bluuebunny/crossref_metadata_2025 huggingface dataset:
1152 A Journey Through Kleine-Levin Syndrome: A Longitudinal Case Report
Authors: Tu Xinhang , Lipford Melissa
Published: April 2024

Introduction

Kleine-Levin Syndrome (KLS) is a rare disease with intermittent episodes of hypersomnia with behavioral abnormalities. We present a case of KLS with successful symptomatic treatment with modafinil and eventual remission.

Report of case(s)

A 19-year-old healthy male with no prior sleep disorders was referred for evaluation of hypersomnia. He developed leg cellulitis requiring antibiotic therapy. Shortly afterwards, he developed abnormal behaviors --quitting school, estrangement from friends, sleeping 20 hours a day, irritability, and suppressed appetite. He also demonstrated hypersexuality and disinhibited behaviors. After 10 days, he abruptly returned to baseline and had limited recall of the prior events. Three months later, he had a second episode with similar behavioral and sleep changes, again followed by spontaneous return to baseline after 10 days. Two months later, a similar spell occurred, prompting arrangement for psychiatric admission and initiation of quetiapine for a proposed diagnosis of rapid-cycling bipolar disorder. His symptoms again resolved spontaneously. Diagnostic tests including liver function tests, thyroid function tests, ammonia level, urine drug screen, Lyme disease, MRI brain, EEG, and CSF analysis were unremarkable. He was eventually referred to the Sleep Medicine clinic for evaluation. There were no symptoms suggesting other comorbid sleep disorders, and he had a normal neurologic and physical exam at time of presentation. A clinical diagnosis of KLS was made. The patient and family deferred prophylactic or abortive treatment (such as lithium, carbamazepine, or steroids) due to potential for side effects. Modafinil provided symptomatic benefits during the three milder episodes he had over the next few years. Episodes subsequently resolved and the patient is currently in remission (over 5 years) without sequalae.

Conclusion

KLS is a rare disease with typical onset during young adulthood, manifesting with abrupt onset of recurrent episodes of hypersomnia and prolonged sleep duration, lasting from days to several weeks. The diagnosis is clinical and requires at least one additional feature including: cognitive dysfunction, derealization, major apathy, or disinhibited behaviors. Patients revert to baseline between the episodes. Stimulants such as modafinil can promote wakefulness during the episodes.

Support (if any)

N/A
1154 Life Threatening Obstructive Sleep Apnea in a Patient with Joubert Syndrome and Pierre Robin Sequence
Authors: Isaacs Thomas , Malhotra Sonal
Published: April 2024

Introduction

Joubert syndrome is a recessive, multisystem genetic disorder classically resulting in cerebellar and brainstem malformations recognizable as the “Molar Tooth Sign” on magnetic resonance imaging (MRI). Respiratory complications in these patients include disordered control of breathing, hypoventilation, central sleep apnea and hyperpnea. Obstructive sleep apnea and Pierra Robin syndrome have also been reported, however the use of mandibular distraction in the population has not been well described.

Report of case(s)

Here we present a 17-month-old male who was diagnosed with Joubert syndrome at 2 months of age after MRI imaging demonstrated the “Molar Tooth Sign” and whole exome sequencing identified a CEP41 mutation. He was also found to have micrognathia, retrognathia and glossoptosis consistent with Pierre Robin sequence. Polysomnography (PSG) in the prone position (as patient did not tolerate the supine position) demonstrated an obstructive apnea hypopnea index (oAHI) of 19.3. Based on this study, mandibular distraction was performed. Following this procedure, the patient was weaned to room air. His respiratory status later worsened, with frequent apneas requiring bilevel positive pressure support (BPAP). A titration PSG was performed, but no acceptable BPAP setting was found. Tracheostomy was discussed, and ultimately the family declined. The patient improved on BPAP with intermittent breaks with low flow nasal oxygen when awake. On follow up, the patient’s respiratory status improved and he was tolerating BPAP therapy with sleep without issue. However, during a respiratory illness the patient unfortunately passed away.

Conclusion

Respiratory and sleep-related complications are frequent in patients with Joubert syndrome. This case emphasizes the importance of the recognition and treatment of these complications and points to the need for further research of this population. This case is also unusual as the use of mandibular distraction in patients with Joubert syndrome is not frequently described.

Support (if any)

Bachmann-Gagescu, Ruxandra, et al. "Healthcare recommendations for Joubert syndrome." American journal of medical genetics Part A 182.1 (2020): 229-249.
1155 Exploring Vagus Nerve Stimulation (VNS) and Its Relationship with Sleep Apnea: Implications and Insights
Authors: Cardona-Quiñones Roberto , Hernandez Saidy Salem , Vargas-Perez Noel
Published: April 2024

Introduction

Obstructive Sleep Apnea (OSA) is characterized by recurrent partial or complete blockage of the upper airway during sleep, leading to disruptions in breathing and intermittent oxygen desaturation, putting patients with epilepsy at risk for seizure exacerbations. However, literature about the development or progression of OSA in patients with a vagus nerve stimulator (VNS) refractory epilepsy is limited.

