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

## TL;DR

This paper discusses the anesthetic care of a child with Koolen-de Vries syndrome during spinal surgery, highlighting the challenges and management strategies.

## Contribution

The paper provides a detailed case report and review of perioperative management for a rare genetic syndrome, offering practical insights for anesthetic care.

## Key findings

- A 13-year-old patient with KdVS underwent posterior spinal fusion with tailored anesthetic strategies.
- The paper reviews previous case reports and outlines the spectrum of end-organ involvement in KdVS.
- Options for perioperative care are discussed to guide anesthetic management in similar cases.

## 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.