J Med Cases

Journal of Medical Cases, ISSN 1923-4155 print, 1923-4163 online, Open Access

Article copyright, the authors; Journal compilation copyright, J Med Cases and Elmer Press Inc

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Case Report

Volume 000, Number 000, January 2026, pages 000-000

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

**Table 1.** Perioperative Concerns of Anesthetic Care in Patients With Koolen-de Vries Syndrome
1. Craniofacial dysmorphism: a) Difficulties with bag-valve-mask ventilation or endotracheal intubation; b) Upper airway obstruction during anesthetic induction or recovery phase.
2. Upper airway involvement: a) Laryngomalacia; b) Tracheomalacia.
3. Central nervous system involvement: a) Hypotonia; b) Global developmental delay with moderate intellectual disability; c) Seizures; d) Structural central nervous system abnormalities.
4. Congenital heart disease: a) Atrial septal or ventricular septal defects; b) Patent ductus arteriosus; c) Patent foramen ovale; d) Aortic valve involvement (hypoplastic or bicuspid valve).
5. Aspiration risk due to pharyngeal dyscoordination and gastro-esophageal reflux
6. Urogenital malformations
7. Musculoskeletal involvement including neuromuscular scoliosis and joint contractures: a) Positioning challenges during anesthetic care; b) Difficult vascular access.
8. Hearing loss
9. Ophthalmic involvement

Table 1. Perioperative Concerns of Anesthetic Care in Patients With Koolen-de Vries Syndrome

1. Craniofacial dysmorphism: a) Difficulties with bag-valve-mask ventilation or endotracheal intubation; b) Upper airway obstruction during anesthetic induction or recovery phase.

2. Upper airway involvement: a) Laryngomalacia; b) Tracheomalacia.

3. Central nervous system involvement: a) Hypotonia; b) Global developmental delay with moderate intellectual disability; c) Seizures; d) Structural central nervous system abnormalities.

4. Congenital heart disease: a) Atrial septal or ventricular septal defects; b) Patent ductus arteriosus; c) Patent foramen ovale; d) Aortic valve involvement (hypoplastic or bicuspid valve).

5. Aspiration risk due to pharyngeal dyscoordination and gastro-esophageal reflux

6. Urogenital malformations

7. Musculoskeletal involvement including neuromuscular scoliosis and joint contractures: a) Positioning challenges during anesthetic care; b) Difficult vascular access.

8. Hearing loss

9. Ophthalmic involvement

**Table 2.** Previous Reports of Anesthetic Care in Patients With Koolen-de Vries Syndrome
Author and reference	Patient demographic	Anesthetic technique	Comments and outcome
ETT: endotracheal tube; MRI: magnetic resonance imaging.
Kavakli [7]	A 2-year-old, 11.6 kg girl requiring sedation for sedation for MRI. Echocardiography revealed patent foramen ovale with trivial tricuspid regurgitation. Facial dysmorphism: tubular or pear-shaped nose, bulbous nasal tip, epicanthal folds, up-slanting palpebral fissures, and telecanthus.	Premedication with oral midazolam (0.5 mg/kg) administered 30 min before the procedure, followed by placement of an intravenous cannula. Procedural sedation included intravenous propofol (0.5 mg/kg) and ketamine (1 mg/kg).	Airway approach: Spontaneous ventilation with a native airway during the procedure. Nasal cannula oxygen at 1 L/min. No intraoperative concerns. Patient discharged home the same day.
Zhao and Zuo [8]	A 21-month-old, 11 kg boy for orchiopexy. History of associated laryngo-tracheomalacia admitted for orchiopexy. Echocardiography revealed a patent foramen ovale. Facial dysmorphism: long face, broad forehead, blepharophimosis, ptosis, epicanthal folds, tubular pear-shaped nose, and large prominent ears.	Intravenous induction with midazolam (0.75 mg), fentanyl (20 µg), and etomidate (6 mg). Maintenance anesthesia with sevoflurane (1-3%) and remifentanil infusion (0.1 - 0.15 µg/kg/min). Postoperative analgesia with a caudal epidural block (12 mL of 0.25% ropivacaine).	Airway approach: A supraglottic airway (i-gel) was placed, but failed to provide an adequate airway as inspiratory pressures with high with low tidal volumes. Therefore, an ETT was placed (no mention made of technique or difficulty with placement), and the case was completed. Airway events: Following tracheal extubation, agitation, upper airway obstruction, and oxygen desaturation were noted. Treatment included lateral positioning and the administration of a dose of etomidate which resulted in some improvement. Intermittent upper airway obstruction and stridor were noted for the first 48 postoperative hours.

Table 2. Previous Reports of Anesthetic Care in Patients With Koolen-de Vries Syndrome

Author and reference

Patient demographic

Anesthetic technique

Comments and outcome

ETT: endotracheal tube; MRI: magnetic resonance imaging.

Kavakli [7]

A 2-year-old, 11.6 kg girl requiring sedation for sedation for MRI. Echocardiography revealed patent foramen ovale with trivial tricuspid regurgitation. Facial dysmorphism: tubular or pear-shaped nose, bulbous nasal tip, epicanthal folds, up-slanting palpebral fissures, and telecanthus.

Premedication with oral midazolam (0.5 mg/kg) administered 30 min before the procedure, followed by placement of an intravenous cannula. Procedural sedation included intravenous propofol (0.5 mg/kg) and ketamine (1 mg/kg).

Airway approach: Spontaneous ventilation with a native airway during the procedure. Nasal cannula oxygen at 1 L/min. No intraoperative concerns. Patient discharged home the same day.

Zhao and Zuo [8]

A 21-month-old, 11 kg boy for orchiopexy. History of associated laryngo-tracheomalacia admitted for orchiopexy. Echocardiography revealed a patent foramen ovale. Facial dysmorphism: long face, broad forehead, blepharophimosis, ptosis, epicanthal folds, tubular pear-shaped nose, and large prominent ears.

Intravenous induction with midazolam (0.75 mg), fentanyl (20 µg), and etomidate (6 mg). Maintenance anesthesia with sevoflurane (1-3%) and remifentanil infusion (0.1 - 0.15 µg/kg/min). Postoperative analgesia with a caudal epidural block (12 mL of 0.25% ropivacaine).

Airway approach: A supraglottic airway (i-gel) was placed, but failed to provide an adequate airway as inspiratory pressures with high with low tidal volumes. Therefore, an ETT was placed (no mention made of technique or difficulty with placement), and the case was completed. Airway events: Following tracheal extubation, agitation, upper airway obstruction, and oxygen desaturation were noted. Treatment included lateral positioning and the administration of a dose of etomidate which resulted in some improvement. Intermittent upper airway obstruction and stridor were noted for the first 48 postoperative hours.