Report of case(s)

Case of a 42-year-old female with history of right lobe temporal epilepsy since childhood, temporal lobe surgery for epilepsy, currently on VNS who complained of snoring and daytime sleepiness. An Epworth Sleepiness Scale was obtained with a score of 18/24 (high). Physical examination revealed mallampati score of II, BMI: 24.62 kg/m², 139 lb weight, 14-inch neck circumference, and a STOP-Bang sleep score of 2/8 (low-risk). During the initial polysomnography (PSG), the patient exhibited mild to moderate OSA, with associated hypoxemia and disruption in sleep architecture, as reflected by the baseline apnea/hypopnea index (AHI) of 13.5/hr (normal: < 5/hr). The REM AHI (AASM) was 12.3/hr, and the respiratory events and desaturation pattern exhibited an atypically periodic nature, occurring approximately every 3.6 minutes with fixed respiratory events lasting around 29-30 seconds. This periodicity was likely associated with the activation of the VNS implant.

Conclusion

To our knowledge, this case is novel and important in raising awareness of screening for sleep-related disorders, given the limited research about VNS leading to such manifestations. What is significant about this case is that routine tools typically used did not provide sufficient clarity for diagnosing this patient. Instead, a thorough evaluation was required where there are no clear guidelines to evaluate possible VNS-induced sleep-related disorders. The mechanisms involved are complex and diverse. Some proposed causes include respiratory disturbances with changes in airflow, primarily attributable to vocal cord paresis, supraglottic spasm, laryngeal muscle stimulation, or alterations to the brainstem's respiratory center and relay of information, among other possible mechanisms. Further studies are necessary to understand these manifestations, especially in underserved regions like the Puerto Rican and Hispanic populations, where access to sleep studies and research is limited.

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1156 “NIV Nap” to Improve PAP Acceptability and Hypoventilation in Neuromuscular Disease
Authors: Thetford Jay , Chang Melisa , Eng Kevin
Published: April 2024

Introduction

Respiratory failure is the most common cause of death in patients with several types of neuromuscular disease (NMD), including myotonic dystrophy type 1 (MD1). Non-invasive ventilation (NIV) is the cornerstone of treatment, but consistent use and acceptability remain a challenge. While nap-titrations have improved CPAP adherence in obstructive sleep apnea (OSA), we present a case where increased use and optimization of therapy was achieved through a daytime nap NIV titration.

Report of case(s)

47-year-old man with MD1, obesity , and mild OSA with long-standing PAP intolerance presented with dyspnea and hypoxia. Blood gas was suggestive of hypoventilation and work-up for hypoxia including CT chest with pulmonary artery protocol and echocardiogram with bubble were unremarkable. BIPAP and supplemental oxygen were applied with subsequent improvement. Pulmonary function testing was also consistent with hypoventilation, featuring MIP of 14 cmH2O (15% predicted), FVC of 3.30L (65% predicted), and no diffusion impairment. Shortly after discharge, patient was transitioned to NIV with iVAPS with EPAP 5 cmH2O, PS 4-12 cmH2O, TV 6cc/kg, and RR 12 with 4L oxygen. Despite consistent use, ongoing hypoxia was noted on home oximetry testing. The patient was then brought into the sleep lab for a daytime NIV titration study, or “NIV Nap.” During this 2-hour study, he was found to have persistent obstructive events, and was titrated to BIPAP S/T with EPAP 10 cm H2O, IPAP 16 cm H2O, RR 16, and I-time of 0.8-1.5 seconds which achieved optimal therapy for his OSA and hypoventilation. Following this titration, he was able to weaned off of nocturnal oxygen and reported improved symptoms. At 30-day follow-up, remote data demonstrated NIV usage 100% of days, >4-hour/day usage of 87%, residual AHI of 1.3/hr, average TV of 519 mL, and average MV of 10.8 L/min.

Conclusion

While daytime nap titrations have been used with good effect in patients with OSA, this tool has been underutilized in patients with neuromuscular disease and complex hypoventilation. Daytime “NIV Naps” can allow for increased acceptability of treatment while assuring safe and effective NIV therapy, and in this case demonstrated an increase in use.

Support (if any)

N/A
1157 Obstructive Sleep Apnea Symptoms Caused by an Occult Seizure Disorder with a Brain Tumor Focus
Authors: Ibrahem Marwah , Jain Nikhita , Bronstein Jason
Published: April 2024

Introduction

Complex nocturnal behaviors are one of the most difficult diagnostic challenges in sleep medicine. The sensitivity of electroencephalography (EEG) varies with the study duration, epileptogenic lesion location, electrode placement, and the presence of events. A normal isolated EEG is insufficient to exclude an underlying seizure disorder particularly when diagnostic uncertainty remains. Polysomnography (PSG) is the gold standard for the evaluation of obstructive sleep apnea (OSA), and that has demonstrated a bidirectional relationship between OSA and comorbid epilepsy. This case report highlights an adolescent male with seizure-like symptoms initially diagnosed with OSA with refractory nocturnal episodes on continuous positive airway pressure (CPAP) for years until his eventual clinical diagnosis that was prompted by a repeat PSG.

Report of case(s)

A 14-year-old biological male with a history of snoring and excessive daytime sleepiness reported multiple episodes of unresponsiveness during sleep associated with shaking activity and self-reported desaturation at home. Initial episodes terminated upon repositioning of his body, however episodes and symptoms persisted despite treatment with positional therapy and CPAP. He had no clinical episodes during an unrevealing 72-hour EEG study. A repeat diagnostic PSG demonstrated an apnea-hypopnea index (AHI4%) of 1.1 events/hour, an AHI3A of 5.3 events/hour, and an SpO2 nadir of 92%. When the lights were turned on the patient exhibited repetitive facial movement upon awakening with poly-spikes on the corresponding EEG leads. This was followed by an inpatient admission for continuous EEG that demonstrated focal to bilateral tonic-clonic seizure during sleep of left-sided origin. MRI showed a 1.7 cm left basal temporal lobe tumor that was likely the seizure focus. He was discharged on levetiracetam, and ultimately underwent a posterior temporal lesion resection with resolution of his symptoms, including paroxysmal events and excessive daytime sleepiness.

