Medical advances in the past several decades have allowed many patients with severe congenital diseases to survive to adulthood. Such patients now present for medical care outside of the specialty pediatric hospitals that have the most experience with their uncommon conditions. With little warning, anesthesiologists may be asked to manage patients with conditions historically within the expertise of the pediatric anesthesiologist. Little has been published in particular about the anesthetic management of adults with Pierre Robin sequence (PRS), a relatively common abnormality of craniofacial development. We present a unique case of urgent anesthetic management in a young adult with PRS, severe juvenile scoliosis, and respiratory failure. The patient gave written consent for this report to be published.
A 31-year-old woman with PRS and severe juvenile scoliosis was admitted to the intensive care unit at our institution, an adult tertiary care medical center, for progressive hypercapnic respiratory failure. The anesthesia service was consulted regarding impending need for tracheal intubation because of severe respiratory acidosis and declining mental status despite bilevel positive airway pressure support.
The patient used bilevel positive airway pressure at home for cor pulmonale secondary to restrictive lung disease from juvenile scoliosis and chronic hypoventilation and obstructive sleep apnea from PRS. She had previously undergone spinal instrumentation for severe scoliosis. This surgery had failed to slow the progression of her pulmonary dysfunction, which had significantly worsened over the 4 months before admission. Her brother also had PRS and a history of malignant hyperthermia and failed intubation.
On examination, the 42-kg patient was wearing a bilevel positive airway pressure mask and was obtunded. Severe kyphoscoliosis that involved her cervical and thoracic spine was obvious. Her mouth opening was severely restricted with an interincisor distance of approximately 1 cm. Thyromental distance was severely decreased, measuring approximately 1.5 cm (Fig. 1). Neck mobility was also severely limited. Her neck was thin with an easily palpable cricothyroid membrane that was displaced to the right of midline.
Her arterial blood gas showed pH 7.16, PaCO2 >102 mm Hg, PaO2 75 mm Hg, HCO3 44.5 mmol/L, base excess 10 mmol/L, and oxygen saturation 88% on FIO2 0.35. Computed tomography and radiography of the chest demonstrated right middle and lower lobe collapse and an extremely restrictive chest cavity (Figs. 2–4).
IV lorazepam at 0.5 mg had been given for anxiety approximately 2 hours before. Flumazenil at 0.2 mg was administered with subsequent improvement in her mental status and arterial blood gas to pH 7.35, PaCO2 77 mm Hg, PaO2 81 mm Hg, HCO3 42 mmol/L, base excess 13 mmol/L, and oxygen saturation 94%.
After an urgent family conference, it was decided that the patient undergo tracheostomy because of respiratory failure and the need for long-term assisted ventilation. The anesthesia, critical care, and surgical teams met and determined that tracheal intubation in the operating room rather than the intensive care unit was the safest approach. The patient and family were advised that an awake tracheostomy might be necessary.
The patient was taken to the operating room with supplemental oxygen via a nasal cannula; standard American Society of Anesthesiologists monitors were placed. Because of anticipated difficulties with mask ventilation and intubation, and in accordance with American Society of Anesthesiologists Practice Guidelines for Management of the Difficult Airway,1 an awake fiberoptic intubation was planned. An otolaryngologist and the surgical equipment necessary for an emergent tracheostomy were present. Because of her family history of malignant hyperthermia, a nontriggering, general anesthetic was planned and dantrolene was immediately available in the operating room. The patient was given a 1-μg/kg IV bolus of dexmedetomidine over 10 minutes followed by an infusion of 0.7 μg/kg/h for anxiolysis and comfort. A remifentanil IV infusion at 0.07 μg/kg/min was added to enhance comfort and suppress airway responses to instrumentation. IV glycopyrrolate at 0.2 mg was given for an antisialagogue effect. Topical anesthesia of the oropharynx and nasopharynx was achieved with 10 mL of 2% atomized lidocaine. After application of oxymetazoline nasal spray, cotton-tipped applicators soaked in 2% lidocaine were placed in bilateral nares followed by a 24-French nasal trumpet covered in lidocaine gel in the right nare. A transtracheal block was performed with 3 mL of 1% lidocaine. A warmed and lubricated 6.0 endotracheal tube was advanced into the right nare. Once breath sounds could be heard through the lumen of the endotracheal tube, a flexible fiberoptic bronchoscope was advanced through the tube. The glottis was clearly visualized, and the endotracheal tube was easily passed over the bronchoscope into the trachea and secured.
General anesthesia was induced with propofol and maintained with propofol and remifentanil infusions. The tracheostomy procedure was uneventful, and the patient was subsequently taken back to the intensive care unit where she was closely monitored according to the Malignant Hyperthermia Association of the U.S. recommendations for any signs or symptoms of delayed malignant hyperthermia, which did not develop.
