Difficult Airway Management in a Patient With Nicolaides-Baraitser Syndrome Who Had a Small Jaw and Limited Mouth Opening

Abstract

Nicolaides-Baraitser syndrome (NCBRS) is a rare congenital genetic disorder characterized by distinctive facial features similar to Treacher Collins syndrome (TCS). We report the first case of successful nasal fiberoptic intubation in a patient with NCBRS with micrognathia and limited mouth opening due to trismus. A 9-year-old girl with NCBRS and dental caries was scheduled to undergo general anesthesia for a dental extraction. Initial attempts at oral intubation using a video laryngoscope were unsuccessful. However, subsequent attempts at nasal intubation using a flexible fiberoptic scope were successful. This report highlights that patients with NCBRS may present with difficult airways to manage and intubate.

Nicolaides-Baraitser syndrome (NCBRS) is a very rare congenital genetic disorder with the characteristic findings of developmental delay, dysmorphic facial features, seizures, small stature, and sparse hair.¹ Herein, we present the first anesthetic report of a patient with NCBRS who had micrognathia, limited mouth opening, and a difficult airway that was successfully managed and nasally intubated with a flexible fiberoptic scope (FS) during general anesthesia for dental treatment.

CASE REPORT

The patient was a 9-year-old female (height, 123 cm; weight, 25 kg; body mass index, 16.5 kg/m²) scheduled for extraction of the lower right first molar due to dental caries under general anesthesia. She had a history of epilepsy and distinctive facial features, such as micrognathia and microtia, which led to an initial diagnosis of Treacher Collins syndrome (TCS). However, subsequent genetic testing conducted in 2016 established the definitive diagnosis of NCBRS. She had previously undergone multiple surgeries related to NCBRS, including placement and removal of a mandibular expander to treat mandibular hypoplasia, as well as palatoplasty and closure of an oronasal fistula secondary to her cleft palate, all under general anesthesia via a variety of airway management techniques (Table). The patient had auditory and intellectual disabilities with developmental delay and functioned at a psychological age approximating 6 years. As such, general cooperation was difficult necessitating the use of general anesthesia for dental care.

Multiple Surgeries, All Under General Anesthesia via a Variety of Airway Management Techniques

Age	Operative method	Mouth-opening	Airway management
0 mo	Gastroesophagostomy	No record	Oral intubation
1 mo	Laparoscopic fundoplication, Gastrostomy	No record	Oral intubation
1 mo	Balloon dilatation, Tracheotomy	No record	Oral intubation
1 y 2 mo	Laparoscopic fundoplication	No record	Tracheotomy
2 y 8 mo	Mandible extension surgery	1.5 cm	Tracheotomy
2 y 9 mo	Extender removal, Plate fixing	No record	Tracheotomy
3 y 2 mo	Palatoplasty	2 cm	Tracheotomy
6 y 3 mo	Closure of a oronasal fistula	1–1.5 cm	Nasal intubation (FS)
6 y 11 mo	Closure of gastrostomy	1 cm	Oral intubation (AWS)

Her clinical evaluation revealed significant mandibular hypoplasia, retrognathia, and trismus with a maximum interincisal distance of ∼1 cm. She had also been formally diagnosed with obstructive sleep apnea and moderate adenoid hypertrophy. Therefore, she was considered high risk for being extremely difficult to mask ventilate and intubate.

The developed anesthetic plan for this patient included a controlled mask induction to verify the ability to ventilate the patient prior to continuing. If mask ventilation was possible, even if requiring 2 anesthesiologists, a muscle relaxant would be administered. However, if mask ventilation proved difficult, then induction would be halted, and the operation cancelled.

The patient presented appropriately NPO on the day of surgery, and no premedication was administered. After entry into the operation room and placement of standard anesthetic monitors (temperature probe, pulse oximeter, electrocardiogram, capnography, and noninvasive blood pressure cuff), mask induction was performed with oxygen (33%), nitrous oxide (66%), and sevoflurane (5%). Once she lost consciousness, we attempted to provide ventilatory assistance as the patient continued breathing spontaneously and were successful. Airway adjuncts (ie, oropharyngeal or nasopharyngeal airways) were not utilized due to her trismus and bleeding risks from the adenoid hypertrophy. Next, following the intravenous administration of fentanyl (25 μg) and rocuronium (10 mg), controlled mask ventilation was easily performed by 2 anesthesiologists. The initial oral intubation attempts using a Pentax-AWS (Airway Scope, Hoya Corporation, Tokyo, Japan) video laryngoscope were unsuccessful due to the patient's severe trismus. A following attempt to orally intubate using a flexible FS (Olympus Corporation, Japan) was also unsuccessful. Finally, we attempted a fiberoptic nasal intubation using the flexible FS with 2.8 mm of the scope extending beyond the distal end of the nasal endotracheal tube facilitating visualization and placement without causing trauma to the nasal mucosa and hemorrhage. Despite poor visibility due to the hypertrophic adenoids, the patient was successfully intubated with a 5.0-mm endotracheal tube using the FS (Figure). General anesthesia was maintained intraoperatively with oxygen (40%), nitrous oxide (60%), sevoflurane (2%), and a fentanyl bolus (25 μg). The patient was extubated awake without any complications following successful completion of the surgical procedure.

(a) Intraoral image showing significant trismus and carious lower right first molar. (b) Lateral view of the patient's face demonstrating mandibular micrognathia and retrognathia. (c) Limited mouth opening (∼1 cm) under general anesthesia.

NCBRS is a very rare congenital genetic disorder characterized by thinning hair, characteristic facial features, microcephaly, intellectual disability, enlarged interphalangeal joints, enlarged distal phalanx, and testicular disorders.¹ The characteristic facial features and interphalangeal joint enlargement become more prominent after 6 years of age, often leading to definitive diagnoses as established by genetic analysis and confirmation of SMRCA2 heterozygosity due to missense mutation. To the best of our knowledge, this is the first case report of the anesthetic management for a patient with NCBRS.

Previous reports indicate that TCS increases the risk of a difficult airway due to factors such as mandibular hypoplasia, mandibular retrognathia, and trismus. These same factors, which can all complicate the ability to ventilate and intubate patients with TCS, were noted here.^2–4 Therefore, like patients with TCS, patients with NCBRS should be suspected of being high risk for difficult airway management.

In conclusion, anticipating and preparing for difficult airway management is essential when providing anesthesia for patients with NCBRS.

This research was originally published in the Journal of the Japanese Dental Society of Anesthesiology. 2019;47(3):107–109.