Schwartz-Jampel syndrome (SJS) is a rare entity characterized by myotonia and skeletal abnormalities. Death and respiratory distress have previously been reported in newborns and young children with SJS. We describe a patient with SJS and snoring in whom polysomnography demonstrated obstructive sleep apnea and hypoxia. Although tonsillectomy with laser palatoplasty significantly widened the oropharyngeal introitus, obstructive sleep apnea persisted. Ultimate improvement occurred only after the institution of home therapy with bi-level positive airway pressure during the night. We also discuss the specific structural and neuromuscular features of SJS that may be responsible for upper airway obstruction.
Arch Otolaryngol Head Neck Surg. 1997;123:1348-1350
Cook SP, Borkowski WJ. Obstructive Sleep Apnea in Schwartz-Jampel Syndrome. Arch Otolaryngol Head Neck Surg. 1997;123(12):1348-1350. doi:10.1001/archotol.1997.01900120098017