Over the next few days, ventilator support was weaned and the patient required only nocturnal support. The patient was anxious to return to college, where she was taking classes in preparation for applying to pharmacy school. The neurosurgical service was consulted because the patient and family requested evaluation for another spine operation to improve her pulmonary mechanics and quality of life. Pulmonary function tests demonstrated forced vital capacity 0.35 L (12% predicted) and forced expiratory volume in 1 second 0.27 L (11% predicted). Because of her previous spine surgery, severe chest deformity, poor pulmonary function, and right heart failure, she was not deemed a candidate for reoperation. She was subsequently discharged home with a nocturnal ventilator.
This unique case sheds light on the complexity of airway and anesthetic management in a chronically ill young adult with severe systemic manifestations of congenital disease. It also highlights that anesthesiologists who care primarily for adults should still be familiar with common congenital syndromes.
PRS is a constellation of craniofacial abnormalities that classically include micrognathia, glossoptosis, and a “U”-shaped cleft palate resulting in upper airway obstruction.2 The incidence of PRS ranges from 1:5000 to 1:85,000.3 A sequence occurs when a single developmental defect leads to a series of subsequent defects. Micrognathia is the primary abnormality leading to the other subsequent manifestations of the PRS.2
The association among PRS, airway obstruction, and difficult airway management is well described.4 PRS can be part of a syndrome or isolated (nonsyndromic). The most common syndromes associated with PRS are Stickler syndrome and chromosome 22q11.2 deletion syndrome, although >20 other syndromes have been less commonly associated with PRS.5 Because of the heterogenous pathogenesis of PRS, it is not surprising that the natural course of PRS is also heterogenous and dependent on the underlying cause.2 There is a common misconception that the difficult airway associated with PRS exhibits “mandibular catch-up growth” and thus resolves as the child grows. However, this is only the case in children with isolated PRS secondary to mechanical constriction or deformation in utero because the mandible would be intrinsically normal with normal growth potential.2,6 Like Treacher Collins syndrome and certain other craniofacial development syndromes, the facial deformities associated with PRS do not necessarily improve with age. As demonstrated by this case, airway management in adult patients with PRS may still be extremely difficult.
Upper airway obstruction in PRS can be managed in a variety of ways depending on severity, including placing an infant patient prone, placing a nasopharyngeal airway, performing tongue–lip adhesion, mandibular distraction osteogenesis, and/or tracheostomy.7,8 Distraction osteogenesis was not a commonly used treatment option for PRS in the 1980s when this patient was an infant.8 Without treatment, these patients can succumb to asphyxia, hypoxia, respiratory failure, cor pulmonale, and malnutrition.5 In our patient’s case, coexisting and apparently unrelated juvenile scoliosis additionally compromised pulmonary function. Based on our patient’s limited mouth opening, neck torsion, decreased thyromental distance, and limited neck extension, intubation was anticipated to be very difficult. Because of her extremely limited respiratory reserve, an awake nasal fiberoptic intubation maintaining spontaneous ventilation was deemed to be the safest option in the event of prolonged intubation attempts. Furthermore, in the setting of her right heart failure, it was essential to avoid worsening hypercarbia and hypoxia, which would increase pulmonary vascular resistance and right ventricular afterload. Dexmedetomidine was chosen for conscious sedation because it causes little respiratory depression. Remifentanil was added to minimize the potential for coughing and provide additional anxiolysis.
Although successfully used to aid intubation in other patients with PRS, supraglottic devices were not a possibility in our patient given her very limited mouth opening and neck torsion.9,10 Reassuringly she had a thin neck with a palpable cricothyroid membrane, making a surgical airway a viable rescue option.
PRS is not commonly associated with juvenile scoliosis nor malignant hyperthermia. Although PRS is frequently associated with congenital syndromes, to our knowledge, our patient did not have a diagnosed syndrome linking her juvenile scoliosis, PRS, and susceptibility to malignant hyperthermia. Interestingly, her brother similarly had PRS, juvenile scoliosis, and a history of malignant hyperthermia possibly suggesting that these conditions could be genetically related.
This case report shows how an awake fiberoptic intubation successfully secured the airway of an adult patient with respiratory failure and cor pulmonale from PRS and juvenile scoliosis. Because patients with severe congenital diseases increasingly survive into adulthood, it is advised that nonpediatric anesthesiologists familiarize themselves with the long-term consequences of common congenital diseases and the anesthetic hazards of these conditions. Proper planning and multidisciplinary communication well in advance of planned surgical procedures are important so that patients receive the safest possible care.
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