV levetiracetam, NG tube nasogastric tube, HOT home oxygen therapy, NPPV noninvasive positive pressure ventilation, TPPV tracheostomy-positive pressure ventilation.