AUTHOR=Wu Shuai , Wang Waner , Han Fang , Xu Liyue 

TITLE=Case report: A girl with witnessed sleep apnea

JOURNAL=Frontiers in Neurology

VOLUME=Volume 14 - 2023

YEAR=2024

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2023.1337236

DOI=10.3389/fneur.2023.1337236

ISSN=1664-2295

ABSTRACT=Introduction: Pfeiffer syndrome is a rare genetic disorder characterized by craniosynostosis, broad thumbs and big toes, and partial syndactyly of the hands and feet. This case report presents the case of a girl diagnosed with type II Pfeiffer syndrome who experienced severe obstructive sleep apnea (OSA).Case Report: The patient had been using an oropharyngeal airway since the age of four months due to snoring and witnessed apnea during sleep. At 11 months old, she was referred to our sleep clinic because of growth limitation and gross motor ability issues. Polysomnography (PSG) showed severe obstructive hypopnea before any treatment, and revealed severe central sleep apnea with the oropharyngeal airway in place. Positive airway pressure (PAP) therapy was initiated, which improved both her sleep and gross motor ability.Conclusion: This case report emphasizes the importance of thorough sleep studies for diagnosing sleep and breathing disorders in Pfeiffer syndrome patients and highlights the effectiveness of PAP therapy in managing these conditions.