bluuebunny/crossref_metadata_2025 huggingface dataset:
0977 Bilateral thalamic strokes presenting as acute hypersomnia
Authors: Alattar Maha , Nguyen Tri
Published: May 2023

Introduction

Acute hypersomnia is a rare presentation of bilateral paramedian thalamic strokes (PTS). The typical symptoms of vertical gaze palsy, memory impairment, and even coma, do not include acute hypersomnia. Hypersomnia can be normal in appropriate settings. However, acute hypersomnia from a wake state is abnormal and should alert observers to a potential stroke, making timely intervention consequential to patient’s outcome.

Report of case(s)

A 59-year-old right-handed female, who was a passenger in a car, suddenly fell asleep and started snoring. Her sister, as the driver, was not able to arouse her. The patient was taken to the Emergency Department for further evaluation. Initial head CT was normal. Follow up MRI of the brain demonstrated bilateral PTS with extension to rostral midbrain (Axial images are available with DWI/ADC windows). Throughout her five-day-hospitalization, she remained somnolent without improvement. Her neurological exam was significant for decreased alertness, impaired short-term memory recall, vertical gaze palsy, and difficulty with two-step commands. She had no focal weakness or numbness. Electroencephalogram (EEG) showed generalized theta slowing background without seizure or epileptiform discharges. Cerebral and neck vessel images, cerebrospinal fluid studies, echocardiogram, and hypercoagulable tests were normal. Outpatient workup revealed atrial fibrillation, which was the strokes’ presumed etiology. She was also diagnosed with obstructive sleep apnea (Apnea-Hypopnea Index of 9.6) and was treated with CPAP. Despite compliance, her hypersomnia (Epworth Sleepiness Scale of 24) and cognitive dysfunction persisted, making a resumption of her prior employment not feasible. Bilateral PTS commonly stem from the artery of Percheron (AOP), which is a rare vascular variation where a single artery arises from the posterior cerebral artery to supply both thalami and midbrain.1 Ischemic disruption of the thalami’s dual role in sleep-wake regulation can lead to decreased daytime arousal and increased nighttime sleep disturbance with subsequent hypersomnia.2,3 Vertical gaze palsy is due to disruption of descending pathway of vertical gaze center.

Conclusion

Bilateral PTS have deleterious long-term clinical consequences. Increased recognition of acute hypersomnia as the presenting symptom for PTS can enhance acute stroke treatment with tPA and/or mechanical thrombectomy, and thereby improve the odds for recovery.

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0979 Obstructive Sleep Apnea in a Patient with Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS)
Authors: Andani Sameer , Camacho Jessica
Published: May 2023

Introduction

Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a rare disorder caused by an autosomal recessive biallelic pentanucleotide repeat expansion in the replication factor C subunit 1 (RFC1) gene. Clinical features include gait disturbances, impaired vibratory sensation, autonomic dysfunction, cough, and slow disease progression. Spinocerebellar ataxias are frequently associated with sleep disturbances, including REM sleep behavior disorders, insomnia, obstructive sleep apnea (OSA), and central sleep apnea. This is thought to be secondary to involvement of several nervous system structures including the cerebellum. OSA is caused by repeated obstruction of the pharyngeal airway leading to sleep disturbances and fatigue. It is likely that cerebellar insults such as CANVAS may play a role in upper airway obstruction and resultant OSA. However, there is little characterization of this relationship in the medical literature.

Report of case(s)

We report a case of a 52-year-old female with a past medical history of CANVAS, anxiety, and depression who was referred to sleep medicine for evaluation of worsening daytime fatigue and fragmented sleep. She reported daytime sleepiness, morning headaches, and gasping arousals. Her Epworth sleepiness scale score was markedly elevated at 19 (normal < 10), and she was subsequently referred for home polysomnography testing for sleep apnea. Home sleep testing revealed an apnea-hypopnea index of 12.5 events/hour and a minimum oxygen saturation of 85%.

