scholarly journals Obstructive Sleep Apnea in a Patient with CHARGE Syndrome

2012 ◽  
Vol 2012 ◽  
pp. 1-3 ◽  
Author(s):  
Carrie-Lee Trider ◽  
Kim Blake

CHARGE syndrome is a genetic disorder characterized by choanal atresia, coloboma of the eye, and ear and cranial nerve abnormalities. We report a child with CHARGE syndrome and obstructive sleep apnea. We highlight difficulties in discerning obstructive sleep apnea-related symptoms from typical features of CHARGE syndrome. Treatment options are discussed with regard to our patient. Tonsillectomy and adenoidectomy improved physical symptoms of obstructive sleep apnea in the patient.

SLEEP ◽  
2021 ◽  
Vol 44 (Supplement_2) ◽  
pp. A329-A329
Author(s):  
Pratibha Anne ◽  
Rupa Koothirezhi ◽  
Ugorji Okorie ◽  
Minh Tam Ho ◽  
Brittany Monceaux ◽  
...  

Abstract Introduction Floppy eye lid syndrome (FES) is known to be associated with Obstructive sleep apnea (OSA) and chronic progressive external ophthalmoplegia (CPEO) is a rare genetic disorder with mitochondrial myopathy that may present with isolated eye lid ptosis in the initial stages. In a patient with loud snoring and obesity, treating obstructive sleep apnea may improve Floppy eyelid syndrome. Report of case(s) 52-year-old African – American male with past medical history of Hypertension, obesity, glaucoma, CPEO status bilateral blepharoplasty with failed surgical treatment. Patient was referred to Sleep medicine team to rule out Obstructive Sleep Apnea aa a cause of possible underlying FES and residual ptosis. On exam, patient was noted to have bilateral brow and eyelid ptosis and mild ataxic gait. MRI brain with and without contrast was unremarkable. Deltoid muscle biopsy was suggestive of possible congenital myopathy and mild denervation atrophy. Polysomnogram showed severe OSA with AHI of 74.1 per hour and patient was initiated on Auto CPAP at a pressure setting of 7–20 cm H2O. CPAP treatment improved snoring, OSA and subjective symptoms of excessive day time sleepiness but did not improve the residual ptosis. Conclusion Treatment of severe OSA in a patient previously diagnosed with CPEO and failed surgical treatment with bilateral blepharoplasty, did not alter the course of residual ptosis/ floppy eyelids even though his other sleep apnea symptoms have improved. Support (if any) 1. McNab AA. Floppy eyelid syndrome and obstructive sleep apnea. Ophthalmic Plast Reconstr Surg. 1997 Jun;13(2):98–114. doi: 10.1097/00002341-199706000-00005. PMID: 9185193.


2015 ◽  
Vol 1 (2) ◽  
pp. 37
Author(s):  
SameerPralhad Narkhede ◽  
Karthik Shetty ◽  
Sushma Sonawane ◽  
Nitin Gadhiya ◽  
VivekP Soni

2018 ◽  
Vol 128 (11) ◽  
pp. 2635-2643 ◽  
Author(s):  
Raj C. Dedhia ◽  
Arshed A. Quyyumi ◽  
Jeanie Park ◽  
Amit J. Shah ◽  
Patrick J. Strollo ◽  
...  

2020 ◽  
Vol 9 (3) ◽  
pp. 888 ◽  
Author(s):  
David Gozal ◽  
Hui-Leng Tan ◽  
Leila Kheirandish-Gozal

