Anesthesia management in a patient of Apert syndrome.

Apert syndrome is autosomal dominant disease associated with multiple craniofacial and limb deformities. These children usually face many orthopedic, orthodental operative procedures. As anesthetist, we face difficulties in airway management due to mid-facial hypoplasia, craniosynostosis. We report a case of Apert syndrome which was referred to us for syndactyly release, focusing on the difficulties and complications related to it.

INTRODUCTION

Apert syndrome is a genetically inherited disease presenting as acrocephalosyndactyly. Corrective orthopedic procedures are commonly performed in these children, for improving the quality of life. Systemic nature of this condition often poses a challenge to anesthetists during such procedures. Though difficulty related to airway management is major concern, one should be aware of other complications and difficulties like bronchospasm, wheezing, and even difficulty in intravenous access. We report our experience in the anesthetic management of case of Apert syndrome, referred to us for syndactyly release.

CASE REPORT

A 1-year-old male child, a diagnosed case of Apert syndrome, born of full-term delivery, was referred to our Institution for left hand syndactyly release [Figures 1 and 2]. This child had midfacial hypoplasia involving maxillary and zygomatic bones with orbital proptosis, downsloping palpebral fissure, hypertelorism, and all limbs showed fusion of multiple digits. The patient was previously operated for coronal synostosis at the age of 7 months. He had repeated episodes of respiratory tract infection which was treated with intravenous antibiotics. He was not able to crawl and could not understand words, which was suggestive of delayed milestones for his age. No relevant family history was noted. Thorough systemic examination showed no other associated anomalies.

Figure 1

Fusion of all five digits of left hand (Dorsal aspect)

Figure 2

Fusion of all five digits of left hand (Ventral aspect)

Preoperative evaluation of this child revealed harsh breath sounds. So, nebulization was started a day prior to surgery. On the day of surgery, premedication was given with Inj. Midazolam (0.5 mg/kg) orally 1 hour before procedure for anxiolysis. Baseline vitals were recorded with noninvasive monitors like Electrocardiogram, Pulse oximeter, and noninvasive blood pressure. Inhalation induction was stared with O2, air, and sevoflurane. Intravenous access was difficult in this child due to limb deformity and repeated hospital admissions. 24 G I.V. cannula was secured on opposite limb after repeated attempts. Initially, airway was secured with 1.5 No. Laryngeal Mask Airway (LMA) but it was eventually changed to 2 No. LMA due to improper fitting. Axillary block was given in left upper limb by blind technique with 4 ml of 0.25% Bupivacaine. Anesthesia was maintained on O2, air, and sevoflurane with spontaneous respiration. Intraoperative vitals were stable. Duration of surgery was 45 minutes. At the end of surgery, LMA was removed when patient was wide awake.

DISCUSSION

Apert Syndrome was first described by the French pediatrician Eugene Apert in 1906.[1] It is a rare autosomal dominant disease with an incidence of around 1 per 160 000 live births.[2] Genetically, the defect is in chromosome 10 affecting fibroblast growth factor receptor 2 gene. This mainly affects digits and cranium causing fusion of multiple digits of both upper and lower limbs and premature fusion of cranial sutures.[3] These children also have other associated anomalies like cardiac defects, polycystic kidneys, and pyloric stenosis.

These children require a number of different operative procedures and Anesthetists face multiple problems while dealing with them, first of it being the airway management. Airway dysmorphism carries a risk of difficult mask ventilation and intubation due to mid face hypoplasia.[45] Children with Apert syndrome have profuse secretions with inability to clear these that may cause increase in airway irritability, higher incidence of bronchospasm, and repeated respiratory tract infection.[6] Craniofacial anomalies are often associated with airway obstruction, especially during sleep, and can cause obstructive sleep apnea,[78] and therefore are prone to becoming obstructed on induction and emergence. Preoperative evaluation and optimization is important in these patients. Airway adjutants like appropriate size airway, LMA, endotracheal tubes, and emergency tracheostomy kit has to be kept ready.[9] Use of regional anesthesia techniques as an adjuvant to general anesthesia help to decrease the requirement of opioids during intra- and post-operative period. This reduces the risk of airway obstruction. Regional anesthesia itself could be difficult in these patients due to anatomical variations in shoulder joint and related structures. Ultrasonography (USG)-guided regional anesthesia techniques may help us to overcome this problem.[10]

Through screening for associated anomalies like cardiac defects, polycystic kidneys and pyloric stenosis should be done preoperatively.[11]

Another challenge for the anesthetist is intravenous access. Limb deformity and multiple operative procedures make intravenous access more difficult in these patients. As a result, some anesthetists feel that for short procedures, e.g., change of dressings or computed tomography (CT) scans, intravenous access is not mandatory. In an emergency, an intraosseous or intramuscular route can be used.[5]

CONCLUSION

Dealing with a case of Apert syndrome is very challenging for anesthetist. So, through preoperative evaluation, a proper anesthesia plan as well as a backup for difficult airway management are very important in these patients.