Rubinstein-Taybi Syndrome

Information taken from: Anaesthetic Management of Children with Rubinstein-Taybi Syndrome

Anesthetic management of children with Rubinstein-Taybi syndrome-case reports

Patients with RTS are considered as a potential patient group with difficult intubation. Micrognatia, retrognathia, a broad nasal bridge, an abnormally large or ‘beak-shaped’ nose, a narrow high-arched palate, a hypoplastic maxilla and a small mouth opening are considered as the main craniofacial reasons for laryngoscopy; these factors cause intubation difficulty in this patient group.

Hennekam RC. Bibliography on Rubinstein Taybi syndrome. Am J Med Genet. 1990;6:77–83. doi: 10.1002/ajmg.1320370614.

Cervical hyperkyphosis can be seen in 62% of patients with RTS, while scoliosis can be seen in 38%. Such vertebral anomalies may make it difficult to provide a suitable position during intubation and airway control in patients.

Park CH, Park KH, Choi BY. Management of Anesthesia for Rubinstein-Taybi syndrome. Korean J Anesthesiol. 2012;63:571–2. doi: 10.4097/kjae.2012.63.6.571.

Another important feature of the syndrome that may affect the airway management is the risk of aspiration. Hereditary tracheal stenosis, abnormal pulmonary lobulation, excessive mucus secretion and gastroesophageal reflux increase the risk of aspiration in these patients.

Loomba RS, Geddes G. Tricuspid atresia and pulmonary atresia in a child with Rubinstein-Taybi syndrome. Ann Pediatr Cardiol. 2015;8:157–60. doi: 10.4103/0974-2069.154151.

Heart defects are present in 24–38% of patients with RTS. The large part of anomalies first identified in patients with RTS in 1964 consisted of isolated lesions, such as the atrium septum defect, ventricular septum defect, patent ductus arteriosus, coarctation of the aorta, pulmonary valve stenosis, bicuspid aorta, aortic valve stenosis, vascular rings and conduction abnormalities.
Because succinylcholine, neostigmine and atropine will increase the risk of arrhythmia, particularly in patients with heart defects, the use of a rocuronium–sugammadex combination may be a good alternative.