Conclusion

This patient is at higher risk for sleep disruption due to her diagnosis of CANVAS. She presented with excessive daytime sleepiness and was found to have mild OSA on home sleep testing. Little is known about the presentation of OSA in patients with CANVAS. OSA treatment has the potential to improve sleep symptoms, quality of life, and mood disruption in this patient with an otherwise progressive and disabling neurologic disorder. Therefore early recognition and intervention of OSA are important in the care of patients with CANVAS. Given the disease’s progressive nature and lack of a cure, it is necessary to ameliorate quality of life however possible. OSA leads to persistent fatigue and may result in psychiatric disturbances, therefore, it is necessary to address sleep disturbances secondary to movement disorders to combat these outcomes.

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0980 A Child with Achondroplasia, Cervicomedullary Junction Compression, Severe Obstructive Sleep Apnea and Pulmonary Hypertension
Authors: Ariail Ellen , Malhotra Sonal
Published: May 2023

Introduction

Achondroplasia is a short stature autosomal dominant skeletal dysplasia. Children with Achondroplasia are at risk for multiple medical comorbidities including sleep disordered breathing due to midface hypoplasia and craniocervical junction compression. Recent guidelines from American Academy of Pediatrics on health supervision of children with achondroplasia recommend routine clinical screening for symptoms of obstructive sleep apnea (OSA) and craniocervical junction compression in which case a polysomnogram should be considered.

Report of case(s)

The patient is a now 15 month old male who was initially seen in sleep medicine clinic at age 4 months for snoring and respiratory distress while awake. Polysomnogram 2 days later demonstrated severe OSA. The study demonstrated an oAHI of 25.1/hour, O2 nadir of 77%, and TcCO2 with evidence of significant hypoventilation with TcCO2 max of 67mmHg. This was adequately treated with supplemental oxygen. The patient subsequently presented to the emergency department at age 7 months with hypoxemic respiratory failure and signs of right heart failure and was started on CPAP. Echocardiogram demonstrated significant pulmonary hypertension. Subsequent CPAP titration study during admission demonstrated adequate treatment of OSA and his pulmonary hypertension significantly improved with the patient requiring no pulmonary hypertension treatment at discharge. At age 9 months, the patient was again admitted with hypoxemic respiratory failure and subsequent brain MRI demonstrated foramen magnum stenosis requiring subsequent surgical decompression. He was discharged on CPAP, however, was not tolerating this at home. Therefore, repeat polysomnogram was obtained that demonstrated severe OSA that was not responsive to supplemental oxygen. The patient was then started on BPAP therapy which he has since been tolerating well.

Conclusion

Children with achondroplasia are at increased risk for sleep disordered breathing and craniocervical junction compression. Our patient experienced significant complications from OSA at a young age. His sleep apnea worsened significantly in a short period making it unresponsive to previous treatment recommendations. There is a need for further studies to determine better screening guidelines for craniocervical junction narrowing and OSA. This case highlights the dynamic nature of sleep disordered breathing in achondroplasia and need for close follow up and monitoring of symptoms at all clinical encounters.

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0984 Near Drowning: A Complex Case of Somnolence and Weakness
Authors: Badami Varun , Jun Dale
Published: May 2023

Introduction

Narcolepsy is a disorder of sleep characterized by pathologic daytime sleepiness classically divided into two major subtypes – those with or without cataplexy. The underlying pathophysiologic mechanism is thought to be related to hypocretin/orexin; pathologically low levels of hypocretin characterize narcolepsy with cataplexy. We present a complex case of weakness in a patient evaluated for narcolepsy.

Report of case(s)

