bluuebunny/crossref_metadata_2025_split huggingface dataset:
0971 Case Report: Sleep-Related Painful Erections Treated with Sodium Oxybate
Authors: Chaudhary Hira , Zeidman Eric , Punjani Nahid , Tashman Yasemin 
Published: May 2023

Abstract

Introduction
Sleep-related painful erection (SRPE) is a rare parasomnia characterized by painful penile erections during rapid eye movement sleep. Normal, painless erections continue to occur while awake. Approximately thirty cases have been reported in the literature. Multiple theories about potential pathophysiology have been proposed including neurologic dysfunction of the ischiocavernosus and bulbocavernosus, correlation with obstructive sleep apnea, and/or autonomic dysfunction. There is no known single effective treatment to date resulting in durable response despite multiple attempts at therapy.

Report of case(s)
A 39-year-old male presented with SRPE. This started in 2018 and occurred in the second half of the night every twenty minutes, contributing to discomfort and poor sleep quality. While awake, his erections were painless. He was prescribed baclofen at doses up to 30mg daily decreasing episode frequency to 1-6 times per night, but disabling somnolence precluded continuation. Pelvic physiotherapy was unhelpful while imipramine and clonazepam provided partial relief. Tadalafil was ineffective and cinitapride was not available in the United States. Oxycodone used for pain after a motor vehicle accident did effectively treat him for five hours per night, so morphine was trialed. This was effective for two weeks, but symptoms returned. In April 2022, he was begun on sodium oxybate. With an initial dose of 2.25 g twice nightly, symptoms were treated for four hours a night. After increasing to 2.75 g twice nightly, the SRPE was effectively treated. As of September 2022, he is taking sodium oxybate 3 g at bedtime, 3 g 3.5 hours later and the final 3 g at the 7th hour, promoting 9.5 hours of sleep without SRPE.

Conclusion
This 39-year-old male who presented with SRPE was trialed on multiple therapies without success, and ultimately successfully treated with an appropriate and titrated dose of sodium oxybate. This may represent a new treatment option, which we hypothesize may act by modulating GABA to result in relaxation of the bulbospongiosus and ischiocavernosus muscles. Further studies should include the study of both the efficacy of this drug for SRPE as well as potential mechanisms of action.

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0983 Hand Dominance in Sexsomnia: A Clue to Pathophysiology?
Authors: Badami Varun , Avidan Alon , Schenck Carlos 
Published: May 2023

Abstract

Introduction
Sexsomnia is a variant of confusional arousal, a NREM parasomnia (NREMP), typically consisting of sexual behaviors manifesting upon partial arousal from deep NREM sleep; however, its pathophysiology is not well understood, and literature is limited. We present a series of patients with non-dominant hand sexsomnia behaviors that may reveal important new clues about the neurophysiologic mechanisms of sexsomnias.

Report of case(s)
Case 1: 22 y/o right-handed (RH) female, no history of NREMP, or snoring. Presenting complaint (PC): 8-year history of sleep masturbatory behavior (MB) including partial awakening from MB with bloody fingers (left hand) during her menstrual period in the setting of delayed sleep phase disorder. Case 2: 30 y/o ambidextrous male with a history of NREMP. PC: MB involving the left hand, observed by bed partner (BP) in the setting of weight gain and apneas. PSG: AHI 17/h and PLMI 23/h. Case 3: 33 y/o RH female with a history of NREMP. PC: left-handed sleep MB observed by BP in the setting of multiple sclerosis with C2-3 and C4 right posterolateral demyelinating lesions on C-spine MRI. Case 4: A 44 y/o RH male with OCD, depression, and no history of NREMP. PC: bilateral MB and dream enactment behaviors observed by BP, in the setting of sertraline. Events resolved upon switching to quetiapine. Case 5: A 59- y/o RH female with multiple system atrophy (MSA) and RBD, no previous NREMP. PC: sleep MB, noted by BP involving the left hand in the setting of worsening dysautonomia. Dream enactment occurred bilaterally. PSG: AHI 34/h, PLMI: 70/h and REM sleep without atonia. Spells improved with melatonin and PAP.

