scholarly journals 1240 Obstructive Sleep Apnea Management in Weill-Marchesani Syndrome: A Case Report

SLEEP ◽  
2020 ◽  
Vol 43 (Supplement_1) ◽  
pp. A473-A473
Author(s):  
Brittany Monceaux ◽  
Megan Smalley ◽  
Ugorji Okorie ◽  
Edmond Roberts ◽  
Cesar Liendo ◽  
...  

Abstract Introduction Weill-Marchesani Syndrome (WMS) is a rare systemic genetic connective tissue disorder which usually presents with symptoms of short stature, limited joint movement, and eye problems such as glaucoma and microspherophakia. This genetic condition is associated with fibrous tissue hyperplasia. WMS is inherited as autosomal dominant or autosomal recessive patterns in families leading to a variability in presenting phenotype. Few papers have been written on airway management during anesthesia but as far as we know, this is the first case report on obstructive sleep apnea management in a patient with WMS. Report of Case A 9 year old boy with a past medical history of Methylene THF Reductase deficiency, von Willebrand’s Disease, seizure disorder, premature birth, developmental delays and Weill-Marchesani syndrome was referred to Sleep Medicine due to tonsillar hypertrophy (3+), snoring and witnessed apneas. Upon physical examination, patient had mid-facial hypoplasia, retropositioning of the mandible, high arched palate, Mallampti class IV, maxillary hypoplasia and mandibular hypoplasia. He had been evaluated by ENT which determined the patient to be too high risk due to his medical conditions for T&A. The patient had a polysomnogram in 2018 indicating OSA with an apnea-hypopnea index of 4.2 and a minimum oxygen saturation of 91%. After a CPAP titration study, the patient was started on Auto CPAP of 5-15 cmH2O and has shown improvement in symptoms based on subjective and objective compliance report. Patient has been able to tolerate PAP therapy well with 100% compliance greater than 4 hours per night. Conclusion This case is the first illustrating OSA in a patient with Weill-Marchesani Syndrome. In WMS, the causes of OSA are not only due to tonsillar hypertrophy, but multifactorial, including craniofacial abnormalities. Given the high risk of surgical complications in WMS patients, PAP therapy appears to be a reasonable option for OSA management.

2021 ◽  
Vol 49 (2) ◽  
pp. 030006052199222
Author(s):  
Xiaorong Yang ◽  
Min Xie ◽  
Lu Tan ◽  
Taomei Li ◽  
Xiangdong Tang

Obstructive sleep apnea (OSA) is characterized by repetitive intermittent oxygen desaturation during sleep. Carbon monoxide poisoning (COP) is the second most common cause of death among non-medicinal poisonings, and oxygen therapy is the current standard of treatment for COP. We herein report a case of a 50-year-old woman diagnosed with severe OSA associated with COP. Both the OSA and COP gradually resolved by automatic continuous positive airway pressure (CPAP) therapy. New OSA symptoms appeared following the development of delayed encephalopathy after acute COP (DEACMP) 3 weeks later. Severe OSA was diagnosed 76 days after COP with an apnea–hypopnea index of 66 events/hour, and CPAP therapy was immediately administered. The patient’s DEACMP symptoms and OSA both improved with CPAP therapy (her apnea–hypopnea index decreased to 32.4 and 16.5 events/hour at 161 and 204 days after COP, respectively). To our knowledge, this is the first case report of OSA caused by COP based on the occurrence and disappearance of OSA symptoms and laboratory findings associated with the emergence and improvement of DEACMP.