A 38 year-old male with a BMI of 33 presented with a decade of daytime sleepiness and sudden debilitating attacks of muscle weakness. He underwent level III home sleep testing revealing a respiratory event index of 5.3/h. After an unsuccessful trial of mandibular advancement, he was started on positive airways pressure (PAP) but continued to experience daytime sleepiness and episodes concerning for cataplexy including sensation of legs feeling stiff and falling with stress. He also described episodes of weakness while swimming with inability to stand or stabilize, prompting evaluation for narcolepsy with cataplexy. Sleep diary showed average nightly sleep of 6.5 hours, low sleep latency, and refreshing napping. He underwent PSG while using CPAP 8 cm H2O showing AHI 0.2/h, sleep time 6.2 hours, sleep latency 5.5 minutes and REM latency 33 minutes with evidence of REM sleep without atonia. He underwent MSLT showing a mean sleep latency of 7.6 minutes and 3/5 REM sleep onset periods. Therapeutic trials of venlafaxine and pitolisant did not result in symptomatic improvement, and further genetic testing with HLA DQB-1 was negative. CSF hypocretin measurement was normal (329 pg/mL, reference > 200 pg/mL). These effectively ruled out cataplexy as the cause of his weakness. He continued on PAP therapy, venlafaxine, and modafinil 200 mg for hypersomnia/narcolepsy without cataplexy with good response.

Conclusion

We present a complex case highlighting the utility of HLA and confirmatory CSF testing in the evaluation of cataplexy with episodes of acute weakness accompanying stress and strong emotion, with particularly dangerous events during swimming. Due to lack of therapeutic response despite positive MSLT, further testing with HLA and CSF hypocretin were pursued. This case highlights the limitations of history alone in the diagnosis of cataplexy, and the utility of advanced testing.

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0986 The Kid Who Slept in Detention: Delayed Narcolepsy Type II Diagnosis
Authors: Bhamrah Paul , Zaman Jefrina , Rosales William , Koothirezhi Rupa , Monceaux Brittany , Ghildiyal Naomi , Liendo Cesar , Chernyshev Oleg
Published: May 2023

Introduction

Narcolepsy is a sparsely found disease with a prevalence of 0.02-0.07% worldwide. Most patients are diagnosed much later than symptom onset with a gap of several years to even decades. The inability to diagnose and lack of awareness of narcolepsy leads to poor quality of life for the patient and family, poor school performance, and increased medical and socioeconomic burden. Hence, we report a case of a child inflicted with these woes looking for an improved quality of life.

Report of case(s)

A 12-year-old boy with past medical history of mild intermittent asthma, tonsillectomy, and adenoidectomy, initially presented to Allergy-Immunology for asthma management where it was revealed he was dealing with snoring and excessive daytime sleepiness since age 9. Patient was sent for Polysomnography (PSG) which revealed an Apnea Hypopnea Index (AHI) of 0.4 and Oxygen Nadir of 91%. Patient was referred to Pediatric ENT for evaluation, but further surgical intervention was not indicated. Patient continued to deal with excessive daytime sleepiness (Epworth Sleepiness Scale of 20/24) and multiple detention visits due to sleeping in class. Mother was distressed from daily conversations with school officials. Patient was referred to Sleep Medicine and found to have no cataplexy episodes, episodic symptoms, hypersexuality, or hyperphagia. Multiple Sleep Latency Test (MSLT) was ordered. Patient’s PSG night prior to MSLT revealed an AHI of 0.8 and Oxygen Nadir of 91%. Urine Drug Screen prior to MSLT was negative. MSLT revealed 2 naps demonstrating Sleep-Onset REM Periods and average mean sleep latency of 5 minutes. Patient was started on Methylphenidate ER 10mg with increase in alertness. Further treatment modification and workup is ongoing.

Conclusion

Our patient experienced a delay in diagnosis of nearly three years. The patient dealt with multiple detention visits and the mother experienced harassment from the school. Increasing awareness in the school system and patient population is necessary to mitigate prejudice against the pediatric narcolepsy population. Furthermore, increased research into new biomarkers and technologies for Narcolepsy type symptoms will be critical to decreasing the gap in diagnosis.

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0989 Hello From the Other Side: A Grandmother’s Eternal Love
Authors: Chun Victor , Avidan Alon
Published: May 2023

Introduction

Sleep-related hallucinations (SRH) may arise at sleep onset or on awakening from sleep and represent sleep-state dissociation with the abnormal intrusion or persistence of dreams into wakefulness. These multisensory experiences are usually visual but may be tactile and colored by emotions such as grief. We describe a patient who presented with episodes of visual and tactile hallucinations of being comforted by his late grandmother at sleep onset shortly after her death.