Conclusion
This case series highlights a pattern of adult sleep MB involving the non-dominant (left) hand in 4/5 cases and the left hand in one ambidextrous patient. There was no evidence of gender predilection. We speculate that sexsomnia originates from central pattern generators in the brainstem and spinal cord, as opposed to the cerebral cortex (which would likely involve the dominant hand). The lack of involvement of cerebral motor control is further substantiated by amnesia for sexsomnia events.

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0985 Oxybate induced mania
Authors: Barber Cameron , Czuma Richard , Campbell Kimberly , Thomas Robert 
Published: May 2023

Abstract

Introduction
Hypersomnia sleep disorders are characterized by overwhelming daytime sleepiness. Treatment options include sodium oxybate the sodium salt of γ-hydroxybutyric acid (GHB). Oxybate, an endogenous metabolite of GABA, acts through GABAB noradrenergic and dopaminergic neurons, as well as at thalamocortical neurons. &lt; 1% may experience suicidal ideations or psychosis.

Report of case(s)
A 17-year-old female with obesity, spina bifida occulta follows with sleep for idiopathic hypersomnia with long sleep (TST 12.6 hours on polysomnography) and a delayed circadian rhythm. Her typical sleep zone is 11:00PM to 10:00AM, but she can easily sleep until 2:00PM. She started sodium oxybate to minimize her sleep burden and improve daytime wakefulness. She initially developed insomnia with concern for mania and migraines with photophobia and phonophobia. After 26 days, oxybate was discontinued. Her migraines persisted daily. Her sleep schedule and mood returned to baseline within 17 days thereafter. A 48-year-old female with anxiety/depression, PTSD has follows with sleep since age 42 for unspecified hypersomnia, either narcolepsy type 1 with long sleep versus idiopathic hypersomnia. Initial polysomnography/MSLT on fluoxetine revealed AHI 1.6, with a mean sleep latency of 6.4 minutes without SOREMPs. Her typical sleep zone was 8:00PM to 9:00AM. She was started on sodium oxybate for her cataplexy and daytime sleepiness. She had remarkable improvement in her symptoms after 4 days. After 35 days on 9 grams nightly she developed anxiety, extracorporeal sensations, and paranoia. The dose was decreased to 7.5 grams nightly. By 7 months of therapy her paranoia progressed to the point where she threatened her landlord and was facing legal consequences. Sodium oxybate was discontinued. At 53-years-old she was trial on mixed-salts oxybate. After three months of therapy, she became hypomanic with severe pressured speech despite a euthymic mood. She reported going without sleep entirely for 3-4 days at a time using this oxybate. Mixed-salts oxybate was discontinued and 36 days later with in addition to quetiapine, her hypomania was nearly resolved and she was able to get 8-9 hours of restful sleep.

Conclusion
Hypomania appears to be a rare but serious side effect of oxybate in long-sleepers. Discontinuing oxybate may not be sufficient therapy.

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0991 Dual Therapy to Treat Circadian Rhythm Disturbance in Unique Genetic Mutation of Smith-Magenis Syndrome
Authors: Cocozza Victoria , Kim David , Long Benjamin , Hansen Shana 
Published: May 2023

Abstract

Introduction
Smith-Magenis syndrome (SMS) is a rare disorder associated with several genetic mutations. Patients with SMS experience circadian rhythm sleep-wake disorders, which may lead to significant behavioral concerns. A proposed etiology of sleep disturbances is diurnal melatonin secretion. Treatment approaches aim at blocking the abnormal morning secretion of melatonin and providing exogenous melatonin in the evening.

Report of case(s)
We present a patient with SMS having persistent sleep-wake disturbance despite dual therapy with beta-1 adrenergic antagonist in the morning and over-the-counter melatonin at night. Our patient switched to therapy with beta-1 adrenergic antagonist in the mornings and melatonin receptor agonist, tasimelteon, at night with significant improvement. In addition, our patient has mutations in JAKMIP1 and ZBTB18 genes. ZBTB18 mutation is a novel mutation in the setting of clinical features of SMS.

Conclusion
To the authors’ knowledge, this is the first case report of successful combination therapy to optimize treatment of sleep-wake disturbances in patients with SMS.

