845 Progressive external ophthalmoplegia in sleep apnea presenting as floppy eyelid syndrome

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.

2018 ◽  
Vol 89 (3) ◽  
pp. 178-183 ◽  
Author(s):  
Kathleen L. Curley ◽  
Sachini Kahanda ◽  
Katia M. Perez ◽  
Beth A. Malow ◽  
Ashley H. Shoemaker

Background/Aims: Pseudohypoparathyroidism (PHP) is a rare, genetic disorder. Patients with PHP may have increased prevalence of obstructive sleep apnea (OSA) but this has not been prospectively studied. Methods: We enrolled children aged 6–18 years with PHP and matched controls. Evaluation included physical examination, medical history, and polysomnography. Results: Fifteen children with PHP type 1A (PHP1A) and 15 controls completed the study. Both groups were obese (BMI 32.2 ± 8.7 vs. 31.7± 6.5). The majority of PHP1A patients required tympanostomy tubes (86.7%) and adenotonsillectomy (73.3%). The primary outcome, i.e., the obstructive disturbance index, was significantly higher in PHP1A children versus controls (1.8 ± 2.3 vs. 0.6 ± 0.5, p = 0.045). Children with PHP1A were more likely to have OSA compared with controls (60.0 vs. 13.3%, p = 0.008). Three siblings with PHP type 1B (PHP1B) were also studied (BMI 25.9 ± 9.0). None had a history of adenotonsillectomy, one had tympanostomy tubes. The obstructive disturbance index (2.0 ± 2.3) was similar to that of children with PHP1A. Two (66.7%) PHP1B participants had OSA. Conclusion: Children with PHP1A are at an increased risk for OSA compared with similarly obese peers. They also have higher rates of otitis media and adenotonsillar hypertrophy. Screening for OSA should be considered in all patients with PHP1A and possibly PHP1B though more research is needed.


SLEEP ◽  
2021 ◽  
Vol 44 (Supplement_2) ◽  
pp. A166-A166
Author(s):  
Ankita Paul ◽  
Karen Wong ◽  
Anup Das ◽  
Diane Lim ◽  
Miranda Tan

Abstract Introduction Cancer patients are at an increased risk of moderate-to-severe obstructive sleep apnea (OSA). The STOP-Bang score is a commonly used screening questionnaire to assess risk of OSA in the general population. We hypothesize that cancer-relevant features, like radiation therapy (RT), may be used to determine the risk of OSA in cancer patients. Machine learning (ML) with non-parametric regression is applied to increase the prediction accuracy of OSA risk. Methods Ten features namely STOP-Bang score, history of RT to the head/neck/thorax, cancer type, cancer stage, metastasis, hypertension, diabetes, asthma, COPD, and chronic kidney disease were extracted from a database of cancer patients with a sleep study. The ML technique, K-Nearest-Neighbor (KNN), with a range of k values (5 to 20), was chosen because, unlike Logistic Regression (LR), KNN is not presumptive of data distribution and mapping function, and supports non-linear relationships among features. A correlation heatmap was computed to identify features having high correlation with OSA. Principal Component Analysis (PCA) was performed on the correlated features and then KNN was applied on the components to predict the risk of OSA. Receiver Operating Characteristic (ROC) - Area Under Curve (AUC) and Precision-Recall curves were computed to compare and validate performance for different test sets and majority class scenarios. Results In our cohort of 174 cancer patients, the accuracy in determining OSA among cancer patients using STOP-Bang score was 82.3% (LR) and 90.69% (KNN) but reduced to 89.9% in KNN using all 10 features mentioned above. PCA + KNN application using STOP-Bang score and RT as features, increased prediction accuracy to 94.1%. We validated our ML approach using a separate cohort of 20 cancer patients; the accuracies in OSA prediction were 85.57% (LR), 91.1% (KNN), and 92.8% (PCA + KNN). Conclusion STOP-Bang score and history of RT can be useful to predict risk of OSA in cancer patients with the PCA + KNN approach. This ML technique can refine screening tools to improve prediction accuracy of OSA in cancer patients. Larger studies investigating additional features using ML may improve OSA screening accuracy in various populations Support (if any):


2017 ◽  
Vol 2017 ◽  
pp. 1-7 ◽  
Author(s):  
Laura Verzé ◽  
Francesca Antonella Bianchi ◽  
Niccolò Barla ◽  
Serena Maria Curti ◽  
Giovanni Gerbino ◽  
...  

