bluuebunny/crossref_metadata_2025_split huggingface dataset:
0981 Complex Sleep Apnea in a Patient with ROHHAD
Authors: Ariail Ellen , Hsu Daniel 
Published: May 2023

Abstract

Introduction
Rapid onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare disorder associated with sleep disordered breathing. Patients often have obstructive sleep apnea (OSA) and nocturnal hypoventilation (NH). We present a case with a unique sleep disordered breathing pattern demonstrating both severe central and obstructive sleep apnea demonstrated on two separate polysomnograms with no evidence of significant NH.

Report of case(s)
The patient is a now 8 year old girl who was initially diagnosed with ROHHAD in October 2020 at age 5 years with symptoms of rapid weight gain, hypothalamic dysfunction (hyperprolactinemia), and autonomic dysfunction (recurrent fever, and hypertension). Diagnostic polysomnography in May 2020 demonstrated severe OSA (oAHI 23.4/hr) as well as central sleep apnea (CAI 63.9/hr). The SaO2 nadir was 88% with 15 minutes spent below 90%. There was no evidence of NH, however the CO2 was greater than 50 mmHg for 9.5% of total sleep time. Subsequent titration study recommended BPAP ST of 14/10 cmH20 with back up rate (BUR) of 12 bpm. The patient had a repeat split night study in May of 2022 at age 7 years. During the diagnostic portion, she demonstrated persistent severe OSA (oAHI 39/hr) and central sleep apnea (CAI 21/hr). There was no evidence of NH with a max TCO2 of 50 mmHg and CO2 &gt; 50 mmHg for 0.2% of total sleep time. BPAP ST of 18/10 cmH20 with BUR of 12 bpm led to resolution of obstructive and central apnea events.

Conclusion
ROHHAD remains a rare disease which is often associated with sleep disordered breathing. While there have been rare reports of CSA in ROHHAD, there have been none of this severity. CSA may be a representation of autonomic dysfunction, and previous literature has described central pauses in breathing in ROHHAD patients while awake. While she did not have evidence of hypoventilation on either polysomnogram, which is one of the hallmarks of this disease, it has been described that nocturnal hypoventilation may develop later in the course of the disease. Thus, it remains important to routinely screen patients with polysomnograms as their sleep disordered breathing evolves.

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0982 Atrial fibrillation diagnosed from a home-based sleep study in a patient with REM behavior disorder
Authors: Asgarli Aygun , Liu Junjie 
Published: May 2023

Abstract

Introduction
Atrial fibrillation (A-Fib) is the most common form of cardiac arrhythmia and is a major cause of stroke. Obstructive sleep apnea (OSA) is an established risk factor of A-Fib, but sleep disruption with frequent awakenings was recently identified as another risk factor, independent from OSA. Home sleep apnea test (HSAT) is widely used to diagnose OSA with low cost and short wait time, and HSAT that uses peripheral arterial tonometry (PAT) can reveal cardiac arrhythmia. Here we report a case of A-Fib detected by PAT-based HSAT in a patient with REM sleep disorder.

Report of case(s)
A 60-year-old man with hypertension, depression, anxiety, tobacco and alcohol use disorders presented to sleep clinic for frightening vivid dreams and violent dream enactments that gradually developed over the last two years. A diagnostic polysomnography study showed mild OSA, normal heart rhythm, and no epoch of REM sleep without atonia (RSWA). In the following four years, he used CPAP therapy, imagery rehearsal therapy, high-dose melatonin, doxepin and hydroxyzine. However, the frightening dreams and dream enactments persisted despite full adherence to CPAP. To reassess OSA, the patient took a PAT-based HSAT, which showed not only mild OSA, but one episode of irregularly irregular PAT-derived pulsation variations that lasted three hours and started and stopped abruptly. We therefore ordered longitudinal cardiac monitoring, which showed multiple asymptomatic episodes of A-Fib during nighttime. After treatments for A-Fib were started, a polysomnography study with effective CPAP titration showed one episode of A-Fib with rapid ventricular response that lasted 2.5 hours during non-REM sleep, and multiple epochs of RSWA. The diagnosis of REM sleep behavior disorder (RBD) was thus established.