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0995 Sleep-related Hypoventilation in a 62-Year-Old Female with a Rare Genetic Neuromuscular Disorder
Authors: Gadodia Ritika , Dorsch Jennifer , Mora Jorge 
Published: May 2023

Abstract

Introduction
Central Core Myopathy (CCM) is a rare genetic neuromuscular disorder involving a mutation in the ‘Ryanodine Receptor’ (RyR1) gene, also known as the gatekeeper of calcium within the muscle cells. CCM typically manifests as slowly progressive proximal muscle weakness Currently, there is limited data regarding the management of nocturnal hypoventilation in adults with neuromuscular disorders.

Report of case(s)
We present a 62-year-old woman with CCM, as identified via RyR1 mutation (c14818G&gt;A) on genetic testing, as well as muscle biopsy. This genotype is associated with &lt; 10% respiratory muscle involvement. She presented to the sleep clinic with complaints of morning headaches, non-restorative sleep, and daytime sleepiness. Her polysomnogram (PSG) showed an overall Apnea-Hypopnea-Index in the normal range. However, there was a progressive increase in transcutaneous carbon dioxide levels (PtcCO2), reaching a peak of 53 mmHg during rapid eye movement (REM) sleep from 38 mmHg during wakefulness, consistent with sleep-related neuromuscular hypoventilation. On further evaluation, this patient had no evidence of neuromuscular restrictive lung physiology or overt diaphragmatic dysfunction, as suggested by &lt; 20% variation in the supine forced vital capacity. Moreover, her negative inspiratory force (NIF) value was not less than negative 40. However, in the setting of her sleep-related symptoms and evidence of nocturnal hypoventilation, our team decided to trial non-invasive positive pressure ventilation (NIPPV). Since we had concerns about respiratory alkalosis in NREM sleep in the setting of normal body mass index, normal pulmonary function tests, and hypoventilation limited to REM sleep, the patient was sent for in-lab titration of pressures with measurement of PtcCO2 to appropriately recommend NIPPV settings. The study demonstrated bi-level positive airway pressure settings of IPAP 7 cmH20, EPAP 5 cmH20, and a backup rate of 12/min resulting in sustained eucarbia and steady PtcCO2 levels during both REM and NREM sleep.

Conclusion
This case highlights the importance of evaluation for nocturnal hypoventilation in symptomatic patients with rare neuromuscular disorders and the potential for symptomatic improvement with treatment with NIPPV. Moreover, the case demonstrates the importance of in-lab titration of pressure settings for NIPPV when hypoventilation is limited to REM sleep, due to concern for iatrogenic hyperventilation and respiratory alkalosis.

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0998 Duloxetine as a Possible Effective Treatment of Klein-Levin Syndrome Case Report
Authors: Hall Samuel , Ibrahim Sally 
Published: May 2023

Abstract

Introduction
Kleine Levin Syndrome (KLS), or recurrent hypersomnia, is a rare sleep disorder characterized by recurrent episodes of severe hyper-somnolence lasting several days to several weeks. Because the etiology is unknown, treatment is mostly supportive. Some pharmacologic agents have been attempted to treat symptoms during episodes with limited success.

Report of case(s)
Patient is a 17 year-old with a history attention-deficit hyperactivity disorder and generalized anxiety disorder who presented to the clinic due to recurrent episodes of severe hypersomnolence associated with derealization and cognitive dysfunction during all episodes, anxiety of being alone, and other symptoms in some episodes such as altered taste affecting appetite, and binge eating. The patient was diagnosed with KLS and tracked episodes which lasted 11-12 days (average) with recurrence every 10-17 days. Labs, 72 hour EEG, MRI and MRA were largely unremarkable. The family declined trial of Lithium. Pharmacogenetic testing showed significant gene-drug interaction with duloxetine requiring higher drug dosage for effects. After psychiatry started duloxetine, the patient experienced a 7 month period without episodes. Then episodes recurred for unclear reason while on duloxetine but with slightly less duration (6-12 days) and shorter time between episodes. Duloxetine was discontinued due to lack of mood effects. Clarithromycin was trialed next for use during episodes without changes. Episodes were tracked for several months with some predictability. Duloxetine was restarted a second time after several months, and the patient showed mild improvement in event duration down to 8-11 days for a few months. Time between episodes also shortened to 8-10 days. Anxiety was only slightly reduced between and during the episodes, though they still continued to struggle with derealization and ability to focus during episodes that effected school and work functioning. Interestingly, they also started to have more insomnia between episodes while on duloxetine.