Conclusion

Suspected nocturnal seizures often requires comprehensive and repeated testing modalities as an interictal EEG may fail to detect a seizure disorder and the presence of OSA does not eliminate the possibility of comorbid epilepsy. It is paramount to maintain a heightened index of suspicion as untreated OSA and epilepsy may have additive detrimental health effects. Appropriate identification as in our case may have a curative effect.

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1163 Central Sleep Apnea: A Possible Rare Adverse Effect of Vagus Nerve Stimulation
Authors: Todd Michael , Nelson Michele , Taylor Samuel , Alattar Maha , Rath Subhendu
Published: April 2024

Introduction

Vagus nerve stimulation (VNS) is a neuromodulation therapy for treatment of drug-resistant epilepsy (DRE). VNS therapy is known to affect sleep by increasing risk for obstructive sleep apnea (OSA). We present the case of a young woman with DRE and mild OSA who was found to have central sleep apnea (CSA) five years after VNS placement. Based on our literature review, there are limited case reports on this topic.

Report of case(s)

A 22-year-old female with a history of Tuberous Sclerosis and DRE, couple months’ status post-VNS placement presented for snoring and gasping arousals. She underwent Polysomnography (PSG), which documented mild OSA, with an apnea-hypopnea index (AHI) of 8.6 and associated oxygen desaturation nadir of 82%. Average transcutaneous CO2 (TcCO2) monitoring during supine wakefulness was 43.1 mmHg and during sleep was 44.2 mmHg respectively. She had a titration PSG, which noted that a Continuous Positive Airway Pressure (CPAP) setting of 6 cm of water was effective in treating her OSA. CSA was not observed in either of those studies. Five years later, the patient returned for a routine follow-up. Her home CPAP data review showed that despite a four-hour compliance of 90%, the average CPAP-generated AHI was 14.9. Titration PSG was performed, which showed frequent obstructive and central apneas. Bilevel PAP in ST mode was tested at 15/10 cm of water with a respiratory rate of 10 per minute, which helped apneas. However, obstructive and central hypopneas persisted in this setting. Additionally, global hypercarbia was observed with an average TcCO2 value of 51.9 mmHg during supine wakefulness and 60mmHg (412 minutes > 55mmHg) during sleep, respectively. An MRI two years prior to this titration PSG showed no structural cause for the central apnea. She has never been on opioids and her BMI (30.5) has remained largely unchanged in the past five years. She is planned to have a follow up for further evaluation including changes in VNS settings and a retitration PSG study.

Conclusion

CSA remains an unexplored possible adverse effect of VNS implantation. Further investigations are needed to establish a direct correlation between VNS implantation and CSA.

Support (if any)

none
1165 A Challenging Case of Chronic Fentanyl Use Inducing Central Sleep Apnea After Tracheostomy
Authors: Alsaggaf Mohammed , Karroum Elias
Published: April 2024

Introduction

It’s always challenging to diagnose central sleep apnea (CSA) in related to chronic opioid use.

Report of case(s)

A 66 years old male with a significant history of myasthenia gravis, obstructive sleep apnea, depression, and asthma. Initial home sleep apnea test (HSAT) AHI: 65. However he could not tolerate PAP therapy and eventually underwent an oral device. The repeated HSAT AHI while on oral appliance was 30.3. Due to poor compliance, he has been off both treatments for a few years until he was seen in our clinic with excessive daytime sleepiness (EDS), fatigue, loud snoring and witnessed gasping events. His Epworth scale was 24. His medications were remarkable for fentanyl 150 mcg patch daily for chronic pain. His BMI is 28. A new in-lab polysomnography (PSG) showed AHI of 57.9 with mild central apnea index 5.1. BIPAP 20/16 was recommended under titration. The patient declined PAP therapy and surgery. Subsequently, he underwent tracheostomy and his symptoms were much improved. However he was still having residual EDS. A repeated PSG was done with his tracheostomy with AHI: 107 but all the apnea and hypopnea events were central in origin. The study showed a very irregular and ataxic breathing without Cheyne-Stokes breathing. His ECHO shows an ejection fraction of 51%. All other blood work up was unremarkable. It was believed that his central apnea had been induced by chronic opioid use based on Morphine Milligram Equivalents (MME). Prevalence of CSA in patients taking chronic opioid is 24%. CSA due to opioids is associated with abnormal breathing patterns (ataxic, biot and/ or cluster). The morphine equivalent daily dose (MEDD) or Morphine Milligram Equivalents (MME) is strongly associated with the severity of sleep breathing disorders (SBD) predominantly CSA. Studies have shown that ataxic breathing during NREM was more frequent at MED ≥ 200. Our patient's fentanyl dose of 150 mcg patch equals 360 MME which puts him at an extreme risk of CSA.

Conclusion

It’s important to calculate MME among patients with opioid to avoid risk of inducing central sleep apnea.

Support (if any)

None
1166 Long-term Buprenorphine Use and Prevalence of Sleep Apnea: A Case Series
Authors: Eshghabadi Mohammad Amin , Javaheri Shahrokh , Aboelnasr Amr
Published: April 2024

Introduction

It has been well documented that opiate use is a risk factor for developing sleep apnea. We suspect that buprenorphine being a partial-opioid-agonist to also be a risk factor for developing sleep apnea. Study by Farney et al showed an association between Buprenorphine use and sleep apnea. But the literature also has contradictory findings in which a publication by Grunstein et al showed that by switching from methadone to buprenorphine pre-existing sleep apnea was eliminated, although this study only observed the effects of only short-term buprenorphine use. There is a gap in understanding the prevalence and specific risk factors associated with sleep apnea in chronic buprenorphine.