Conclusion
We reported concurrent developments of RBD and asymptomatic paroxysmal A-Fib in a man in his early sixties. Our case suggests a potential association between RBD and A-Fib, which has not been studied but is conceivable, given that RBD causes frequent awakenings with surges of sympathetic activity. Our case also highlights the advantage of PAT in capturing not only OSA but cardiac arrhythmia. Clinical interpreters of PAT-based HSAT can seize the opportunity to diagnose A-Fib and prevent stroke.

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0988 Vagal Nerve Stimulation and OSA
Authors: Rodríguez Astrid Carrión , Chang Melisa , Padilla Alfonso 
Published: May 2023

Abstract

Introduction
We present a case of obstructive sleep apnea (OSA) worsened by implantation of a vagal nerve stimulator (VNS). A 22-year-old M with PMH of autism and refractory epilepsy s/p VNS implantation was diagnosed with moderate OSA. His parents noted that his sleep-disordered breathing worsened after VNS implantation. He was started on APAP 4-12 cm H2O. Review of adherence data revealed an elevated residual apnea-hypopnea index (AHI) despite nightly usage. PAP titration study was obtained with improvement of AHI on 16 cm H2O. Despite consequent use of determined pressure settings, residual AHI remained elevated. In consultation with the patient’s neurologist, VNS settings were gradually down titrated. Residual AHI improved and remained low as CPAP settings were subsequently weaned.

Report of case(s)
The vagus nerve is part of the parasympathetic nervous system. Afferent fibers project to cortical regions involved in seizure activity. Vagal nerve activation leads to desynchrony, thereby decreasing seizure activity.3 VNS, an adjunctive non-pharmacologic treatment of refractory epilepsy, consists of a generator with multiple adjustable settings and a lead connected to the left vagus nerve.1 VNS activation, in conjuction with medical therapy, can lead to decreased seizures. However, VNS may cause complications such as vocal cord dysfunction, laryngeal spasm, and dyspnea.2 In this case, VNS was noted to cause OSA due to increased airway obstruction, though the pathophysiological mechanism behind this has not been clearly delineated. 3

Conclusion
Based on current evidence of precipitation or worsening OSA with VNS activation, screening and diagnostic testing for OSA in patients under evaluation for VNS placement should be considered. A multidisciplinary approach between Sleep Medicine and Neurology in conjunction with patient goals can lead to a balanced optimization of both epilepsy and OSA management via adjustments of VNS settings, anti-epileptics, and CPAP.

Support (if any)
1. VNS therapy epilepsy. Epilepsy Foundation. https://www.epilepsy.com/sites/default/files/atoms/files/516VNS_VNS_FINAL.pdf. December 20, 2022. 2. Ebben MR, Sethi NK, Conte M, Pollak CP, Labar D. Vagus nerve stimulation, sleep apnea, and CPAP titration. J ClinSleepMed. 2008 Oct 15;4(5):471-3. PMID: 18853706. 3. Parhizgar F, Nugent K, Raj R. Obstructive sleep apnea and respiratory complications associated with vagus nerve stimulators. J ClinSleepMed. 2011 Aug 15;7(4):401-7. doi: 10.5664/JCSM.1204. PMID: 21897779.
0990 Obstructive Sleep Apnea in Patient with White-Sutton Syndrome Presenting with Secondary Polycythemia
Authors: Cocozza Victoria , Kim David , Hansen Shana 
Published: May 2023

Abstract

Introduction
White-Sutton syndrome is a rare autosomal dominant genetic disorder associated with POGZ de novo genetic variants. Patients with White-Sutton syndrome experience a wide spectrum of disease most common being neurocognitive delays, however various sleep disturbances have also been reported. The incidence of obstructive sleep apnea in patients with White-Sutton syndrome has been previously only defined in cohort studies utilizing subjective screening questionnaires.