Report of case(s)

A 20-y/o male with a history of autism spectrum disorder (ASD) presented with sleep onset insomnia related to disturbing multisensory hallucination temporally associated with the passing of his grandmother two years earlier. He sleeps for 5 hours nightly and experiences more frequent spells when sleep-deprived. The spells manifest within an hour of sleep onset and consist of the patient experiencing quasi-visual and tactile sensations of his grandmother wrapping her hands through his hair and hugging him. The episodes are associated with longing and sadness as this was customary for his grandmother as she comforted him to sleep when she was alive. The patient’s interpretation was that the episodes might represent his grandmother's attempt to communicate with him and keep him safe. Polysomnography depicted REM sleep latency of 107 minutes without evidence of REM sleep without atonia. There was no evidence of obstructive sleep apnea.

Conclusion

Sensory and quasi-sensory experiences of the deceased (SED) is an inclusive and neutral term used to describe multisensory experiences of the presence of the deceased. Phenomenologically, post-bereavement hallucinations are more closely aligned with the ICD-3 classification of SRH. The patient’s spells of SED were likely facilitated by sleep deprivation. Emerging data also supports the presence of unusual somatosensory experiences leading to supernatural attribution to these experiences in ASD. With the passing of his grandmother, the combination of grief and sleep deprivation along with altered central sensory processing likely contributed to the SED. SED and SRH represent a spectrum of abnormal hallucinations following bereavement and are facilitated by sleep deprivation. In ASD, the episodes might emerge in response to altered central limbic sensory processing and represent an important mechanism of impaired REM sleep in Autism spectrum.

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0993 A Senseless Sensing Lead: A Case Of Failed Sensing Lead In Hypoglossal Nerve Stimulator
Authors: Fekete Andrea , Grover Aarti , He Wei , Oster Joel , Ostrow Peter , Schumaker Greg , Wein Richard , Zacharias Rajesh
Published: May 2023

Introduction

The hypoglossal nerve stimulator (HGNS) is an implanted device used to treat moderate to severe obstructive sleep apnea (OSA), offering an alternative form of therapy to continuous positive airway pressure. Currently, the Inspire® Upper Airway Stimulation (UAS) system is the only such device approved by the U.S. Food and Drug Administration (FDA).

Report of case(s)

We present a case of sensory lead malfunction in a 54-year-old man with moderate OSA who underwent HGNS implant in 2018 with the three-incision method and the sensory lead positioned in the 6th intercostal space. December 2022, the patient presented with right sided chest pain and subjective fever at outside hospital. A CT chest performed was significant for trace right sided pleural effusion and concern for pleural penetration of the sensory lead. Device interrogation in our office showed increased impedances and abnormal waveforms prompting discontinuation of therapy and scheduling a surgical revision. He denied any trauma, injury to the area and had been doing well overall but did feel as if the device wasn’t syncing appropriately with his breathing. In addition, his most recent sleep study on fairly high amplitude of 3.6V had persistent severe supine disease. During the surgery, the sensory lead was noted to be in its original placement site with intact anchors and sutures holding it in place. After the lead was removed there was noted to be a discoloration deep to the protective covering suggesting potential lead failure related to compromise of device.

Conclusion

Since its FDA approval in 2014, over 20,000 HGNS devices have been implanted in the USA and long-term data collection of efficacy and safety is ongoing. The Manufacturer and User Facility Device Experience (MAUDE) is a publicly available database of device-related adverse events reported to the FDA. At the time of this abstract, there are 714 reports related to HGNS of which 147 involve the respiratory sensory lead and 95 of these relate to pain and/or malfunction most commonly due to sensor tip separation and migration from lead body. This case illustrated a presentation of sensory lead malfunction due to presumed electrical leakage from insulation breach.