Report of case(s)

Patient 1: 46-year-old male. Medical History: Obesity, hypertension, coronary artery disease. Former smoker (15 pack year smoking history) Buprenorphine Use: 6 years for opioid dependence. Sleep Study: Central sleep apnea- hypopnea index of 10.3, unresponsive to CPAP titration. Patient 2: 66-year-old male Medical history: Chronic back pain, smoker Buprenorphine Use: 6 years for chronic back pain. Sleep Study: Central sleep apnea- hypopnea index of 4.5, unresponsive to CPAP titration. Patient 3: 47-year-old female. Medical History: Obesity, narcolepsy. Buprenorphine Use: 6 years. Sleep Study: No evidence of central sleep apnea on initial and subsequent studies. Patient 4: 28-year-old male. Medical History: Obesity. Buprenorphine Use: 8 years for chronic pain or opioid dependence. Sleep Study: No central sleep apnea on initial study. Subsequent study revealed central sleep apnea with central apnea- hypopnea index (AHI) of 2.9. Patient 5: 68-year-old male. Medical History: Atrial fibrillation, hyperlipidemia, chronic kidney disease, cigarette smoker, obesity. Buprenorphine Use: 8 years for chronic pain or opioid dependence. Sleep Study: Initial study showed central AHI of 0.5. Subsequent study revealed an increase in central AHI to 13.1.

Conclusion

The presented cases raise awareness of a possible link between long- term buprenorphine use and sleep apnea. This case series underscores the importance of monitoring individuals on long-term buprenorphine therapy for the potential development of sleep apnea. Further research is needed to elucidate the underlying mechanisms and explore management strategies for individuals facing this complication of buprenorphine therapy.

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0117 Emotional Support Is the Strongest Predictor of Sleep Disturbances Among a Sample of Perinatal Women of Color
Authors: Carrasco Mary , Blanc Judite , Garchitorena Laurent , Dimanche Stacyca , Hollimon Laronda , Gabbay Vilma , Scaramutti Carolina , Jean-Louis Girardin , Seixas Azizi
Published: April 2024

Introduction

Racial and ethnic minorities face a higher prevalence of maternal mental health conditions (e.g. postpartum depression and anxiety), compared to their White counterparts. Yet, studies have shown White women are more likely to get a diagnosis and treatment for postpartum depression compared to Black or Latina women. Lack of emotional and social support are known to be linked with poor health outcomes that are also associated with sleep. Yet, little is known about the direct relationship between emotional support and sleep health, especially among perinatal women of color.

Methods

This work utilized data from Nurturing Moms, a pilot study investigating the effect of a virtual reality program on maternal stress among expectant (0-36 weeks gestation) and postpartum (up to 12 months after birth) women of color. Participants (n=46) completed baseline surveys that captured psychological, emotional, behavioral, and sleep data. These surveys included Patient-Reported Outcomes Measurement Information System (PROMIS) measures of Emotional Support and Sleep Disturbance, among others. For the current study, we hypothesized that emotional support will be associated with sleep disturbance outcomes. Multilinear regression was performed using SPSS to determine if emotional support predicted sleep disturbance.

Results

Twenty-three expectant (29.3±4.8 years) and twenty-three post-partum (31.6±5.1 years) women completed online baseline surveys. Emotional support was found to be significantly associated with sleep disturbance in the expectant moms cohort [F(4,18) = 4.68, p=0.009] and in the post-partum mothers cohort [F(4,18) = 5.73, p=0.004]. The regression analysis indicates that lower emotional support predicted greater sleep disturbance (β1= -0.525) among expectant mothers and (β1= -0.388) among post-partum mothers, albeit a greater magnitude was observed among expectant mothers.

Conclusion

Emotional support was found to be strongly associated with sleep disturbance in a cohort of pregnant and post-partum women of color. With recent efforts geared toward addressing the maternal health crisis, this study highlights the importance of focusing on racial-ethnic minorities when investigating the impact of support on sleep health. Further studies exploring the relationship between emotional support and sleep among perinatal women of color are needed to implement interventions that will target maternal mental health in the United States.

Support (if any)

K01HL135452, R01HL152453, R01HL142066, R01HL095799, R01AG072644, RO1MD004113, R01AG067523, R01AG075007
1170 Iron and Modafinil Efficacy
Authors: Rabah Hussein , Trotti Lynn Marie , Saini Prabhjyot , Rye David
Published: April 2024

Introduction

Central diseases of hypersomnolence (CDH) are lifelong disorders characterized by excessive sleep and daytime sleepiness. Treatment options include modafinil, armodafinil, psychostimulants, pitolisant, clarithromycin, and gamma-hydroxy butyrate. Although the mechanism of action behind efficacy is poorly understood, modafinil is often the first-line therapy. Modafinil’s efficacy relies upon the integrity of brain dopamine (DA) signaling: it increases extracellular dopamine by inhibiting the dopamine transporter (DAT), and genetic deletion of the DAT renders modafinil Synaptic dopamine signaling is further highly dependent upon brain iron availability, leading us to consider whether systemic iron deficiency might impact the efficacy of common wake-promoting agents in CDH.