Report of case(s)
We present a case of a 14-year-old male with past medical history of White-Sutton Syndrome who was referred to the sleep clinic by Pediatric Hematology-Oncology for an evaluation of sleep disordered breathing as part of a secondary polycythemia work-up. Patient’s height was 173.6 cm, weight was 111.8 kg, and BMI was 37.1. Patient’s prior laboratory work-up was remarkable for polycythemia with hematocrit of 50.5% and hemoglobin of 16.8 g/dL. He also had a reassuring bicarbonate level of 22 and no documented daytime oxygen desaturations. The PSG was scored using adult criteria due to the patient’s height and weight. He was diagnosed with moderate obstructive sleep apnea with an apnea-hypopnea index (AHI) of 15.5 per hour and a nadir oxygenation saturation of 89%.

Conclusion
To the author’s knowledge, this is the first case report of a pediatric patient with White-Sutton syndrome with diagnosed obstructive sleep apnea via polysomnography. This is also the first case report of a pediatric patient undergoing polycythemia work-up who was subsequently diagnosed with obstructive sleep apnea.

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0992 Reversible Pediatric Central Sleep Apnea in Hyperhomocysteinemia and Cerebral Sinus Venous Thrombosis
Authors: Coughlin Kevin , Saha Anand , Francis Natalie , Stanton Crystal , Bashir Ahsan 
Published: May 2023

Abstract

Introduction
Pediatric central sleep apnea (CSA) rarely initially presents in adolescent age groups, being more commonly diagnosed in infants. CSA may result from a multitude of neurological insults, such as stroke and brain masses. It may also less often present in metabolic and non-ischemic thrombotic disorders.

Report of case(s)
A 12-year-old female with history of global developmental delay of unclear etiology, chronic headaches, insulin resistance, and early morning tremors was referred for initial evaluation of possible narcolepsy. Severe daytime sleepiness had acutely worsened over the previous month. She was unable to stay awake during school, despite sleeping 13 hours per 24 hours. Central hypersomnia was suspected and polysomnogram with MSLT was scheduled. The patient presented to the Emergency Department 10 days later for worsening headaches and new oral aversion with 12-pound weight loss. Examination showed ataxic gait and dysarthria. Brain MRI revealed non-occlusive cerebral sinus venous thrombosis (CSVT) involving the superior sagittal sinus, right transverse sinus, right sigmoid sinus, right jugular bulb/vein, and cortical veins overlying both cerebral hemispheres with no stroke. Anticoagulation with enoxaparin was initiated and thrombophilia work-up commenced. Polysomnogram demonstrated a central AHI of 49.9/hr with significant periodic breathing and no obstructive sleep apnea. Oxygen titration sleep study failed to significantly improve CSA and BPAP was initiated. Thrombophilia work-up revealed severe hyperhomocysteinemia. Genetic analysis was consistent with autosomal recessive severe methylenetetrahydrofolate reductase (MTHFR) deficiency. The patient was begun on metabolic treatment with betaine, pyridoxine, hydroxocobalamin, and vitamin C, and transitioned to oral rivaroxaban. At 4 months, blood levels had normalized, and MRI demonstrated resolution of CSVT. Family endorsed BPAP compliance and complete resolution of all sleep symptoms. In addition, there was significant improvement in cognition, interpersonal skills, and abstract thought. Follow up polysomnogram 10 months after presentation demonstrated no CSA nor periodic breathing.

Conclusion
To our knowledge, this is the first report of MTHFR deficiency and CSVT resulting in severe CSA. While it is difficult to ascertain which entity ultimately caused the CSA, MTHFR deficiency can produce significant neurologic impairment through white matter disease and defective myelination, while CSVT can provoke venous hypertension, venous stasis, or hypoxia.

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0999 A dramatic response to sleeve gastrectomy in a patient with severe obstructive sleep apnea
Authors: Hart Stephanie , Tobias Lauren 
Published: May 2023

Abstract

Introduction
Obesity is a well-established major, yet modifiable risk factor for the development of obstructive sleep apnea (OSA). Weight loss has consistently been associated with improvement in OSA severity. Here, we present a case of a patient with morbid obesity and severe OSA who underwent bariatric surgery, which resulted in complete resolution of sleep apnea.

