S005: CASE REPORT: WHISTLING FACE SYNDROME AND CHALLENGES TO ANESTHETIC MANAGEMENT
Taimoor A Khan, MD; Demitri Podolski, MD; Jacqueline Peck, MD; Joe DiMaggio Children's Hospital
Introduction: This case report describes suspected Freeman-Sheldon Syndrome, also known as distal arthrogryposis type IIA, which is marked by joint and extremity abnormalities as well as microstomia, micrognathia, low-set ears, and down-slanting eye fissures . It is also characterized by a distinct orofacial abnormality of a small oral orifice, a puckered face, and an H shaped simple of the chin, hence the name ‘whistling face syndrome.’
Case Report: Primary cesarean section was conducted in an otherwise healthy mother for failed induction at approximately 38 weeks gestational age. The mother was critically late to prenatal care. The newborn upon delivery was noted to have a distinctly small mouth, hip and joint deformities, and high oxygen and PPV/CPAP requirements. There were unsuccessful intubation attempts in the delivery suite due to the malformation of the mouth. The patient was temporized on BiPAP and was eventually intubated at 2 hours of life via nasal fiber optic by an ENT and anesthesiologist which necessitated prone positioning.
A tracheostomy was placed successfully on day 6 of life to facilitate ongoing ventilatory requirements, and was adequate for ventilation for several days. On day 8 of life during tracheostomy exchange an accidental decannulation occurred and the trach was unable to be replaced. A 3.0 uncuffed endotracheal tube was placed into the tracheostomy site, achieving end-tidal CO2 and improving ventilation, and the patient was transported to the OR for exchange and management. A flexible fiber optic scope was again unable to pass the oropharynx. A styleted bougie capable of jet ventilation was used to exchange the uncuffed tube for a 3.5 Pediatric uncuffed tracheostomy tube. After replacing the tracheostomy tube, peak and plateau pressures increased and tidal volumes became difficult to achieve. An X-ray revealed a large right-sided pneumothorax which was rapidly addressed successfully with a pigtail chest tube. Ventilation parameters normalized, the trach was secured, and the patient was transported to the NICU for continued critical management.
Discussion: This case report demonstrates the airway, access, and anatomic challenges in syndromic newborns and need for interdisciplinary intervention to adequately address and manage the patient specific and iatrogenic issues that frequently arise in the care of these patients, which always have the potential to be unanticipated at delivery.