title: Rapidly evolving narcolepsy-like syndrome coinciding with severe OSA following pharyngoplasty in Prader-Willi syndrome.
abstract: Our patient with Prader-Willi syndrome (PWS) not only displayed many typical syndromic features but also presented several unique challenges, with gross velopharyngeal insufficiency necessitating repair and severe obstructive sleep apnea developing thereafter, requiring ongoing non-invasive ventilation. This coincided with development of a narcolepsy-like syndrome, treated with dexamphetamine. Cataplexy, hypnogogic/hypnopompic hallucinations, sleep paralysis were absent and HLA-DQB1*06:02 was negative. Growth hormone (GH) therapy was commenced at 8 months of age and, as recommended, regular polysomnograms were conducted. Adenotonsillar growth on GH therapy is reported as well as several reports of sudden death in PWS patients on GH. Despite GH, lifestyle measures with regular dietician review, and an exercise program, there was progressive excessive weight gain. Our patient also developed moderate tonsil hypertrophy. To our knowledge, this is the first case report of severe obstructive sleep apnea secondary to sphincter pharyngoplasty coinciding with rapidly evolving narcolepsy-like syndrome.
authors.affiliation: Department of Sleep Medicine, Sydney Children's Hospital Randwick, New South Wales, Australia.
authors.forename: Gregory
authors.initials: G
authors.lastname: Blecher
authors.affiliation: Department of Sleep Medicine, Sydney Children's Hospital Randwick, New South Wales, Australia.
authors.forename: Natalie
authors.initials: N
authors.lastname: Wainbergas
authors.affiliation: Department of Sleep Medicine, Sydney Children's Hospital Randwick, New South Wales, Australia.
authors.forename: Michael
authors.initials: M
authors.lastname: McGlynn
authors.affiliation: Department of Sleep Medicine, Sydney Children's Hospital Randwick, New South Wales, Australia.
authors.forename: Arthur
authors.initials: A
authors.lastname: Teng
keywords: Excessive daytime sleepiness; Prader-Willi syndrome; narcolepsy; obstructive sleep apnea; velopharyngeal incompetence