Report of case(s)

A 30-year-old woman diagnosed with Idiopathic Hypersomnia (IH) at the age of 22 self referred to our sleep center expressing concern over the loss of her modafinil’s wake-promoting benefits. Her PSG/MSLT had shown a sleep efficiency of 96%, a mean sleep latency of 4.6 minutes, and a single SOREMp on her 2nd nap of 5. She was prescribed modafinil (200mg QAM increased to BID over the past year), which provided symptomatic relief for nearly a decade. Her laboratory work revealed 5% transferrin saturation, low ferritin level ( 7 ng/ml), and normal CSF iron and orexin levels of 33 ng/ml and 261.8 pg/ml, respectively; therefore, she was started on oral iron supplements. At 2 weeks follow-up, serum transferrin saturation and ferritin levels increased to 23% and 17 ng/ml, respectively. Follow-up CSF orexin level was 266.6 pg/ml , and repeat assessments of CSF iron parameters are pending. After iron repletion, modafinil was restarted and titrated over one week to 200 mg in the morning and 100 mg in the afternoon. Subjective sleepiness improved, as evidenced by the patient regaining confidence in driving safely in excess of 70 minutes continuously. Iron deficiency negatively impacts sleep, vigilance, and motor programs in human infants and impairs synaptic dopamine signaling in animal studies. This could explain why the patient responded to Modafinil after iron was repleted.

Conclusion

Pre-anemic and anemic iron deficiency should be considered a potential readily treatable cause of modafinil’s lack of efficacy by way of effects upon wake-promoting brain dopamine circuits.

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1171 Hypersomnia Secondary to Long Covid
Authors: Peth Dustin , Ibrahim Sally
Published: April 2024

Introduction

Recognition of Long Covid is increasing. In a recent meta-analysis in youth with Long Covid, the most prevalent clinical symptoms were mood (16.50%), fatigue (9.66%), and sleep disorders (8.42%). However, there is a paucity of data in the management of these symptoms.

Report of case(s)

We present a case of severe hypersomnolence after a mild Covid-19 infection in a 13 year-old female with no significant history, an acceptable age-appropriate sleep-wake schedule without nighttime awakenings or sleepiness prior to infection. Post-infection, she developed a one year history of sleep onset and maintenance insomnia, significant circadian delays, sleep inertia, brain fog and headaches. She was referred to sleep medicine and responded to treatment for a circadian rhythm disorder with sleep-wake restructuring, melatonin, and strict sleep hygiene. Sleep fragmentation, unrefreshing sleep, and hypersomnolence persisted; ESS=15/24. Sleep duration was often ≥12 hours in a 24 hour period. The patient could not wake easily, and often missed school or left early for sleepiness and headaches. A trial of gabapentin 200mg at bedtime failed. Sleep diagnostics were performed. Polysomnography showed no sleep disruptors, 8 hours of sleep, and some delayed slow wave sleep periods. Mean sleep latency testing (MSLT) showed MSL of 15.4min; 1 SOREM (nap #1). With a working diagnosis of hypersomnia due to medical condition vs. idiopathic hypersomnia, methylphenidate up to 36mg ER was trialed with some improvement. A recent adult case with Long Covid and ADHD-like syndrome also responded to stimulant use, though no guidelines are established for Long Covid. Oxybate was later added up to 2g once nightly which helped resolve sleep inertia, improve sleep quality and reduce sleepiness(ESS=4/24). She was able to return to school full time and reached normal functioning.

Conclusion

While the pathophysiology of Long Covid is still under investigation, symptom management of sleepiness can impact functioning. This case demonstrates a successful treatment of a patient with Long Covid and hypersomnolence with resolution of excessive sleepiness, morning inertia, and sleep fragmentation with a treatment approach similar to that of idiopathic hypersomnia, using an oxybate along with daytime stimulant use.

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1172 Hoops by Day, Ventilator by Night
Authors: Almeda Marco , Bauer Sarah , Bandyopadhyay Anuja
Published: April 2024

Introduction

Selenoprotein N-related myopathy (SEPN1-RM) is a rare congenital disorder often presenting in infancy or early childhood. Clinical sequelae frequently include progressive muscle weakness, spinal rigidity, respiratory insufficiency, and the need for nocturnal ventilatory support. Here, we describe a teenage athlete who presented with hypercarbia in the sleep lab, required tracheostomy for chronic mechanical ventilation, and was ultimately diagnosed with SEPN1-RM.

Report of case(s)

We present a 15-year-old male with a remote history of scoliosis repair and obstructive sleep apnea (apnea-hypopnea index [AHI] of 11.1/hour) with subsequent tonsillectomy and adenoidectomy at age 2 years. He had done well until age 15 years when he was referred to Sleep Medicine for morning headaches and daytime sleepiness. At evaluation, he reported working a physically demanding after-school job and playing on the basketball team without any issues. Repeat polysomnography showed an AHI of 88.8/hour, hypoxemia, and hypoventilation with an average transcutaneous carbon dioxide level of 82mmHg, prompting admission to the intensive care unit for further management. After failing non-invasive ventilation due to persistent hypercarbia, he underwent tracheostomy for nocturnal mechanical ventilation. He otherwise tolerated room air during the day. Other notable work-up included evidence of pulmonary hypertension on echocardiogram, oropharyngeal collapse on bronchoscopy, and restriction on pulmonary function tests. Whole exome sequencing eventually revealed SEPN1-RM. The patient was discharged after ventilator training and continues to follow outpatient.