2021 ◽  
Vol 11 ◽  
pp. 161-168
Author(s):  
Ghaddy AlSaty ◽  
Mary Burns ◽  
Peter Ngan

This case report describes the successful surgical treatment of a patient diagnosed with obstructive sleep apnea (OSA). A 55-year-old Caucasian male patient with a body mass index (BMI) of 25.6 kg/m2 sought treatment with a chief concern of excessive daytime sleepiness and fatigue. An initial polysomnography report showed moderate OSA with an apnea-hypopnea index (AHI) of 21.2 events/h, and Epworth Sleepiness Score (ESS) of 12/24. The patient was initially prescribed with CPAP treatment but was unable to tolerate treatment after a few months. Clinical and radiographic examination revealed a concave facial profile with maxillary retrognathism. Intraoral examination revealed generalized gingival recession, missing upper lateral incisors and lower first premolars, anterior crossbite, and maxillary transverse deficiency with bilateral posterior crossbite. The lateral cephalogram showed a narrow posterior airway space at the level of the base of the tongue. The patient was treated with maxillomandibular advancement (MMA) surgery to improve airway obstruction. Results showed balanced facial esthetic and stable occlusion with a complete resolution of the patient’s OSA and a post-operative improvement of AHI from 21.2 to 0.7 events/h and ESS from 12/24 to 3/24. The lowest oxyhemoglobin saturation during sleep was improved to 97%, and the BMI decreased from 25.6 to 25.2 kg/m2. These results suggest that MMA surgical procedure can be used as a definitive treatment for patients with maxillomandibular deficiency and OSA.


2011 ◽  
Vol 18 (5) ◽  
pp. 271-274 ◽  
Author(s):  
JA Gjevre ◽  
RM Taylor-Gjevre ◽  
R Skomro ◽  
J Reid ◽  
M Fenton ◽  
...  

OBJECTIVES: To compare a commercially available, level III in-home diagnostic sleep test (Embletta, Embletta USA) and in-laboratory polysomnography (PSG) in women with suspected obstructive sleep apnea (OSA).METHODS: Consecutive women scheduled for routine PSG testing for evaluation of clinically suspected OSA and who met inclusion/exclusion criteria, were invited to participate. An in-home Embletta portable monitor test was performed one week before or after diagnostic PSG.RESULTS: Forty-seven of 96 women who met the inclusion/exclusion criteria agreed to participate. The mean (± SD) age of the patients was 52.0±11.0 years, with a mean body mass index of 34.86±9.04 kg/m2, and 66% (31 of 47) of patients were at high risk for OSA according to the Berlin score. Paired analysis of the overall population revealed no significant difference in mean apnea/hypopnea index (AHI) between the two diagnostic methods (P=0.475). At an AHI of ≥5, the Embletta test was highly sensitive (90.6%) in determining abnormal versus normal OSA, with a positive predictive value of 82.7%. However, a higher Embletta AHI threshold of ≥10 may be more useful, with a higher level of agreement (kappa coefficient) with PSG testing and a positive predictive value of 92.3%. The in-home study was less useful at distinguishing severe from nonsevere OSA, yielding a sensitivity of 50%.CONCLUSIONS: In women believed to be at high-risk for OSA, Embletta in-home sleep testing is useful for the detection of sleep disordered breathing.


2021 ◽  
pp. 019459982110587
Author(s):  
Courtney Johnson ◽  
Taylor Leavitt ◽  
Shiva P. Daram ◽  
Romaine F. Johnson ◽  
Ron B. Mitchell

Objectives To determine predictors of obstructive sleep apnea (OSA) in underweight children and to describe the demographic, clinical, and polysomnographic characteristics of an ethnically diverse population of underweight children with OSA. Study Design Case-control study. Setting University of Texas Southwestern Medical Center and Children’s Medical Center of Dallas Methods Underweight children aged 2 to 18 years who underwent a polysomnogram for suspected OSA between January 2014 and December 2020 were included. Underweight was defined as body mass index <5th percentile per Centers for Disease Control and Prevention guidelines. Children with apnea-hypopnea index <1.0 served as a control group. Univariate and multiple logistic regression analysis was used to determine the predictors of OSA. Significance was set at P < .05. Results An overall 124 children met inclusion criteria: mean age, 6.4 years; 50% female; 44% Hispanic, 31% African American, and 18% Caucasian. A total of 83 children had OSA (apnea-hypopnea index ≥1.0). Height was negatively correlated with OSA (odds ratio, 0.94; 95% CI, 0.88-0.99; P = .02) while allergic rhinitis (odds ratio, 2.97; 95% CI, 1.24-7.08; P = .01) and tonsillar hypertrophy (odds ratio, 3.38; 95% CI, 1.42-8.02; P = .01) were predictors for the presence of OSA. No demographic or clinical characteristics were predictors for severe OSA. Conclusion Underweight children with OSA, as compared with those without OSA, are more likely to have decreased height, tonsillar hypertrophy, and allergic rhinitis. There are no predictors of severe OSA in underweight children. We recommend polysomnography for the diagnosis of OSA in symptomatic underweight children with large tonsils, especially when they have a history of allergies.