Report of case(s)
A 31-year-old woman with a history of morbid obesity (body mass index (BMI) 54kg/m²) and diabetes mellitus was seen in the sleep disorders clinic with symptoms of loud snoring, gasp awakenings, fragmented sleep, and excessive daytime sleepiness with an Epworth sleepiness score (ESS) of 18. Polysomnography (PSG) demonstrated severe OSA with an apnea-hypopnea index (AHI) of 129/hr, mean arterial oxygen saturation (SaO2) of 85%, and nadir SaO2 of 52%. Continuous positive airway pressure (CPAP) was prescribed but never started. One year later, she returned requesting treatment for OSA as part of evaluation for bariatric surgery. A split-night PSG re-demonstrated severe OSA with AHI 60/hr and nadir SaO2 of 51% with 54% of total sleep time spent with SaO2 less than 88%, and a good response to CPAP 14cmH2O with residual AHI 4/hr. CPAP was started and she demonstrated excellent adherence on follow up. Three years lapsed before she returned to the sleep clinic. During this time, she had undergone a sleeve gastrectomy and was successful at losing 156lbs (achieving BMI 31kg/m²). She reported resolution of snoring and daytime sleepiness with ESS of 1. She stopped using CPAP six months after surgery and wished to be re-evaluated for OSA. Repeat PSG showed no evidence of OSA with AHI 1/hr and SaO2 nadir of 91%.

Conclusion
Bariatric surgery is considered the most effective treatment for obesity and is indicated for patients with BMI 35kg/m² or greater with comorbid OSA. Although observational and randomized studies of weight reduction surgery have shown improvement in OSA severity post-operatively and even cure in some cases, few patients exhibit the extreme reduction in AHI seen here, with complete resolution of OSA. This case serves as an important reminder that weight loss should be a priority when managing patients with OSA and excess body weight.

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1003 Immediate Improvement of Second Degree Heart Block With Effective Treatment of Sleep-Disordered Breathing
Authors: Islam Muhtadi , Eiser Alan , Chervin Ronald 
Published: May 2023

Abstract

Introduction
Cardiac arrhythmia and heart block in particular is commonly found in association with obstructive sleep apnea (OSA). Here we describe real-time responsivity of 2nd degree heart block to treatment of OSA with positive airway pressure (PAP) during a titration study.

Report of case(s)
Our patient is a 70-year old man without significant cardiovascular disease. He presented with loud snoring and excessive daytime sleepiness. A home sleep apnea test in July 2020 revealed obstructive sleep apnea (respiratory event index 20, oxygen saturation nadir 86%). The patient was treated with auto-adjusting continuous positive airway pressure (APAP) and had symptomatic benefit. His most recent machine data download suggested an elevated residual respiratory event index (REI) of 19.6, 16.5 of which were central. A split-night study was performed to re-characterize the nature of the patient’s obstructive sleep apnea and treatment needs. The baseline portion of the study (AHI 50.8, oxygen saturation nadir 86%) was notable for the presence of frequent 2nd degree heart block (171.0 events/hour of recording). During the titration portion of the study, frequent central sleep apneas emerged with the addition of PAP therapy, consistent with treatment-emergent central sleep apnea. The patient was transitioned to bilevel positive airway pressure spontaneous timed mode (BPAP ST), and a pressure setting of 13/6 cm of water with backup rate of 14 breaths per minute effectively controlled his sleep-disordered breathing. The heart block that had been observed during the baseline portion of the study dramatically improved with the start of BPAP ST. Once the patient’s sleep-disordered breathing was controlled, the patient’s heart block occurred at a rate of only 12.1 events/hour of recording.

Conclusion
Treatment of sleep apnea has been established to be beneficial for the improvement of cardiac arrhythmias. This case is remarkably instructive in that attainment of an effective treatment setting for sleep-disordered breathing resulted in an almost immediate improvement of heart block.

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1005 The hunt for solutions to daytime sleepiness in the setting of treated obstructive sleep apnea
Authors: Kalathil Josin , Kuehnel Aubrey , Greenough Glen 
Published: May 2023

Abstract

Introduction
There is a possible association between OSA and vitamin D deficiency (Neighbors 2018). Vitamin D deficiency is associated with fatigue and excessive daytime sleepiness (EDS) (Bouloukaki 2022). Vitamin D deficiency might play a role in the residual fatigue or sleepiness seen in some patients with treated OSA.