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0996 A New Insomnia Phenotype: Coronasomnia Misophonia Syndrome
Authors: Gowda Narayana , Avidan Alon
Published: May 2023

Introduction

Misophonia is a complex neuropsychiatric phenomenon characterized by an intense selective auditory hypersensitivity to auditory stimuli accompanied by emotional intolerance consisting of anger, anxiety, and frustration. We report on four subjects who presented with significant sleep onset insomnia coinciding with the mandated stay-at-home order in March 2020. All patients reported unique and specific irritability and aversion to sounds in their proximal environment - the misophonic trigger (MT). While a previous study reported on the capacity of misophonia to emerge during venerable periods of confinement, we report a series of four patients in whom misophonia was a unique precipitant of insomnia, a “misophonic response” accompanied by hypervigilance and insomnia. Our findings support the consideration of a unique insomnia phenotype - Coronasomnia Misophonia Syndrome (CMS).

Report of case(s)

Subject A is a 29-year-old female with a history of OCD and mild insomnia (MT: humming refrigerator). Subject B is a 31-year-old female with a history of delayed sleep phase disorder in her teenage years (MT: husband’s breathing). Subject C is a 36-year-old male with well-controlled sleep-onset insomnia (MT: electric humming from walls). Subject D is a 46-year-old male with well-controlled depression (MT: carotid pulsation transmitted through his pillow). All but one patient had reasonable improvement with mindfulness therapy combined with systematic desensitization. Subject A improved after pharmacological modification of OCD therapy.

Conclusion

Our case series supports CMS as a unique insomnia phenotype coinciding with social isolation during the COVID-19 pandemic. The MT might have served as a precipitant through classical conditioning. Desensitization with mindfulness therapy was helpful, but the presence of comorbid OCD led to a refractory course supporting pervasive sensory processing in this patient. Our data highlights the need for more dedicated investigation for MT in patients presenting with insomnia during times of confinement and unprecedented anxiety. Additional data is needed to support our observation and investigate the potential psychophysiological mechanism, particularly the proposed alteration in auditory processing in response to the MT in healthy and psychiatric cohorts.

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0997 Severe mixed sleep apnea in a patient with epilepsy and gene mutation EEFIA2
Authors: Gupta Divya , Galion Anjalee
Published: May 2023

Introduction

EEFIA2 gene mutation has been linked with epilepsy and intellectual disability. There have been case series and case reports in the past that have linked the gene mutation with both epilepsy and possible phenotypes of broad nasal bridge and tented upper lip. In previous cases, there has been no description of work up of sleep disordered breathing. Here, we present a case of sleep apnea in a patient with intractable epilepsy and gene mutation.

Report of case(s)

Patient is a toddler-aged female with epilepsy. She was diagnosed with infantile epileptic encephalopathy with a pathogenic mutation in EEF1A2 gene with intractable generalized myoclonic epilepsy, hypotonia, and developmental delay. She has been on several seizure medications in an effort to obtain seizure control. With medications she has been undergoing side effects of swallowing difficulties and increased sedation. During her neurology epilepsy follow up, she was noted to have frequent nighttime awakenings. She was scheduled to have a combined polysomnography and 24-hour electroencephalogram. Polysomnography performed which showed evidence of severe mixed central and obstructive sleep apnea-hypopnea syndrome with AHI of 100/h, CAI 42/H, OAHI - 57/h, and REM AHI of 106/h. Video Electroencephalogram performed at the same time and showed multiple atonic and myoclonic seizures with multifocal discharges. Patient was evaluated by otolaryngology and was not a candidate for surgical interventions. She was titrated on bilevel positive airway pressure during a split titration sleep study.

Conclusion

Genetic mutations and their phenotypes are becoming more widely addressed and researched. In this case we present a rare genetic mutation EEFIA2 which has presented as intellectual disability, hypotonia, and intractable epilepsy in this patient. Given some daytime somnolence and nighttime awakenings, a polysomnography was pursued and showed severe obstructive sleep apnea. In cases where phenotypes are not widely known, it is important to screen for sleep disorders.