Introduction. The functional results of surgery in terms of facial mobility are key elements in the treatment of patients. Little is actually known about changes in facial mobility following surgical treatment with maxillomandibular advancement (MMA). Objectives. The three-dimensional (3D) methods study of basic facial movements in typical OSAS patients treated with MMA was the topic of the present research. Materials and Methods. Ten patients affected by severe obstructive sleep apnea syndrome (OSAS) were engaged for the study. Their facial surface data was acquired using a 3D laser scanner one week before (T1) and 12 months after (T2) orthognathic surgery. The facial movements were frowning, grimace, smiling, and lip purse. They were described in terms of surface and landmark displacements (mm). The mean landmark displacement was calculated for right and left sides of the face, at T1 and at T2. Results. One year after surgery, facial movements were similar to presurgical registrations. No modifications of symmetry were present. Conclusions. Despite the skeletal maxilla-mandible expansion, orthognathic surgical treatment (MMA) of OSAS patients does not seem to modify facial mobility. Only an enhancement of amplitude in smiling and knitting brows was observed. These results could have reliable medical and surgical applications.


2011 ◽  
Vol 145 (5) ◽  
pp. 853-857 ◽  
Author(s):  
Young Gyu Eun ◽  
Seung Youp Shin ◽  
Jae Yong Byun ◽  
Myung Gu Kim ◽  
Kun Hee Lee ◽  
...  

Objectives. To investigate the changes in gustatory function as a complication after radiofrequency tongue base reduction (RTBR) in patients with obstructive sleep apnea (OSA). Study Design. Before-and-after study. Setting. Academic tertiary medical center. Subjects and Methods. Thirty-four patients with suspected velopharyngeal collapse only underwent uvulopalatopharyngoplasty (UPPP group). Twenty-five patients with velopharyngeal and retrolingual collapse underwent concurrent UPPP with RTBR (RTBR group). All patients were evaluated before surgery and at 1 and 4 weeks after surgical treatment. A questionnaire was given to assess symptoms of hypogeusia, dysgeusia, hyposmia, and sensation of the tongue. Electrogustometry (EGM) in 4 areas was used to determine gustatory function. Results. Postoperative values for subjective symptoms did not significantly change following surgical treatment in either group. EGM thresholds of all tested in both groups did not significantly change 1 week and 4 weeks after surgery. Conclusions. Gustatory function remained unchanged after RTBR in patients with OSA. The authors suggest that RTBR is a safe procedure in terms of taste sensation in OSA patients.


2012 ◽  
Vol 2012 ◽  
pp. 1-4 ◽  
Author(s):  
L. M. Paulson ◽  
C. J. MacArthur ◽  
K. B. Beaulieu ◽  
J. H. Brockman ◽  
H. A. Milczuk

Introduction. Controversy exists over whether tonsillectomy will affect speech in patients with known velopharyngeal insufficiency (VPI), particularly in those with cleft palate.Methods. All patients seen at the OHSU Doernbecher Children's Hospital VPI clinic between 1997 and 2010 with VPI who underwent tonsillectomy were reviewed. Speech parameters were assessed before and after tonsillectomy. Wilcoxon rank-sum testing was used to evaluate for significance.Results. A total of 46 patients with VPI underwent tonsillectomy during this period. Twenty-three had pre- and postoperative speech evaluation sufficient for analysis. The majority (87%) had a history of cleft palate. Indications for tonsillectomy included obstructive sleep apnea in 11 (48%) and staged tonsillectomy prior to pharyngoplasty in 10 (43%). There was no significant difference between pre- and postoperative speech intelligibility or velopharyngeal competency in this population.Conclusion. In this study, tonsillectomy in patients with VPI did not significantly alter speech intelligibility or velopharyngeal competence.


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