Report of case(s)
We present a 28 year old female with RLS, anxiety and mild OSA with persistent daytime fatigue and sleepiness despite optimal treatment of OSA. She was evaluated for OSA via a HST due to symptoms of snoring, overnight awakenings, non-restorative sleep, and EDS (Epworth Sleepiness Scale (ESS) of 11/24). The HST revealed mild OSA (REI 4% of 11). Bloodwork revealed a ferritin of 31 ng/mL. She was treated with autoPAP 5-15 cm and daily ferrous sulfate 325 mg. At follow-up she reported significant improvement in her RLS. Repeat ferritin level was 59 ng/ml and continued iron supplementation was recommended. Despite 98% (40/41 days) compliance and effective treatment of OSA with residual AHI of 0.9, she continued to report persistent daytime fatigue and EDS. Given the residual symptoms we checked a vitamin D level which was reduced at 7 ng/mL (21-100 ng/mL).

Conclusion
We identified in the sleep medicine literature a case report of a 28 yo patient with EDS who had significant improvement in symptoms after her vitamin D deficiency (5.9 ng/mL) was treated. This woman had improvement in her ESS from 10/24 to 1/24 (McCarty 2010). This patient, however, did not have OSA which was the case with our patient. This report speculated that a possible mechanism for clinical improvement could include enhanced sleep quality due to resolution of hypovitaminosis D-associated non-inflammatory myopathy, or a possible immunomodulatory effect of vitamin D decreasing central nervous system homeostatic sleep pressure. Residual fatigue and EDS in the treatment of OSA may have multiple causes for which a comprehensive approach can help identify and treat the underlying cause.

Support (if any)
Vitamin D and obstructive sleep apnea: a systematic review and meta-analysis(Neighbors 2018) Vitamin D levels in primary care patients: correlations with clinical, seasonal, and quality-of-life parameters(Bouloukaki 2022) Resolution of Hypersomnia Following Identification and Treatment of Vitamin D Deficiency(McCarty 2010)
1006 How Insomnia Masked a Young Man's First Episode Psychosis
Authors: Kim Jeffrey , Pakniyat-Jahromi Soroush , Mitra Souparno , Grover Shana , Gunturu Sasidhar 
Published: May 2023

Abstract

Introduction
Sleep disturbance is a common sign across many mental health disorders. Particularly, insomnia is a frequent issue among patients with mood disorders. However, there is increasing evidence that suggests that sleep disturbance may be a risk factor for developing psychosis, or conversely, an early warning sign of psychosis. In this case report, we describe a young patient’s first episode of psychosis, which was masked by an initial presentation of insomnia, diagnosed as major depressive disorder, and the patient decompensated further until his psychosis was appropriately diagnosed and treated.

Report of case(s)
A 20-year-old African-American male was evaluated at a major tertiary hospital after he was found calling his mother while crying and speaking incoherently. He was eventually admitted there for two weeks with the diagnosis of Major Depressive Disorder, and discharged on Bupropion 300 milligrams(mg) daily for depression, with Quetiapine 50mg and Trazodone 100mg at night for sleep. Following discharge from this hospital, the patient’s psychiatric history was significant only for one additional outpatient psychiatry clinic visit at a major community hospital, where he was again diagnosed with Major Depressive Disorder, and prescribed Zoloft 25mg daily. The patient eventually presented to our hospital with reports of worsening depression, poor sleep, poor appetite, and more recently, increasingly bizarre behavior. The patient initially presented to the unit disorganized (nursing staff frequently described patient as looking "lost"), staring blankly at the walls, internally preoccupied and laughing inappropriately as if responding to internal stimuli. Patient had episodes of emotional outbursts with aggression and bizarre behavior that required emergent medication. The patient’s Bupropion was discontinued in favor of oral Risperidone, titrated up to 4mg twice daily. Patient’s symptoms, including his sleep, gradually improved with the single antipsychotic regimen, and was eventually discharged after returning to his baseline. Patient was also evaluated by a clinical psychology team who also supported the assessment of first episode of psychosis.

Conclusion
This case highlights the importance of evaluating sleep disturbances in accurately diagnosing mental disorders. Studies show sleep is an important risk factor in the precipitation of many mental illnesses, while sleep disturbances are also frequently resolved by treating the underlying mental illness.

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