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1000 Hypnagogic hallucinations as a manifestation of Parkinson’s disease
Authors: Hart Stephanie , Tobias Lauren
Published: May 2023

Introduction

Narcolepsy and Parkinson’s disease (PD) share many similar symptoms. Narcolepsy is characterized by excessive daytime sleepiness, sleep attacks, sleep paralysis, and hallucinations, with or without cataplexy. Hypnagogic hallucinations occur while falling asleep and the person experiencing them typically knows they are not real. Here, we present a case of hypnagogic hallucinations as a manifestation of PD in a patient without narcolepsy.

Report of case(s)

A 66-year-old female with a history of tremor was seen in the sleep disorders clinic with chief complaints of dream enactment and excessive daytime sleepiness. She described bruising after falling out of bed. On further questioning, she reported instances of seeing “death and a grim reaper as well as a dark figure”, usually upon falling asleep at night. She denied daytime hallucinations. She underwent diagnostic polysomnography (PSG), which showed mild obstructive sleep apnea and loss of rapid eye movement (REM) atonia during brief periods of REM sleep. Treatment for dream enactment was implemented by increasing her dose of melatonin (which she had been taking for insomnia) and initiation of clonazepam, which led to significant improvement in dream enactment. Over the next two years, she was diagnosed with PD and started on carbidopa-levodopa. She reported more frequent hypnagogic hallucinations during a follow-up visit, occurring 1-2 times weekly, which her neurologist attributed to being on higher dosages of dopaminergic therapy. During a recent visit, she reported no dream enactment and infrequent hypnagogic hallucinations.

Conclusion

Sleep disturbances in PD are common and include insomnia, hypersomnia, and REM behavioral disorder (RBD). A lesser appreciated association is that between hypnagogic hallucinations and PD, as depicted in this case. Partial hypocretin cell loss in PD has been postulated to result in disturbed hypocretin signaling, which probably explains the occurrence of narcolepsy-like symptoms (including hypnagogic hallucinations) in PD. Hypnagogic hallucinations are more common among patients with PD compared to the general population and tend to occur more as PD progresses, with longer duration of treatment with dopaminergic agents, with older age, and in patients with RBD. This case serves as an important reminder that hypnagogic hallucinations are not pathognomonic for narcolepsy and are likely underappreciated in PD.

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1001 A Case of Unusual Nocturnal Movements Consistent with Paroxysmal Hypnogenic Dyskinesia
Authors: Helbig Michelle , Youssef Nada , Schuetz Sonja
Published: May 2023

Introduction

Paroxysmal hypnogenic dyskinesia (PHD) is a rare subset of paroxysmal dyskinesias characterized by recurring involuntary dystonic or choreoathetoid movements that occur during sleep or immediately after an arousal from sleep. These episodes often occur without loss of consciousness or trigger and lack association with epileptiform electroencephalography (EEG) activity.

Report of case(s)

A 61-year-old male with obstructive sleep apnea compliant with PAP was referred for abnormal nighttime movements for the past 9 years. The episodes were characterized by stereotyped involuntary dystonic posturing involving his upper extremities or his entire body lasting up to 15 seconds. The onset of the events occurred invariable during nighttime sleep and resulted in awakenings from sleep. He denied dream enactment as well as other symptoms suggestive of sleep-related movement disorders or parasomnias. Sleep deprived EEG demonstrated left temporal slowing during wakefulness and drowsiness and captured a typical event that occurred during NREM stage II sleep and had no ictal correlate. An MRI of the brain was unremarkable. During overnight polysomnogram, his current PAP settings were found to be effective, and three episodes of body stiffening consistent with his typical events were captured. These episodes were found to occur after awakening from REM sleep and lasted less than 10 seconds each. There was no EEG correlate, and REM atonia was preserved throughout. The patient was started on oxcarbazepine for the nocturnal movements, which reduced the frequency of events from 12 to 4 events per night. Oxcarbazepine was tapered and discontinued due to side effects and incomplete control of the events. Genetic testing for epilepsy syndromes is pending.

Conclusion

PHD is a rare syndrome of involuntary movements which begin during sleep or cause awakenings from sleep and can be misdiagnosed as a sleep disorder. It is crucial for the sleep physician to be aware of possible neurological causes of sleep-related movement disorders. Furthermore, our patient’s partial response to oxcarbazepine may further support that PHD may have an epileptic origin although not well characterized.