Treatment approaches to pediatric obstructive sleep apnea (OSA) have remarkably evolved over the last two decades. From an a priori assumption that surgical removal of enlarged upper airway lymphadenoid tissues (T&A) was curative in the vast majority of patients as the recommended first-line treatment for pediatric OSA, residual respiratory abnormalities are frequent. Children likely to manifest persistent OSA after T&A include those with severe OSA, obese or older children, those with concurrent asthma or allergic rhinitis, children with predisposing oropharyngeal or maxillomandibular factors, and patients with underlying medical conditions. Furthermore, selection anti-inflammatory therapy or orthodontic interventions may be preferable in milder cases. The treatment options for residual OSA after T&A encompass a large spectrum of approaches, which may be complementary, and clearly require multidisciplinary cooperation. Among these, continuous positive airway pressure (CPAP), combined anti-inflammatory agents, rapid maxillary expansion, and myofunctional therapy are all part of the armamentarium, albeit with currently low-grade evidence supporting their efficacy. In this context, there is urgent need for prospective evidence that will readily identify the correct candidate for a specific intervention, and thus enable some degree of scientifically based precision in the current one approach fits all model of pediatric OSA medical care.


2003 ◽  
Vol 19 (1) ◽  
pp. 253-260 ◽  
Author(s):  
Seema S. Sonnad ◽  
Cheryl A. Moyer ◽  
Shushma Patel ◽  
Joseph I. Helman ◽  
Susan L. Garetz ◽  
...  

Objectives: Obstructive sleep apnea is a common disorder with significant morbidity and effects on quality of life. Management can include a range of mechanical, behavioral, and surgical approaches. This paper aims to devise a model of management options to assist in initial cost-effectiveness investigations.Methods: In the absence of practice pattern data and widely accepted guidelines, we reviewed published literature and devised a model of treatment options to facilitate initial studies of outcomes, costs, and cost-effectiveness.Results: Obstructive sleep apnea is rarely addressed by conservative behavioral-based strategies because these options, while inexpensive, have only limited effectiveness. Effective treatment most often relies on nasal continuous positive airway pressure, but poor tolerance or compliance sometimes leads to treatment with oral appliances or surgery. Patients treated by one modality may try another if the initial strategy is ineffective. Laboratory evidence that sleep apnea is effectively treated, and long-term follow-up, are necessary regardless of the treatment modality chosen.Conclusions: Each patient's treatment plan must be individually tailored, but the management model proposed here reflects available evidence-based literature and the authors' impression of current practice patterns. This model should be useful for initial cost-effectiveness investigations.


Author(s):  
Patrick Lévy ◽  
Jean-Louis Pépin ◽  
Renaud Tamisier ◽  
Sandrine Launois-Rollinat

2010 ◽  
Vol 175 (9) ◽  
pp. 676-685 ◽  
Author(s):  
David B. Powers ◽  
Patrick F. Allan ◽  
Curtis J. Hayes ◽  
Peter G. Michaelson

2013 ◽  
Vol 2013 ◽  
pp. 1-7 ◽  
Author(s):  
Rio Dumitrascu ◽  
Joerg Heitmann ◽  
Werner Seeger ◽  
Norbert Weissmann ◽  
Richard Schulz

Obstructive sleep apnea (OSA) is an independent risk factor for cardiovascular (CV) diseases such as arterial hypertension, heart failure, and stroke. Based on human research, sympathetic activation, inflammation, and oxidative stress are thought to play major roles in the pathophysiology of OSA-related CV diseases. Animal models of OSA have shown that endothelial dysfunction, vascular remodelling, and systemic and pulmonary arterial hypertension as well as heart failure can develop in response to chronic intermittent hypoxia (CIH). The available animal data are clearly in favour of oxidative stress playing a key role in the development of all of these CV manifestations of OSA. Presumably, the oxidative stress is due to an activation of NADPH oxidase and other free oxygen radicals producing enzymes within the CV system as evidenced by data from knockout mice and pharmacological interventions. It is hoped that animal models of OSA-related CV disease will continue to contribute to a deeper understanding of their underlying pathophysiology and will foster the way for the development of cardioprotective treatment options other than conventional CPAP therapy.


2012 ◽  
Vol 76 (7) ◽  
pp. 947-953 ◽  
Author(s):  
Carrie-Lee Trider ◽  
Gerard Corsten ◽  
Debra Morrison ◽  
Margaret Hefner ◽  
Sandra Davenport ◽  
...  

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