scholarly journals Ehlers-Danlos Syndrome and Narcolepsy: An Incidental Relationship?

2019 ◽  
Vol 1 (3) ◽  
pp. 16-20
Author(s):  
Lindsay Miliken ◽  
Karim Sedky

Ehlers Danlos syndrome (EDS) is a collagenic disease that has often been associated with different types of sleep disorders ranging from insomnia to obstructive sleep apnea (OSA). EDS usually has associated fatigue and excessive daytime sleepiness (ES), thus narcolepsy should be excluded as a cause. Literature review suggests a high prevalence of hypersomnia disorders in this population. We present two sporadic cases presenting with typical symptoms of narcolepsy.

Author(s):  
Anna Stöberl ◽  
Thomas Gaisl ◽  
Noriane Sievi ◽  
Florian Singer ◽  
Alexander Moeller ◽  
...  

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Stephanie J Mitri ◽  
Alain M Sabri M-L ◽  
M Coussa-Koniski

SLEEP ◽  
2020 ◽  
Vol 43 (Supplement_1) ◽  
pp. A466-A467
Author(s):  
Donna Lea Pepito ◽  
Leslie Markun ◽  
Ajay Sampat

Abstract Introduction Ehlers-Danlos syndrome (EDS) is a genetically inherited connective tissue disorder which has a high prevalence of sleep conditions, including obstructive sleep apnea, insomnia, fatigue, and hypersomnia., Chronic fatigue is an important factor in the impaired quality of life in patients with EDS. Successful treatment of fatigue and hypersomnia with traditional wake-promoting medications and stimulants is limited, due to the high prevalence of postural tachycardia, orthostatic intolerance, and other cardiac conditions in these patients. We present a case of EDS with underlying cardiac comorbidities, hypersomnia and fatigue who had significant improvement in excessive daytime sleepiness after treatment with flumazenil. Report of Case A 19 yoF with PMH of Ehlers-Danlos syndrome, postural tachycardia syndrome (POTS), autonomic instability and well-controlled depression presented with symptoms of fatigue and excessive daytime sleepiness (ESS of 17/24) despite obtaining 10-15 hours of sleep each day. Polysomnogram followed by MSLT was notable for borderline excessive sleepiness without other abnormalities (PSG: AHI 3/hr, SpO2 nadir 92%; MSLT: 0 SOREMS, mean sleep latency 10 minutes). Prior autonomic and cardiac work-up revealed POTS (maximum HR 180 bpm), orthostatic intolerance and aortic root dilatation. Physical exam and previous laboratory work up for fatigue were unremarkable. A trial of flumazenil 6 mg lozenge every 4-6 hours, as needed for sleepiness, was initiated. On her subsequent visit 6 months later, patient reported 50% improvement in symptoms of fatigue and sleepiness, with decrease in ESS from 17 to 5. No adverse effects to flumazenil were reported. Conclusion Flumazenil is a gamma-aminobutyric acid (GABA)-A receptor antagonist that has been previously documented to provide sustained clinical benefit in treatment-refractory hypersomnolence. This case report highlights a successful alternative treatment option for hypersomnolence in patients with EDS and cardiac comorbidities, in which traditional wake-promoting agents and stimulants may be contraindicated.


Author(s):  
D. S. Heath ◽  
H. El-Hakim ◽  
Y. Al-Rahji ◽  
E. Eksteen ◽  
T. C. Uwiera ◽  
...  

Abstract Introduction Diagnosis and treatment of obstructive sleep apnea (OSA) in children is often delayed due to the high prevalence and limited physician and sleep testing resources. As a result, children may be referred to multiple specialties, such as pediatric sleep medicine and pediatric otolaryngology, resulting in long waitlists. Method We used data from our pediatric OSA clinic to identify predictors of tonsillectomy and/or adenoidectomy (AT). Before being seen in the clinic, parents completed the Pediatric Sleep Questionnaire (PSQ) and screening questionnaires for restless leg syndrome (RLS), nasal rhinitis, and gastroesophageal reflux disease (GERD). Tonsil size data were obtained from patient charts and graded using the Brodsky-five grade scale. Children completed an overnight oximetry study before being seen in the clinic, and a McGill oximetry score (MOS) was assigned based on the number and depth of oxygen desaturations. Logistic regression, controlling for otolaryngology physician, was used to identify significant predictors of AT. Three triage algorithms were subsequently generated based on the univariate and multivariate results to predict AT. Results From the OSA cohort, there were 469 eligible children (47% female, mean age = 8.19 years, SD = 3.59), with 89% of children reported snoring. Significant predictors of AT in univariate analysis included tonsil size and four PSQ questions, (1) struggles to breathe at night, (2) apneas, (3) daytime mouth breathing, and (4) AM dry mouth. The first triage algorithm, only using the four PSQ questions, had an odds ratio (OR) of 4.02 for predicting AT (sensitivity = 0.28, specificity = 0.91). Using only tonsil size, the second algorithm had an OR to predict AT of 9.11 (sensitivity = 0.72, specificity = 0.78). The third algorithm, where MOS was used to stratify risk for AT among those children with 2+ tonsils, had the same OR, sensitivity, and specificity as the tonsil-only algorithm. Conclusion Tonsil size was the strongest predictor of AT, while oximetry helped stratify individual risk for AT. We recommend that referral letters for snoring children include graded tonsil size to aid in the triage based on our findings. Children with 2+ tonsil sizes should be triaged to otolaryngology, while the remainder should be referred to a pediatric sleep specialist. Graphical abstract


Sleep Science ◽  
2016 ◽  
Vol 9 (2) ◽  
pp. 106-111 ◽  
Author(s):  
Michael B. Fawale ◽  
Olanrewaju Ibigbami ◽  
Ishaq Ismail ◽  
Adekunle F. Mustapha ◽  
Morenikeji A. Komolafe ◽  
...  

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