Anesth Pain Med 2011; 6: 89～92 ￭Case Report￭
Anesthetic management of a neonate with Antley-Bixler syndrome -A case report-
Department of Anesthesiology and Pain Medicine, Sanggye Paik Hospital, Inje University College of Medicine, Seoul, Korea
Young-Suk Kwon, Jae Keun Jo, Yun-Hee Lim, Jun Heum Yon, and Kye-Min Kim
Antley-Bixler syndrome is a congenital anomaly of multiple bones has been reported to be approximately 45−50% [2]; and cartilage, and this was first reported by Antley and Bixler in considering the potential risk of respiratory complications in 1975. It is characterized by craniosynostosis, midface hypoplasia this syndrome, anesthesiologists should be vigilant during with choanal stenosis and atresia, radiohumeral synostosis and femoral bowing. This is sometimes accompanied by cardiac, renal, general anesthesia, especially in terms of airway management. gastrointestinal and genital malformations. The risk of respiratory In addition, careful attention is needed during patient posi- distress is high in the infants with this syndrome, and this is most tioning under anesthesia to prevent accidental injuries. commonly caused by choanal stenosis and atresia. Careful anes- thetic management is needed for these infants because of the Here we report a case of general anesthesia for a neonate potential risk of a difficult airway and respiratory complications. We with ABS who underwent neurosurgical operations for the report here on our experience with the anesthetic management of correction of congenital dermal sinus and hydrocephalus. a neonate with Antley-Bixler syndrome and we review the relevant literature. (Anesth Pain Med 2011; 6: 89∼92) CASE REPORT Key Words: Anesthesia, Antley-Bixler syndrome, Craniosyno- stosis. Elective surgery for the primary closure of congenital dermal sinus in the coccygeal area was scheduled for a twenty three-day-old, female neonate with Antley-Bixler syndrome Antley-Bixler syndrome (ABS) is a congenital malformation (ABS). She weighed 3.3 kg and had been delivered by syndrome which was first described in 1975. It is a very rare cesarean section at 40 weeks' gestational age. She had cranio- disorder, characterized by severe congenital craniofacial and synostosis and midface hypoplasia with frontal bossing and skeletal anomalies, including craniosynostosis, brachycephaly, proptosis (Fig. 1). As well, she exhibited humeroulnoradial midface hypoplasia, choanal atresia or stenosis, radiohumeral synostosis of both elbows, lateral dislocation of left first synostosis and femoral bowing [1]. It is sometimes accom- metatarsal joint, metatarsus adductus of left foot, camptodactyly panied with abnormality of external genitalia, congenital of a right finger, butterfly vertebra of C3 and block vertebrae fracture of femur or humerus and cardiac malformation or of C7-T1. In otolarygologic evaluation, the choana was open renal malformation [2]. but was too narrow for either a fiber-optic scope or nelaton Patients with ABS have an increased risk of respiratory catheter to pass through. A narrow external auditory canal and distress due to choanal stenosis, choanal atresia or midface malformations of both the ossicles and the inner ear were hypoplasia. The mortality rate from respiratory complications detected on both sides. Bilateral sensory neural hearing loss was revealed through otoacoustic emission test, auditory Received: September 28, 2010. Revised: 1st, October 15, 2010; 2nd, November 9, 2010. brainstem response and auditory steady-state response. In the Accepted: November 9, 2010. genitourinary system, a perineal body was not seen because Corresponding author: Kye-Min Kim, M.D., Ph.D., Department of Anes- both labia minora made a fourchette in the anal area. On thesiology and Pain Medicine, Sanggye Paik Hospital, Inje University College of Medicine, 761-1, Sanggye 7-dong, Nowon-gu, Seoul 139-707, MRI, abnormalities were detected in neither the vagina nor Korea. Tel: 82-2-950-1173, Fax: 82-2-950-1323, E-mail: kyemin@paik. uterus. On the basis of these clinical findings, she was ac.kr diagnosed as ABS.
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Fig. 1. The picture shows characteristic facial morphology of the patient with Antley-Bixler syndrome (brachycephaly, midface hypoplasia with frontal bossing and proptosis, low-set ear).
