Perioperative Management of a Pediatric Patient With Koolen-de Vries Syndrome Presenting for Posterior Spinal Fusion

Abstract

Koolen-de Vries syndrome (KdVS), caused by haplo-insufficiency of the KANSL1 gene, is a rare neurodevelopmental disorder characterized by hypotonia, intellectual disability, facial dysmorphism, and multi-system end-organ involvement. Given the potential for skeletal and central nervous system involvement, patients with KdVS may require anesthetic care during diagnostic imaging or surgical procedures. Due to the rarity of the syndrome, information regarding anesthetic management remains sparse, derived primarily from isolated case reports. We present the anesthetic management of a 13-year-old patient with KdVS during posterior spinal fusion for neuromuscular scoliosis. Previous case reports are reviewed, the spectrum of end-organ involvement is presented, and options for perioperative care are discussed.