Abstract
Introduction
Robin Sequence (RS) involves the clinical triad of micrognathia, glossoptosis and cleft palate. There is a spectrum of severity, but most neonates with RS have upper airway obstruction, resulting in severe obstructive sleep apnea, sometimes requiring surgical interventions such as tongue-lip adhesion, mandibular distraction, or tracheostomy. We present an infant with RS and severe obstructive sleep apnea which was managed with supplemental oxygen.
Report of Case
Our patient was born at 39 weeks gestation with RS. He had a normal DNA microarray. He was discharged after a 3 week NICU hospitalization for poor feeding. Over the next 2 months, he had poor weight gain and worsening obstructive breathing and was evaluated by craniofacial surgery at that time. Room air polysomnography (PSG) was recommended and revealed an AHI of 21, REM AHI of 48, supine AHI of 25, prone AHI of 19, mean SPO2 of 98%, minimum SPO2 of 61%, and normal capnography with 0% of the time spent > 50 mmHg. A repeat sleep study on 1/4LPM oxygen in the supine position revealed an AHI of 1.7, mean SPO2 of 99%, minimum SPO2 of 92%, and normal capnography. He was discharged on supplemental oxygen. At 4 months of age, he had good weight gain. At 10 months of age, room air PSG revealed persistent OSA with an AHI of 7.2, REM AHI of 21, mean SPO2 of 97%, minimum SPO2 of 81%, and normal capnography. At age 3 yrs, his PSG on room air showed resolution of his OSA with an AHI of 0.6, mean SPO2 of 97%, minimum SPO2 of 87% and normal capnography.
Conclusion
This case illustrates the spectrum of severity of RS and the utility of low flow oxygen to treat OSA in this patient population.
Pierre Robin sequence and obstructive sleep apnea