Conclusion

To date, there is limited understanding on the pathophysiology and clinical course of patients with SEPN1-RM. Our patient’s development of severe obstructive sleep apnea necessitating mechanical ventilation, despite grossly preserved neuromuscular strength and a relatively late onset, does not follow the typical course of other pediatric neuromuscular disorders. His course adds to a small cohort of patients with this disorder and demonstrates its potentially wide clinical spectrum, suggesting further research is needed to better understand this disease process.

Support (if any)

None.
1173 Unmasking Severe OSA After Transvenous Phrenic Nerve Stimulation for Central Sleep Apnea
Authors: Jain Nikhita , Ibrahem Marwah , Rapoport David , Hiensch Robert
Published: April 2024

Introduction

In the absence of reversible etiology, central sleep apnea (CSA) may be treated with positive airway pressure (CPAP or BPAP), adaptive servo-ventilation, or supplemental oxygen. In 2017, a transvenous phrenic nerve stimulator (PNS), the remedē System™, was FDA-approved for moderate-to-severe CSA. Five-year outcomes data confirmed the device’s sustained efficacy, with improvements in symptoms, apnea-hypopnea index(AHI), and central apnea index(CAI). While the device effectively treats CSA, unrecognized upper airway obstruction may hinder clinical success. This case report describes a patient whose polysomnography (PSG) suggested candidacy for PNS; however, his airway collapsibility led to severe obstructive sleep apnea(OSA), unmasked after PNS implantation.

Report of case(s)

Our patient is a 74-year-old with longstanding severe CSA and chronic insomnia. He has a history of spasmodic dysphonia status post recurrent laryngeal nerve ablation. His unilateral vocal fold paralysis was followed by injection medialization for voice augmentation. He is also an asymptomatic carrier of myotonic dystrophy(MD), identified after his grandchild was diagnosed with MD. He presented to our institution for daytime sleepiness, disrupted sleep and snoring with complaints of PAP intolerance. PSG revealed an AHI4% of 49.1 events/hour with 0 obstructive apneas, 89 central apneas, and 53 unclassified hypopneas. Transthoracic echocardiogram was unremarkable. Pulmonary function tests were normal without evidence of neuromuscular weakness or extrathoracic obstruction. He underwent PNS implantation. Postoperatively, the patient continued endorsing unrefreshed sleep. His PNS titration study demonstrated prolonged flow limitation and an AHI4% of 35.2 events/hour with frequent obstructive events. He is now using a mandibular advancement device (MAD) with the PNS.

Conclusion

This case highlights the impact of upper airway collapsibility on PNS treatment response. Although our patient’s history may have indicated greater susceptibility to airway collapse, preoperative PSG did not reveal unequivocal OSA. However, frequent obstructive hypopneas were unmasked after PNS implantation. This patient’s upper airway collapse was underrepresented on PSG, and increased negative intrathoracic pressure during the PNS titration may have worsened the severity. Since differentiating central from obstructive hypopneas can be challenging, PNS may not be ideal for CSA patients with increased hypopnea burdens. If OSA emerges postoperatively, adjuncts like MAD, CPAP, or hypoglossal nerve stimulation may stabilize the upper airway.

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1174 Oromandibular/Faciomandibular Myoclonus; A Rare Sleep-Related Movement Disorder Captured on Polysomnography
Authors: Kramer Joshua , Garwood Mark
Published: April 2024

Introduction

Oromandibular myoclonus (OMM) also known as faciomandibular myoclonus (FMM) is a rare neurological sleep-related movement disorder characterized by involuntary and repetitive contractions of the facial muscles. Consequences of this disorder include nocturnal tongue and cheek biting, which can mimic signs of seizure disorders. This case report presents a patient with OMM/FMM which was captured on polysomnography.

Report of case(s)

The patient is a 25-year-old male with a medical history that includes hypertension, obesity (BMI 67), bipolar disorder, and headaches. He presented with the chief complaint of excessive daytime sleepiness. He also endorsed waking up with a sore tongue on nearly a monthly basis without obvious reason. He underwent a split-night polysomnogram with transcutaneous CO2 (TcCO2) monitoring which showed severe obstructive sleep apnea (apnea-hypopnea index of 114.6) and sleep related hypoventilation with TcCO2 levels greater than 55 mm of Hg for more than 10 consecutive minutes. During the titration portion of the polysomnogram, several very brief (less than 250 milliseconds) stereotypical jerk-like contractions of his jaw muscles with characteristics of myoclonus were observed during REM sleep. These occurred as isolated bursts and clusters of irregular bursts of three to five repetitive contractions. Increased amplitude in the submentalis EMG leads, as well as muscle artifact in the EOG and EEG channels were identified during events. EEG showed no epileptiform findings. REM sleep atonia was otherwise preserved.

Conclusion

Oromandibular/Faciomandibular myoclonus is a sleep-related movement disorder characterized by very brief (less than 250 milliseconds) forceful myoclonus of masticatory muscles in sleep. These can occur either as isolated bursts or as a cluster of regularly or irregularly occurring brief bursts. Pathophysiology is considered to be a form of brainstem reticular myoclonus, involving a circuitry of cranial nerve V and VII nuclei along polysynaptic pathways. Tongue biting is widely recognized as a useful clinical diagnostic tool for differentiating between epileptic seizures and nonepileptic events. OMM/FMM typically presents with recurrent nocturnal tongue biting, which can be misdiagnosed as nocturnal seizures. Therefore, appropriate awareness and recognition is important to avoid an epilepsy misdiagnosis which may result in lifelong anti-seizure medication use.

