Unique airway finding in a case of Pfeiffer syndrome and its management.

Sir,

Pfeiffer syndrome is a rare craniofacial anomaly with an incidence of 1 in 100,000 births worldwide. It is rare in the Asian population, with only a few cases reported. The diagnosis of Pfeiffer syndrome is based on the presence of craniosynostosis and abnormal thumbs and/or first toes. It occurs due to mutations of fibroblast growth factor receptor (FGFR) genes 1 and 2.[12]

A 42 kg, 22-year-old woman, a diagnosed case of Pfeiffer syndrome, was posted for septoplasty for correction of Deviated Nasal Septum (DNS). She gave a history of difficulty in breathing and had exophthalmos, midfacial hypoplasia, protruding mandible, small nose, broad thumbs, and big toe with deviation away from other digits. Her brother too had similar features.

Difficult Bag Mask Ventilation and intubation was anticipated and a difficult airway cart was prepared. Inhalation induction without muscle relaxation was planned. In the operation theatre, a 20 G IV line was secured, standard monitors were attached and 1 mg midazolam and 40 μg fentanyl were given intravenously. After preoxygenation for 3 min, anesthesia was induced with incremental doses of sevoflurane in 100% oxygen. Under deep anesthesia, direct laryngoscopy revealed a Cormarck and Lehane grade IV view, which improved to grade III after optimum external laryngeal manipulation. A membranous laryngeal web was also seen posteriorly. Tracheal intubation with a 6.5 mm ID cuffed endotracheal tube (ETT) mounted on a stylet was not successful. A bougie was inserted under vision and a 6 mm ID ETT could be rail-roaded over it. Subsequently, the patient was given atracurium 25 mg and fentanyl 20 μg intravenous. Anesthesia was maintained with sevoflurane in oxygen and nitrous oxide to achieve a MAC of 1 and ventilator settings were adjusted to achieve normocapnia. The surgery lasted for 45 min. Diclofenac sodium was administered intramuscularly for postoperative analgesia. Trachea was extubated when the patient was fully awake. The patient was discharged 2 days later [Figure 1].

Figure 1

A patient with Pfeiffer syndrome

Upper airway obstruction may be present in patients with midface hypoplasia and secondary nasal obstruction due to choanal atresia. Tracheal anomalies, such as tracheal cartilaginous sleeve, have been reported in severe cases.[3] Our patient had complaints of dyspnea, which was presumed to be due to DNS and upper airway obstruction due to facial anomalies. We planned tracheal intubation under inhalation anesthesia with arrangements for surgical airway as a rescue measure as varied tracheal and facial anomalies can be present in this syndrome.[45]

The patient had a Cormack and Lehane grade III laryngoscopic view, as expected, but there was an unexpected laryngeal web, which has not been reported in a case of Pfeiffer syndrome till date. We had planned an inhalation induction and tracheal intubation with a small ETT, without muscle paralysis, but could not intubate the trachea with a 6.5 mm ID ETT. A bougie could be inserted (although with some difficulty) and a 6.0 mm ID ETT was successfully rail-roaded over it.

Syndromes with craniofacial anomalies, such as Pfeiffer's, are very rare and can be a challenge to anesthesiologists. These can be managed successfully with meticulous planning and execution.