1502 Severe Upper Airway Obstruction in a Pediatric Patient with Pierre Robin Syndrome: Incomplete Resolution After Surgical Management

Abstract Introduction Pierre Robin syndrome (PRS) is characterized by micrognathia or retrognathia, glossoptosis, and cleft palate. Over 85% of patients have significant upper airway obstruction (UAO) with sleep-disordered breathing. Management of UAO in patients with PRS involves a multidisciplinary approach and often requires surgical management. The authors present a case of persistent obstructive sleep apnea (OSA) in a pediatric patient with PRS. Report of case Patient is a 7-year-old female with PRS with micrognathia, glossoptosis, and cleft palate, DiGeorge syndrome, and history of biliary embryonal rhabdomyosarcoma with complete resolution after chemotherapy. She was first diagnosed with severe OSA at one month of age with respiratory disturbance index of 176/hour. She underwent bilateral mandibular distraction at two months old. Repeat polysomnogram (PSG) showed persistent severe OSA, although reduced in severity with obstructive apnea-hypopnea index (oAHI) of 54.7/hour. Titration PSG was completed with optimal control on bilevel positive airway pressure (BPAP) at 13/9 cm H2O. Repeat laryngoscopies showed improvement in glossoptosis and normal subglottis and trachea. However, given her persistent severe OSA and BPAP pressure intolerance, she underwent a second bilateral mandibular distraction at 3 years old. Repeat PSG showed persistent severe OSA with further reduction in oAHI to 13.41/hour. After multidisciplinary discussion, additional airway augmentation procedures were determined to not provide further benefit. Decision was made to proceed with cleft palate repair to facilitate improved speech and quality of life. She underwent palatoplasty at 4 years old and her initial post-operative PSG showed mild worsening of OSA with oAHI 21.12/hour. However, with continued healing and growth, repeat PSG at 6 years old shows improvement of OSA with oAHI 13/hour. Her OSA now remains well-controlled with optimal BPAP adherence. She continues to follow closely with speech therapy to improve articulation. Conclusion Mandibular distraction has become the mainstay of treatment for patients with PRS and severe UAO refractory to non-invasive treatment. Incomplete resolution of UAO after mandibular distraction is typically associated with infection, device failure, preoperative intubation, or laryngotracheomalacia, which this patient did not have. This case offers further understanding of the complexities of long-term management of patients with PRS and incomplete resolution of UAO after multiple surgical treatments. Support (if any)