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1175 Alternative Treatment for REM-Sleep Behavior Disorder
Authors: Ballenberger Matthew , Koo Brian
Published: April 2024

Introduction

Rapid Eye Movement (REM) Sleep Behavior Disorder (RBD) is a parasomnia occurring during REM sleep, characterized by loss of normal REM sleep atonia and dream enactment behaviors. The majority of patients diagnosed with idiopathic RBD will develop an alpha-synucleinopathy neurodegenerative disease, which can complicate the treatment of RBD. First-line treatment with high-dose melatonin or clonazepam can have side effects of daytime sleepiness, dizziness, or nightmares, which can increase risk of harm to patients. This has led some patients to seek alternative treatments. We report a patient who successfully treated symptoms of RBD with edible tetrahydrocannabinol (THC) gummies.

Report of case(s)

A 67-year-old man presented to sleep clinic with symptoms of daytime sleepiness and dream enactment behavior including yelling, punching and kicking. He underwent a diagnostic polysomnogram that revealed moderate obstructive sleep apnea (OSA) but did not confirm dream enactment behavior or RSWA. He was diagnosed with RBD based on clinical criteria and started CPAP and melatonin 10 mg with initial reduction of dream enactment. At a subsequent visit he reported increased frequency of dream enactment behaviors with morning grogginess which caused him to stop melatonin and start marijuana gummies with 4.2 mg of THC purchased over-the-counter. Since starting this, his wife had reported complete resolution of dream enactment behavior.

Conclusion

Current first-line medications used to treat symptoms of RBD can cause unfavorable side effects of dizziness and daytime sleepiness which can negatively impact patients’ quality of life and compound progressive symptoms of neurodegeneration. Recent studies involving cannabinoids for RBD trialed the use of Cannabidiol (CBD), but showed no reduction in frequency of dream enactment symptoms. Our case illustrates an example of successfully using THC as an alternative treatment for dream enactment behavior, which may be more well-tolerated than first-line agents and is readily available over-the-counter in many states. A possible mechanism for the improvement in symptoms may be related to THC-predominant cannabis mediated reduction in total REM sleep and REM density. More studies are needed to determine if THC can be used as a viable alternative for treatment of RBD.

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1176 Extended Polysomnography Confirms Idiopathic Hypersomnia Diagnoses: A Case Series
Authors: Mouchati Christian , Alsheikhtaha Zahreddin , Foldvary-Schaefer Nancy
Published: April 2024

Introduction

Idiopathic hypersomnia (IH) is often underdiagnosed since at least 30-40% have normal mean sleep latency tests (MSLT) and test-retest reproducibility is poor. We report two cases of IH with multiple normal sleep evaluations diagnosed at Cleveland Clinic through extended polysomnography (PSG) using a 32-hr bed rest protocol as published by Evangelista et al., 2018.

Report of case(s)

Case 1: A 28-year-old female reported daytime sleepiness (Epworth Sleepiness Scale (ESS) 15), fatigue, sleep inertia, habitual sleep duration of 10-14 hr, brain fog and rare sleep-related hallucinations with symptom onset of 10 yr of age. PSG/MSLT evaluations at ages 13, 22 and 26 yr were normal, with MSLT mean sleep latencies (MSL) of 12.9, 15 and 16.8 minutes and 0 SOREMPs after normal PSG with adequate sleep. On extended PSG, total sleep time (TST) was 19.3 hr (1155 min) on the 32-hr recording and 13.1 hr (785 min) on the 24-hr recording. Case 2: A 42-year-old female reported excessive sleepiness (ESS 22), sleep inertia, memory and attention complaints, and rare sleep paralysis associated with sleep-related hallucinations beginning in the 2nd decade of life. Habitual sleep duration was 9.5 hr. PSG/MSLT evaluations at 40 and 41 yr were normal, with MLST MSL of 14.2 and 12.8 min and 0 SOREMPs and negative urine toxicology following normal PSG with adequate sleep and nocturnal sleep of 8-8.5 hr on actigraphy. On extended PSG, TST was 19.1 hr (1147 min) on the 32-hr recording and 11.7 hr (704 min) on the 24-hr recording.

Conclusion

We report two cases with IH phenotypes, multiple normal PSG/MSLT evaluations, and debilitating symptoms for over two decades. Both met the 19-hr cutoff for the diagnosis of IH using the 32-hr bed rest protocol based on published criteria and one met the 12-hr cut-off using the 24-hr protocol. This work illustrates the limitations of current IH diagnostic criteria and underscores the need to establish more accurate diagnostic test modalities for IH given the lack of biomarkers.

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1178 CASE REPORT – USE of WEARABLE OXIMETRY DEVICE to TITRATE HYPOGLOSSAL NERVE STIMULATION SETTINGS
Authors: Chaudhary Hira , Tashman Yasemin
Published: April 2024

Introduction

Obstructive sleep apnea (OSA) is characterized by repetitive airway narrowing or collapse during sleep. Hypoglossal nerve stimulation (HNS) is one alternative therapy. After device implantation and activation, it is patient-titrated based on symptoms. A sleep study then confirms effective settings based on an apnea-hypopnea index (AHI) below 5. Symptomatic control alone may not entail low AHI. Objective data with overnight oximetry during titration may help bridge this. We describe a patient in whom Wellue pulse oximeter was used during self-titration of the Inspire HNS.

