2025, Vol. 8, Issue 1, Part A

Tay-Sachs disease (TSD) is a rare autosomal recessive genetic disorder caused by a deficiency of the enzyme hexosaminidase-A. Infants with TSD typically develop normally for the first few months of life, after which they experience progressive loss of motor functions, cognitive decline, seizures, blindness and difficulty in swallowing. These complications often lead to death by the age of three to five years. A two-year-old boy with TSD presented with swallowing difficulties, choking episodes, and intermittent seizures over the preceding two months. He was scheduled for a feeding gastrostomy to address his nutritional needs. Pre-anaesthetic evaluation revealed severe disease manifestations, including profound cognitive impairment, unresponsiveness to painful stimuli, blindness, hearing loss, and ongoing convulsions. His medication regimen included clobazam, levetiracetam, baclofen, perampanel, and glycopyrrolate, administered via a nasogastric tube. During the preoperative period, the patient experienced convulsions, which were managed with intravenous midazolam. General anaesthesia, rapid sequence induction with glycopyrrolate, fentanyl, propofol, and rocuronium, followed by endotracheal intubation was done. Maintenance anaesthesia included oxygen, nitrous oxide, sevoflurane and rocuronium. Neuromuscular monitoring was done throughout the procedure. After surgery, neuromuscular blockade was reversed with neostigmine, and the patient was extubated upon demonstrating adequate respiratory effort.

This case highlights the importance of thorough pre-anaesthetic assessment and careful intraoperative management in patients with TSD undergoing surgical procedures.