Sleep-Disordered Breathing in an Infant With Achondroplasia and Foramen Magnum Stenosis.

Sleep-disordered breathing (SDB) is a frequently recognized comorbidity in infants and children with achondroplasia due to alterations in craniofacial and upper airway anatomy. Foramen magnum stenosis and cervicomedullary compression can be associated with SDB in this population, requiring prompt evaluation by multidisciplinary teams. Untreated SDB is associated with adverse cardiovascular, metabolic, and behavioral effects in children, necessitating early screening and treatment of underlying causes. Cervicomedullary compression is also associated with increased mortality and sudden infant death in infants with achondroplasia. Management of SDB in children with achondroplasia may involve a combination of neurosurgical intervention, adenotonsillectomy, and/or continuous positive airway pressure (CPAP). We recognize a need for increased physician awareness of the recommended screening guidelines to optimize health outcomes for children with achondroplasia. In this report, we describe a case of a five-month-old infant with achondroplasia and severe SDB diagnosed by polysomnography and was found to have moderate-to-severe foramen magnum stenosis identified by MRI. Subsequently, this infant underwent foramen magnum decompression, which improved the severe SDB and was followed up for five years. Our case illustrates the importance of early screening in infants with achondroplasia for SDB to prevent further sequelae.

Role of High Flow Nasal Cannula as a Novel Therapy for Treatment of Severe Obstructive Sleep Apnea in a Child With Neuroendocrine Hyperplasia of Infancy: A Case Report and Review of Literature.

Neuroendocrine hyperplasia of infancy is a rare form of pediatric interstitial lung disease presenting with hypoxemia, tachypnea, retractions, and persistent pulmonary crackles in the first year of life. As these children frequently require supplemental oxygen therapy and demonstrate nighttime hypoxemia, there is a concern for an increased prevalence of sleep-disordered breathing in this population, including obstructive sleep apnea. As untreated sleep-disordered breathing is associated with adverse developmental outcomes for children, it is essential to promptly diagnose and treat. However, treatment of obstructive sleep apnea is often challenging in children. In this report, we describe a case of a child diagnosed with neuroendocrine hyperplasia of infancy at 12 months of age who was subsequently found to have severe obstructive sleep apnea that persisted despite adenotonsillectomy. As continuous positive airway pressure was not well tolerated, the patient was initiated on a high-flow nasal cannula at nighttime, which resulted in improvement of his sleep apnea and daytime functioning with better adherence to treatment. Our case illustrates the importance of screening for sleep-disordered breathing in patients with neuroendocrine hyperplasia of infancy, as well as the utility of a high-flow nasal cannula as a novel, effective treatment for pediatric obstructive sleep apnea.