# Anesthesia management for a child with the Koolen-de Vries syndrome: a case report

## TL;DR

This case report describes the challenges of managing anesthesia for a child with Koolen-de Vries syndrome, a rare genetic disorder, during a surgical procedure.

## Contribution

The paper presents a new case report on anesthesia management for a Koolen-de Vries syndrome patient, highlighting specific strategies and complications.

## Key findings

- Special measures like spontaneous breathing and laryngeal mask use were attempted but required adjustment due to airway complications.
- Post-extubation lateral positioning and etomidate helped manage laryngeal spasm and hypoxia without re-intubation.
- Prolonged post-anesthesia monitoring is recommended for KdVS patients due to potential airway complications.

## Abstract

The Koolen-de Vries syndrome (KdVS) is a relatively new rare disease caused by micro-deletion of 17q21.31 which was first reported by Koolen in 2006. Typical phenotypes for KdVS include hypotonia, developmental delay, moderate intellectual disability, and characteristic facial dysmorphism. Up to now, there was only one case report about anesthesia management of patient diagnosed KdVS. It was a 2-year-old girl who experienced an MRI exam under anesthesia.

We described a 21-month-old boy who planned to undergo an orchidopexy under general anesthesia diagnosed with KdVS. He had an intellectual disability, characteristic facial dysmorphism, tracheo/laryngomalacia, patent foramen ovale, and cryptorchidism related to KdVS. Due to the complex condition especially the presence of tracheo/laryngomalacia, we took some special measures, including reducing the amount of long-acting opioid, keeping the spontaneous breath, performing a caudal block, and applying the laryngeal mask. But the laryngeal mask was changed to an endotracheal tube because it failed to provide adequate ventilation. The boy experienced mild laryngeal spasm and hypoxia after extubation, but lateral position and etomidate eased his breathing problem and re-intubation was avoided. It is indicated that anesthesia management for patients with orphan disease is a real challenge for all anesthesia providers.

The Koolen-de Vries syndrome is a relatively new orphan disease involving multiple systems. Keeping spontaneous breath, evaluating airway potency to anesthetics, applying endotracheal tube, and post-extubation lateral or prone position may be helpful for airway management for patient with hypotonia and tracheo/laryngomalacia. KdVS patient needs prolonged post-anesthesia monitoring and/or medication for airway complications.