An 8-yr-old male with Rubinstein-Taybi syndrome was admitted to our maxillofacial surgical ward as a day case. It was decided that he should be managed under general anaesthesia because his mental retardation, connected with the genetic abnormality, resulted in a lack of co-operation.
The patient's medical record revealed that his birth was at full term, following an uncomplicated pregnancy and normal vaginal delivery. The Apgar score was normal, but after just a few days his respiratory problems started. The child had a history of recurrent respiratory infections and had spent the majority of his life in the hospital nursery. Many different examinations were conducted in an attempt to find the reason for his frequent respiratory infections, but without result. The manifestations of the Rubinstein-Taybi syndrome in this patient were mental retardation, broad thumbs, large toes and craniofacial abnormalities with an arched palate, micrognathia and recurrent respiratory infections. In this particular case, there was no congenital heart disease, which is reported to occur in one-third of cases . His general condition at the time of admission to the ward was good. On physical examination, there was no evidence of lung infection or cardiological dysfunction. The indication for admission was the need for extraction of an abnormally positioned tooth and to take impressions for further orthodontic treatment.
Special attention was paid to the possibility of difficulties in airway management, and the risks of aspiration pneumonia and of cardiovascular dysfunction during anaesthesia. Because we suspected that tracheal intubation would be difficult, we decided to anaesthetize and intubate the infant without muscle relaxants using propofol and remifentanil. Intravenous (i.v.) atropine was given for premedication. After preoxygenation, a continuous infusion of remifentanil 0.5 μg kg−1 min−1 (12 mL h−1) was started. Anaesthesia was induced with propofol 3.0 mg kg−1 (60 mg) and endotracheal intubation was performed successfully. A continuous infusion of propofol 15 mg kg−1 h−1 was started and, after 30 min, reduced to 10 mg kg−1 h−1 until the end of surgery. The remifentanil infusion was maintained at 0.25 μg kg−1 min−1 (6 mL h−1). The lungs were ventilated with a mixture of 50% oxygen in air. Anaesthesia, which was uneventful, lasted for 75 min. Throughout the procedure, the patient remained haemodynamically stable. No dysrhythmias were observed, non-invasive arterial pressures were 132-99/87-47 mmHg and the heart rate was 119-153 beats min−1. SpO2 remained in the range 98-100%. No complications were observed in the perioperative period.
The Rubinstein-Taybi syndrome, described in 1963, is a well-defined, rare congenital syndrome characterized by several morphological abnormalities and clinical features that may complicate the anaesthetic management of these patients . More than 250 cases have been reported. The variability among affected individuals is surprisingly great. These patients can have broad thumbs but not broad toes, broad toes but not broad thumbs, and neither broad thumbs nor broad toes. Important aspects for the anaesthesiologist are the possibility of difficulty in tracheal intubation because of the craniofacial abnormalities, the tendency to oxygen desaturation because of oxygen dependence and respiratory disease, and the high risk of cardiac decompensation because of congenital heart disease and mild cardiac failure. There is also a high risk of apnoea; respiratory obstruction and respiratory failure postoperatively should be considered. Various renal defects are present in almost 50% of patients.
There are a few previous reports of anaesthesia in patients with Rubinstein-Taybi syndrome pointing out difficulties with airway management and multiple cardiac dysrhythmias occurring during and after anaesthesia . Stirt anaesthetized one child several times and advised the cautious use of succinylcholine, neostigmine and atropine in these patients. Bozkirli and colleagues performed general anaesthesia in an infant using inhalation of oxygen, nitrous oxide and sevoflurane supplemented with atracurium . Critchley and colleagues described successful anaesthetic management of a 5-month-old infant using general anaesthesia in combination with a caudal block (using bupivacaine 0.125%). They employed thiopental, succinylcholine, nitrous oxide and isoflurane . Other reports by Japanese investigators concerned the use of sevoflurane without muscle relaxant for such patients . We decided to use total i.v. anaesthesia.
The use of propofol and remifentanil without muscle relaxants for brief ambulatory surgical procedures has been described ; this method can be considered when morphological abnormalities, together with maxillofacial surgery, may influence the respiratory function of the patient. Deep analgesia achieved by using remifentanil protected the patient from unpredictable cardiovascular responses, e.g. dysrhythmias caused by tracheal intubation or intensive surgical stimuli. The short duration of action of the opioid used and avoidance of muscle relaxants secured an adequate respiratory function after anaesthesia.
Department of Anaesthesiology and Intensive Therapy; Medical University of Lodz; Lodz, Poland
Department of Maxillo-Facial Surgery; Medical University of Lodz; Lodz, Poland
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