Report of case(s)

A 63 year-old male presented in June 2022 for HNS evaluation due to gasping and witnessed apneas. AutoPAP trial had failed. In November 2022 diagnostic polysomnography revealed an AHI of 18 and lowest oxygen saturation (OS) of 80%. Sleep endoscopy in February 2023 confirmed no concentric collapse at the level of the velum. He underwent HNS implantation in May 2023 and activation in June. Initial sensation and functional thresholds were 0.6 volts. Amplitude range was 0.6 to 1.6 volts, pulse width 90 microseconds, rate 33 hertz, pause time 15 minutes, electrode configuration [+,-,+], and duration 8 hours. In July, he felt 0.7 volts controlled symptoms. A Watchpat home sleep study revealed an AHI of 46.2 and lowest OS of 82%. He purchased a pulse oximeter and was shown the oxygen desaturation index (ODI) at >3%. On increasing to 1.0 volts, oximetry revealed ODI 8.65 averaged over 4 nights. At 1.1 volts, ODI improved to 0.9-4.14. Since ODI was below 5, he had subsequent in-laboratory titration, revealing at 1.1 volts the residual AHI was 2.5. The lowest OS was 89% with a mean of 95%.

Conclusion

The post-activation procedure for HNS utilizes symptom-based self-titration. Sleep studies may reveal continued apnea despite self-reported symptom control. We suspect overnight oximetry during self-titration may improve efficacy. In this case, after self-titration with oximetry to decide an amplitude setting, home and in-laboratory sleep studies confirmed effective control. This preliminarily suggests that overnight oximetry used with HNS during the self-titration phase may improve titration outcomes as confirmed by formal polysomnography.

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1179 An Unshakeable Case of Refractory RLS- Androgen Receptor Inhibitor Therapy as a Cause of RLS Exacerbation
Authors: Baskaran Berty , Lipford Melissa
Published: April 2024

Introduction

Restless leg syndrome (RLS/WED) is a neurological sleep condition which is characterized by an uncontrollable urge to move an individual’s legs and sometimes arms when at rest. Symptoms typically arise in the evening and nighttime hours and can be associated with severe insomnia and negative impact on quality of life. Here we present a case of severe RLS/WED exacerbations temporally associated with androgen receptor inhibitor therapy.

Report of case(s)

A 58 year old male was referred to the sleep medicine clinic for refractory RLS/WED. He was previously treated with high dose ropinirole, which was associated with severe augmentation. Trials of gabapentin, pregabalin, tramadol, and hydrocodone were associated with persistence of severe symptoms. He was eventually treated with methadone at a dose of 10 mg in addition to Rotigotine patch at a dose of 2 mg, with adequate symptom relief. He was later diagnosed with prostate cancer, and initiated on enzalutamide, an androgen receptor inhibitor. Within two weeks of starting this medication, he had a severe exacerbation of his RLS symptoms and associated insomnia. The medication was discontinued, with subsequent abatement of RLS symptoms. He was then switched to apalutamide by his urologist (another androgen receptor inhibitor), but again developed severe RLS exacerbation. Dosing of the Rotigotine patch and methadone were increased to 4 mg and 12.5 mg daily respectively. In addition, he was started on pramipexole 0.25 mg, which was later increased to 0.5 mg, but he continued to have severe residual symptomatology. After discussing with his oncologist, he went on a trial of 3-4 weeks where apalutamide was discontinued. During this time, his RLS symptoms resolved, and he was sleeping well. He then restarted apalutamide and again experienced a similar a severe RLS flare.

Conclusion

Our case demonstrates an association between androgen receptor inhibitor therapy and RLS exacerbations. Further work is needed to understand the possible relationships between RLS and these common treatments for prostate cancer.

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1180 Restlessness Is a Pain: Methadone Induced Augmentation
Authors: Bliton Kyle , Jordan Melissa , Patterson Patricia , Warren Josh
Published: April 2024

Introduction

Characterized by a sensation of discomfort in the lower extremities during times of inactivity at night, relieved with movement, and resulting in sleep disturbances, restless leg syndrome (RLS) is a common concern addressed in Sleep Medicine. Providers are equipped with an array of effective non-medicinal and pharmaceutical treatment options including alpha-2-ligands, dopaminergic agents, and opioids. The phenomenon of augmentation is a well described complication of dopamine therapy in patients with RLS wherein symptoms intensify in severity and may spread to include the upper extremities. Here we describe an unexpected case of methadone induced augmentation in a patient with treatment refractory RLS.

Report of case(s)

Our patient is a 75 year old male who initially presented to our clinic in February 2021 with concern for a >10 year history of treatment refractory RLS. Patient exhibited symptoms typical for RLS with absence of daytime symptoms, muscle cramping, neuropathy, and lower back pain. He had undergone a sleep study in 2013 which demonstrated mild sleep apnea with an AHI of 6.4/hr and periodic limb movement disorder with a PLMI of 105.9/hr. Over the last several years he had failed multiple treatment regimens including low dose lorazepam, Lyrica, Baclofen, Amantadine, and Ambien all of which were ineffective. Both Gabapentin (titrated to 600mg maximum dose) and Mirapex were discontinued due to side effects including itching and constipation/anosmia respectively. Ropinirole was discontinued due to augmentation characterized by worsening symptom severity. Ferritin levels were optimized with iron supplementation. Non-medical interventions including efforts at improved hydration, a structured exercise regimen, and reduced caffeine intake were employed without symptom improvement. He would eventually be initiated on Methadone at a dose of 10mg with marked symptom improvement over the initial 2 months; however, symptoms would once again worsen and progress to involve his arms. Patient self weaned methadone to a 2.5mg dose with good response.

Conclusion

Though previously reported with Tramadol use, augmentation is rare phenomenon outside the use of dopaminergic agents. We were unable to find other reports of augmentation in the setting of methadone use; however, our patient exhibited worsening symptom severity and progression with improvement on dose reduction.

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