Conclusion
KLS is a rare disorder with limited data on effective treatments. To date, this is the first report of a prolonged brief KLS remission with duloxetine. Norepinephrine and serotonin modulation may limit episode duration. More research is needed to determine whether duloxetine can modulate the effects of KLS.

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1004 A novel use of adaptive servo ventilation for VNS-induced central sleep apnea in an adolescent with refractory epilepsy
Authors: Jones Brandon , Matarese Christine , Wong-Kisiel Lily , Baughn Julie 
Published: May 2023

Abstract

Introduction
Epilepsy is frequently encountered in the pediatric population and some patients are treated by stimulation of the vagus nerve to reduce their seizure frequency. Vagus nerve stimulation (VNS) may induce central sleep apnea. Adaptive servo ventilation is a known treatment option for central sleep apnea in certain adult patients with heart failure and Cheyne-Stokes respiration but is infrequently utilized in the pediatric population.

Report of case(s)
A 17-year-old male with a history of intractable generalized epilepsy, VNS placement, obstructive sleep apnea (OSA) and central sleep apnea (CSA) presented to our tertiary care center for management of his sleep disordered breathing. Initial management of sleep disordered breathing included CPAP for OSA. After VNS placement, the patient began to have a high residual apnea-hypopnea index on data card download of his CPAP. Polysomnography (PSG) was performed on CPAP and CSA events were noted that correlated with VNS firing. BiPAP was titrated and was unsuccessful in treating the CSA. VNS adjustment did not impact the sleep disordered breathing. Repeat titration with adaptive servo ventilation successfully treated the OSA and CSA. In follow up, the patient is tolerating ASV with improvement in his nocturnal sleep disordered breathing events and his daytime functioning.

Conclusion
Central sleep apnea can be induced by vagus nerve stimulation. This unique case documents successful treatment of vagus nerve stimulation induced central sleep apnea by adaptive servo ventilation in an adolescent patient.

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1008 Excessive daytime sleepiness in myotonic dystrophy treated with modafinil
Authors: Lee Ian , Hekmat Anahid 
Published: May 2023

Abstract

Introduction
Physiology of excessive daytime sleepiness (EDS) in myotonic dystrophy type 1 (DM1) remains incompletely understood and best practice treatment approaches are unclear.

Report of case(s)
We present a 73-year-old man with atrial fibrillation, implantable cardioverter defibrillator for inducible ventricular tachycardia, hypertension, and severe obstructive sleep apnea (OSA) was referred after a recent diagnosis of myotonic dystrophy type 1 (DM1) for EDS. He presented with foot pain, balance issues, and falls. A subdural hemorrhage from a fall prompted thorough evaluation including electromyography. This showed length-dependent polyneuropathy type pattern with features of subacute and chronic denervation change and myotonic discharges in right vastus medialis and bilateral tibialis anterior and gastrocnemius muscles. Myotonic Syndrome Advanced Evaluation revealed with a repeat expansion mutation in DMPK gene (85 and 13 CTG repeats). He was previously diagnosed severe OSA with an AHI of 64 and titrated onto bilevel. He recalled no improvement in symptoms with bilevel. He noted sleeping 10-12 hours per night and feeling rested. However, he takes multiple times per day for hours at a time. When actively working on tasks he feels alert and focused. Epworth sleepiness scale (ESS) was 12. Polysomnogram on bilevel followed by MSLT demonstrated control of OSA and mean sleep onset latency of 8 minutes and 5 sleep onset REM periods. With relatively little impairment and a desire for intermittent improved wakefulness, he was started on modafinil 200mg daily as needed. He reported a robust response to modafinil without the need for additional naps or cardiac complications thus far. Repeat ESS only improved to 10.

Conclusion
This case highlights the need for a precision medicine approach as subpopulations exist even within the specific diagnosis excessive daytime sleepiness in myotonic dystrophy. People with DM1 have been similarly reported with little improvement in ESS but dramatic subjective improvement in symptoms with modafinil. A Cochrane Review and a European Medicines Agency recommendations on modafinil are not supportive of its use in DM1 despite a subpopulation with a clear response. Interestingly, clinical measures do not seem to predict response to modafinil, suggesting unmeasured and, potentially, varied pathologies of excessive daytime sleepiness in DM1.