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Advancing Innovation in Residency Education (AIRE) Pilot Program Training Grant
1002 Bilateral Nonarteritic Anterior Ischemic Optic Neuropathy (NAION) in a Patient with Obstructive Sleep Apnea (OSA)
Authors: Hussein Omar , Gohar Ashraf , Bhat Abid
Published: May 2023

Introduction

Nonarteritic Anterior Ischemic Optic Neuropathy (NAION) is an ischemic insult to the anterior portion of the optic nerve with unclear etiology. Several small sized studies and case reports have demonstrated association between OSA and NAION. In this case, we present a patient with bilateral NAION who was later diagnosed with OSA which may signify this important clinical association.

Report of case(s)

A 57-year-old man with history of hypertension, presented to the ophthalmology clinic for sudden painless decreased visual acuity of the right eye for one-month duration. He had no history of head trauma or other neurological deficits on his initial presentation. He reported having “bad vision” in his left eye for the entire of his life. Funduscopic evaluation revealed bilateral optic disc edema more in the left eye. Laboratory workup including CBC, CMP and HbA1C were within normal limits. Brain MRI showed only mild nonspecific scattered subcortical and deep periventricular hyperintensities suggestive of chronic small vessel ischemic disease and no acute infarct or masses. MRI of the orbits was normal. A diagnosis of bilateral Nonarteritic Anterior Ischemic Optic Neuropathy (NAION) was highly suggested based on the clinical history and examination findings. A referral to a sleep clinic was made to evaluate for possible sleep apnea. A polysomnogram confirmed obstructive sleep apnea with AHI of 7.2/h, REM AHI of 7.7/h and supine AHI 14.9/h. Nocturnal hypoxemia associated with the respiratory events with time of O2 saturation < 88% for 29 minutes. Patient was referred for a titration study to determine the appropriate PAP pressure to treat his sleep disordered breathing.

Conclusion

This case adds to the current evolving evidence of the link between OSA with NAION. It signifies the importance of having an index of suspicion, among both sleep specialists and ophthalmologists, to recognize patients who may have one of the conditions and consider screening for the other, which may lead to earlier diagnosis and improved outcomes.

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1009 Surgery: Problem and Solution. Temporomandibular Joint Reconstruction For Treating Obstructive Sleep Apnea After Cosmetic Surgery
Authors: Lucki Joseph , Gogineni Swetha , Hsieh Caleb
Published: May 2023

Introduction

Orthognathic surgery is often considered for the treatment of obstructive sleep apnea (OSA); however, in some circumstances, specific interventions may precipitate OSA.

Report of case(s)

A 34 year-old female presented with complaints of snoring and fragmented sleep. She had undergone bimaxillary osteotomy and mandibuloplasty for cosmetic reasons outside of the country in 2019. Prior to the surgery, she was asymptomatic and did not snore. Post operatively, she developed snoring, witnessed apneas, fragmented sleep, and daytime sleepiness. A home sleep apnea test revealed severe obstructive sleep apnea with Respiratory Event Index (REI) 66.4/hr. She was initially treated with Positive Airway Pressure (PAP) while seeking oral surgery consultation. PAP via nasal mask was initially effective with residual Apnea Hypopnea Index (AHI) of 3/hr., but the patient developed difficulty tolerating PAP due to aerophagia, nausea, and eructation, despite limiting pressures to 5-7cm H2O. In 2022, the patient successfully underwent temporomandibular joint (TMJ) reconstruction with total joint prosthesis, TMJ fat grafting, bilateral coronoidectomy, maxillary osteotomy with bone plate and grafting, and partial inferior turbinatectomy. She reported resolution of snoring and significant symptomatic improvement after surgical revision. Repeat home sleep apnea testing 1 month after the surgery revealed REI 0.6/hr.

Conclusion

This case illustrates the potential for development of OSA following orthognathic surgery. Patients and providers should be aware of this potential complication when pursuing surgical intervention.