After birth, she was mechanically ventilated for one day due Vital Signs Inc., Totowa, NJ, USA). In spite of midface to respiratory distress and supplied with O2 through hood for hypoplasia, there was no problem in mask ventilation. Tracheal the following two days. Afterwards, signs of respiratory intubation was not difficult; she was intubated with armored difficulties were absent and arterial blood gas was within tube (internal diameter 3.0 mm). Cormack and Lehane grade normal range. Vital signs were well-maintained. There were no of laryngoscopic view was grade 2. After confirming the significant abnormalities in electrocardiogram nor chest x-ray. correct placement, the endotracheal tube was secured and 1.5 In transthoracic echocardiography, patent ductus arteriosus was mg of rocuronium was administered intravenously. Mechanical detected with good ventricular function. In brain CT, the third ventilation was applied with tidal volume of 40 ml and ventricle and both lateral ventricles were dilated. In abdominal respiratory rate of 20 per minute. Peak airway pressure was
CT, the shape of kidney was normal. Laboratory test on renal maintained about 17 cmH2O and SpO2 was maintained 100% function showed no abnormalities. during anesthesia. Anesthesia was maintained with sevoflurane
General anesthesia was planned for the primary closure of in 1.5 L/min of O2 and 2.5 L/min of air. congenital dermal sinus of the coccygeal area. Preoperatively, For surgery, the patient was carefully laid prone. Pads were an otolaryngologist examined the upper airway and anticipated placed under the patient’s forehead and chin. The surgical that intubation would not be difficult. In preoperative airway procedure was uneventful and at the end, neuromuscular evaluation by the anesthesiologist there was no limitation in blockade was reversed with pyridostigmine and glycopyrrolate neck mobility and in mouth opening. The neonate fasted for 6 and spontaneous breathing returned readily. She was sent to hours. About 30 minutes prior to the induction of general neonate intensive care unit, still with the endotracheal tube. anesthesia, glycopyrrolate 0.04 mg was injected intramuscularly. Total anesthetic time was 75 minutes. In ICU, intermittent
On arrival in the operating room, electrocardiogram and a mandatory ventilation was applied. SpO2 was maintained within non-invasive blood pressure cuff were placed. Peripheral pulse the range of 98−100% and no abnormality was observed in oxygen saturation (SpO2), end-tidal CO2 and airway pressure arterial blood gas analysis. On the following day the endo- were monitored to assess the airway and respiratory system. tracheal tube was removed. She did not have any respiratory Before the induction of anesthesia, various sizes of endotra- complications. cheal tubes and laryngeal airway masks were prepared. We Forty two days after this surgery, she underwent a ventri- also prepared surgical airway devices in the case of an culoperitoneal shunt due to hydrocephalus. General anesthesia emergency situation caused by an unexpectedly difficult airway. was carried out in a similar way to the previous one, except
Preoxygenation was performed with 100% O2. Anesthesia in the supine position, and extubation was done at the end of was induced with the inhalation of 8 vol% of sevoflurane in anesthesia in the operating room. No respiratory complications Ⓡ O2 via an infant-size facial mask (Flexible Face Plate Mask , occurred. One week after the ventriculoperitoneal shunt, she Young-Suk Kwon, et al：Anesthetic care of Antley-Bixler syndrome 91 was discharged. upper airway and congestion of nasal mucosa. Therefore, the possibility of difficult airway and the increased risk of res- DISCUSSION piratory complications should be considered when anesthetizing patients with ABS. Careful airway management, including a This patient had craniosynostosis with mid face hypoplasia, thorough preoperative evaluation, is essential. Preoperative multiple skeletal anomalies such as humeroulnoradial synostosis sedation of patients with choanal atresia/stenosis should be and camptodactyly and a slight abnormality in the external avoided if possible. If it is really needed, sedation should be genitalia. On the basis of these clinical manifestations, she was done very carefully. Airway obstruction, desaturation and lary- diagnosed with ABS. gospasm can occur during anesthetic induction. These patients After being introduced in 1975, ABS has been related to have an abnormal ventilatory response to carbon dioxide and genetic mutations. Mutations on fibroblast growth factor recep- therefore recovery of spontaneous ventilation as well as tor 2 gene (FGFR2) were identified in ABS patients [3,4] as emergence after sedative, narcotics and general