2019 ◽  
Vol 2019 ◽  
pp. 1-4 ◽  
Author(s):  
Carlos O’Connor Reina ◽  
Guillermo Plaza Mayor ◽  
Jose Maria Ignacio-Garcia ◽  
Peter Baptista Jardin ◽  
Maria Teresa Garcia-Iriarte ◽  
...  

We introduce the first case reported to date of a floppy closing door epiglottis in an OSA (obstructive sleep apnea) patient treated successfully with an Mhealth smartphone application based on myofunctional therapy.


Author(s):  
Ayeh Shamsadini ◽  
Somayeh Bagheri-Kelayeh

Background and Objective: Co-occurring central sleep apnea (CSA) and obstructive sleep apnea (OSA) are a developing apprehension because many patients referred to sleep studies have co-morbidities such as cardiovascular and/or neurological disorders which increase the possibility of central and obstructive episodes. Here, we report a patient without excessive daytime sleepiness and a combination of CSA and OSA. Case Report: We present a 16-year-old boy with a history of snoring, poor quality of sleep, nightmare, sleep walking, and sleep talking since he was two-years old. His STOP-Bang score was 7. Standard attended polysomnography (PSG) with audio-video monitoring was performed. The PSG results contained Apnea Hypopnea Index (AHI): 30.2 (number of OSAs was 50 and number of CSAs was 49 during sleep). Then, a titration study was performed and continuous positive airway pressure (CPAP) setting as low as eight cmH2O was effective in eliminating obstructive events, but there was emerging CSAs in favour of Treatment Emergent CSA (TCSA). Conclusion: This case represents a non-sleepy phenotype of OSA in combination with many CSAs in PSG. We suggest that further studies be performed on the association between the concomitant presence of CSA and OSA among nonsleepy patients with OSA.


2019 ◽  
Author(s):  
Xiaojun Zhan ◽  
Chandala Chitguppi ◽  
Ethan Berman ◽  
Gurston Nyquist ◽  
Tomas Garzon-Muvdi ◽  
...  

2020 ◽  
Vol 103 (8) ◽  
pp. 725-728

Background: Lifestyle modification is the mainstay therapy for obese patients with obstructive sleep apnea (OSA). However, most of these patients are unable to lose the necessary weight, and bariatric surgery (BS) has been proven to be an effective modality in selected cases. Objective: To provide objective evidence that BS can improve OSA severity. Materials and Methods: A prospective study was conducted in super morbidly obese patients (body mass index [BMI] greater than 40 kg/m² or BMI greater than 35 kg/m² with uncontrolled comorbidities) scheduled for BS. Polysomnography (PSG) was performed for preoperative assessment and OSA was treated accordingly. After successful surgery, patients were invited to perform follow-up PSG at 3, 6, and 12 months. Results: Twenty-four patients with a mean age of 35.0±14.0 years were enrolled. After a mean follow-up period of 7.8±3.4 months, the mean BMI, Epworth sleepiness scale (ESS), and apnea-hypopnea index (AHI) significantly decreased from 51.6±8.7 to 38.2±6.8 kg/m² (p<0.001), from 8.7±5.9 to 4.7±3.5 (p=0.003), and from 87.6±38.9 to 28.5±21.5 events/hour (p<0.001), respectively. Conclusion: BS was shown to dramatically improve clinical and sleep parameters in super morbidly obese patients. Keywords: Morbid obesity, Bariatric surgery, Obstructive sleep apnea (OSA)


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