SESSION TITLE: Miscellaneous Global Case Reports
SESSION TYPE: Global Case Report
PRESENTED ON: Tuesday, October 29, 2013 at 01:30 PM - 02:30 PM
INTRODUCTION: Turner's Syndrome is a genetic condition caused by the absence of all or part of the second X chromosome in women. This disorder is characterized by extra skin folds on the sides/back of the neck, small stature, menstrual/fertility, endocrine, hearing, and cardiovascular problems. In addition, there may be oropharyngeal and craniofacial abnormalities. These latter issues may potentially pre-dispose individuals to sleep apnea.
CASE PRESENTATION: A 20 year old woman presented to the sleep clinic with symptoms of loud snoring for 3 years accompanied by witnessed apneic pauses lasting between 20-30 seconds. She reported unrefreshed sleep and occasional morning headaches. Her Epworth score was 13 and she would often take 2-3 naps per day. On exam, her BMI was 49. Neck circumference was 43 cm with excess skin folds. The oropharynx was crowded with a Malampati score of 3 and mild macroglossia. The remainder of the physical exam was unremarkable. A cranial-facial radiograph with cephalometric assessment was ordered and revealed hypoplastic mandibular heads. An overnight polysomnogram was obtained for determination of the severity of sleep-disordered breathing.
DISCUSSION: Turner's Syndrome is a relatively rare genetic condition which affects approximately 1 in every 2000-2500 female births. This disorder is commonly associated with short stature, obesity, and craniofacial abnormalities with reduced pharyngeal depth as well as a smaller maxilla and mandible. Despite these findings, there have been limited reports of sleep apnea in this patient population. In the only previous English-language report, Orliaguet et al described a patient with craniofacial anatomical abnormalities whose sleep apnea was cured by maxillomandibular advancement osteotomy . Our patient had only mild hypoplasia of the mandibular heads and likely her obesity is also contributing to the sleep apnea. Overall, there appears to be an under-recognition of the potential for sleep apnea in these at-risk patients.
CONCLUSIONS: Individuals with Turner's Syndrome have multiple mechanisms which place them at risk for sleep-disordered breathing. These patients appear to be sub-optimally represented in the sleep clinic and laboratory. All women with Turner's Syndrome should be screened for possible sleep apnea.
Reference #1: Orliaguet O, Pepin JL, Bettega G, et al. Sleep Apnoea and Turner's Syndrome. Eur Resp J 2001 Jan;17(1):153-5.
DISCLOSURE: The following authors have nothing to disclose: John Gjevre, Nassrein Hussein, Regina Taylor-Gjevre
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