anesthetic may well, mutations of cytochrome P450 oxidoreductase gene (POR) be delayed [8]. Preparation for the unexpected difficult airway [4-6] have been associated with this syndrome. Different is also important. In case of difficult airway, the alternative features were noted between these two distinctive genetic methods such as laryngeal mask airway, fiberoptic intubation abnormalities [4,7]: unlike the cases with the mutations of or tracheostomy can be useful. FGFR2, those with POR mutations present glucocorticoid Mortality of ABS patients can reach 80% in the first deficiency and high incidence of ambiguous genitalia [6]. This months of life [11]. Respiratory distress due to choanal is because cytochrome P450 oxidoreductase (POR) is the atresia/stenosis is a critical factor for mortality. In one report, electron donor for all microsomal cytochrome P450 enzymes, mortality secondary to respiratory complications was 54% in including the key enzymes in glucocorticoid and sex steroid the infants with ABS [12]. In another, first-year mortality due synthesis. In the ABS patients with POR mutations causing to respiratory causes was reported to be about 30% [13]. The disordered steroidogenesis, glucocorticorid supplementation is prognosis seems to improve with advancing age, and in addi- recommended during stressful situations [5]. tion, it can be improved by effective prevention of respiratory In the patients with upper airway abnormalities such as complications and treatment of craniosynostosis. Anatomical choanal atresia/stenosis, anesthetic plan depends on the pre- stenosis of airway such as choanal atresia and upper airway sence of pulmonary hypertension and cardiac dysfunction. obstruction can cause apnea in ABS [14]; ventilatory support Preoperative evaluation and perioperative management for those is vital for such case. Craniofacial abnormalities may lead to conditions are very important. But, even patients without obstructive sleep apnea from framework abnormalities [15]. In pulmonary hypertension and cardiac dysfunction can still have this patient, we kept her intubated state postoperatively because high risk of perioperative complications [8]. she had a previous history of respiratory distress and the In this case, only an inhalation agent was used for the potential for obstructive sleep apnea. During preoperative induction of anesthesia, and a muscle relaxant was admini- evaluation, the possibility of glucocorticoid deficiency can be stered after confirming the placement of endotracheal tube. We considered, specifically for the patients with POR deficiency. experienced no difficulty with mask ventilation or laryngo- In such cases, it is recommended to supplement glucocorticoid scopic intubation, as in the previous case reports [2,9]. Also, during perioperative period. Clinical signs and laboratory perioperative respiratory complications did not occur. Bilateral findings for the glucocorticoid deficiency were not found in choanal atresia, however, could be lethal because the airway this patient. will be completely obstructed when the patient closes their Careful positioning is another issue that should not be mouth. To alleviate the airway obstruction, an oral airway or overlooked. Because facial shape is different from normal one, endotracheal tube should be inserted to prevent the tongue absence of compression of eyeballs and nose should be from making a tight seal with the pharyngeal wall [10]. confirmed after prone positioning. In addition, gentle care is Choanal atresia/stenosis and midface hypoplasia in ABS can required in positioning to protect the anomalous extremities lead to difficulties in mask ventilation during anesthetic from unintentional injuries. induction and after extubation. Furthermore, postoperatively, ABS has many congenital abnormalities specially associated airway infection can occur easily due to abnormalites in the with bones and cartilages, and difficulties in airway manage- 92 Anesth Pain Med Vol. 6, No. 1, 2011 ment and respiratory complications can be associated with this syndrome caused by compound heterozygous mutations of the syndrome. Therefore, thorough preoperative evaluations and cytochrome P450 oxidoreductase gene. Eur J Pediatr 2009; 168: 877-80. cautious airway management are needed for patients with this 7. Reardon W, Smith A, Honour JW, Hindmarsh P, Das D, Rumsby syndrome. Because of multiple anomalies, careful positioning is G, et al. Evidence for digenic inheritance in some cases of also required. Antley-Bixler syndrome? J Med Genet 2000; 37: 26-32. 8. Blum RH, McGowan FX Jr. Chronic upper airway obstruction and cardiac dysfunction: anatomy, pathophysiology and anesthetic REFERENCES implications. 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