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1020 Modafinil Induced Psychosis
Authors: Patel Harvey , Patel Harvey 
Published: May 2023

Abstract

Introduction
Modafinil has been used for the treatment of numerous different conditions, including daytime somnolence (EDS). Modafinil is a non-amphetamine central nervous system (CNS) stimulant with wakefulness-promoting properties. There have been few reported cases of psychosis associated with modafinil use, however a large majority of those were seen in patients with a history of primary psychiatric disturbances.

Report of case(s)
We present a case of a 48 year old female coming for evaluation of excessive daytime somnolence. She completed polysomnography and a multi sleep latency test (MSLT) which revealed mildly elevated AHI, but no sleep onset rapid eye movements (SOREMPs). A diagnosis of idiopathic hypersomnia was subsequently made and 200mg of modafinil up to twice daily was prescribed for her. Patient initially tolerated the modafinil well, however she began having delusions and she subsequently required psychiatric evaluation. These delusions primarily consisted of her believing she was under surveillance and had conspiracy theories against her. She also described having auditory hallucinations as well, especially voices telling her about these conspiracy theories. She also demonstrated poor insight into her medical condition as she refused to discontinue modafinil. Upon evaluation, routine labs including complete blood count, chemistry profile and urine drug screens were completed to rule out any secondary causes of psychosis. It was therefore recommended by psychiatry to discontinue modafinil as there was concern that the delusions were occurring secondary to medication use. The patient's psychotic delusions seemed to dissipate after this. A multidisciplinary meeting was held regarding management of patients' excessive daytime sleepiness (EDS) and a decision was made to begin the patient on pitolisant, a histamine receptor antagonist. The patient was able to achieve great benefit with this medication.

Conclusion
The presented case illustrates a patient who began having psychosis after beginning modafinil 200mg twice daily. Psychosis is a much more rare side of modafinil and providers should become aware of it. Therefore, patients who are prescribed modafinil should be carefully followed for psychosis development, even when they are previously healthy and have no history of any primary psychiatric conditions.

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1024 A Challenging Inspire Case: All Roads Do Not Necessarily Lead to Rome
Authors: Call Justin , Punj Mantavya , Werninck Natalia , Colaco Clinton , Arunthari Vichaya , Colaco Brendon 
Published: May 2023

Abstract

Introduction
Hypoglossal nerve stimulation (HNS) for the treatment of obstructive sleep apnea (OSA) in patients who have failed positive airway pressure (PAP) therapy for one reason or the other is now standard of care. Once the device is implanted and activated, voltage to stimulate the nerve has to be titrated over time, ultimately leading to an HNS titration study. There are 4 possible electrode configurations to stimulate different fibers in the nerve that can be employed for treatment. We present a case of a patient who was a challenge with worsening of OSA with Inspire.

Report of case(s)
A 65-year-old woman with hypertension, and severe OSA, intolerant of positive airway pressure or oral appliances was implanted with Inspire. Post activation, there was symptomatic improvement with reduction of overall apnea-hypopnea index (AHI) from 34 per hour of sleep to 6.3 per hour. However, patient slept exclusively on the sides with evidence of significant residual disease in REM sleep. During subsequent weeks, patent reported inability to restrict position and discomfort and anxiety associated with up titration. Both awake endoscopy and advanced overnight HNS titration were pursued. All 4 electrode configurations were tested during both procedures. With the exception of (minus-plus-minus) configuration, there was worsening of sleep disordered breathing and higher residual AHI of 60 per hour on polysomnography and evidence of poor tongue motion and collapsed velopharynx on awake endoscopy. Inspire settings were readjusted to (minus-plus-minus) configuration with instructions for very slow outpatient uptitration and co-management of anxiety and discomfort with anxiolytics and sleep aids.

Conclusion
We make two important conclusions from this case. Firstly, although there are established criteria for patient selection for hypoglossal nerve stimulation therapy, certain other factors that impact success which are not as easily defined include the patients’ expectations, tolerance of discomfort, propensity to anxiety and personality type which impact the ability to successfully titrate voltage with the Inspire device over time. Secondly, as the tongue is a complex muscle, both under titration and over titration may be counterproductive and additionally, electrode configuration may also have varying effects on tongue protrusion and impact success.

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