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1011 Heart racing case of dysautonomia in pediatric hypersomnia
Authors: Mekala Hema , Revana Amee , Petitto Lacie , Pattipati Meghana
Published: May 2023

Introduction

Central disorders of hypersomnolence are rare sleep disorders that are commonly misdiagnosed in the pediatric population. Autonomic dysfunction is commonly associated with narcolepsy and may be underrecognized. To our knowledge there is only one case study in the literature, discussing both dysautonomia and pediatric narcolepsy in the setting of hyperhomocystinemia. We present an 18-year-old female undergoing gender transformation with suspected narcolepsy type 2, major depression, suicidal ideation and dysautonomia (dizziness, tachycardia, and near syncopal episodes).

Report of case(s)

At age 16 years, he was evaluated for excessive daytime sleepiness (EDS). Polysomnography (PSG) recorded an apnea hypopnea index (AHI) of 4/hour. Given previous tonsillectomy and adenoidectomy, he was titrated on continuous positive airway pressure (CPAP) which was not well tolerated. Two years later his daytime sleepiness and PAP intolerance continued. A repeat PSG with added mean sleep latency test (MSLT) recorded the following: AHI of 7.9/hr, mean sleep onset latency of 14.8 minutes with one sleep onset REM period (1/5 naps). The study was completed while on psychiatric medications (Abilify, Cymbalta) due to concerns for suicide. Subsequently, he was started on auto-PAP and was referred to sleep psychology for PAP desensitization. Given the concern of psychiatric medications compromising the results of the MSLT, wake promoting pharmaceuticals (stimulants, Modafinil, Strattera) were prescribed due to continued EDS which failed. Additional relevant diagnostics included a positive anti-nuclear antibody (ANA) and normal brain MRI. Reports of tachycardia while awake and palpitations during sleep further warranted a cardiology referral given previously recorded tachycardia during clinic encounters. Cardiology evaluation concluded severe autonomic dysfunction with neurocardiogenic syncope resulting in treatment with Florinef and proponaolol which improved symptoms.

Conclusion

Diagnosis and management of central disorders of hypersomnolence can be challenging and complex especially in those with underlying psychiatric disorders. Careful consideration for screening for autonomic dysfunction in this population should be considered in order to help improve overall quality of life.

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1012 Sleep disordered breathing in children with Congenital Myasthenic Syndrome
Authors: Miller Laura , Patel Neha , Arens Raanan , Delfiner Leslie
Published: May 2023

Introduction

Congenital Myasthenic Syndromes (CMS) include a group of heterogeneous disorders encompassing the neuromuscular junction. These disorders have a wide range of clinical presentations according to the degree and group of muscles involved. While some children can present with modest muscle weakness, others present with significant hypotonia, or even respiratory failure. The natural history of CMS, and in particular, the diagnostic role of polysomnography (PSG) in these children, is not well documented.

Report of case(s)

Retrospective chart review via EMR in a large tertiary center. Patient 1. 19-month-old male with VAMP-1 gene mutation, treated with pyridostigmine, underwent a PSG to evaluate for sleep disordered breathing (SDB). The PSG demonstrated an AHI of 17.7. Repeat PSG post adenoidectomy showed an obstructive apnea hypopnea index (OAHI) 8.6, and central apnea index (CAI) 1.2. He was started on 0.5 LPM oxygen for sleep. Patient 2. 2-year-old female with GFPT1 gene mutation, chronic respiratory failure, tracheostomy/ventilator dependent had a PSG with tracheostomy uncapped on room air which showed an OAHI 1.7, and CAI 0.3. Four years later, split night PSG was started on room air which showed an OAHI 2.8, and CAI 4.6. The ventilator was added at patient’s home settings which improved sleep quality and resolved respiratory events. She was continued on home ventilator settings for sleep despite pharmacological treatment with pyridostigmine. Patient 3. 3-year-old male with CHRNE gene mutation and treated with pyridostigmine. He was evaluated for SDB due to snoring. The PSG demonstrated an OAHI 3.4, and CAI 1.4. Repeat PSG post adenotonsillectomy showed an OAHI 0.4, and CAI 0.4. A third PSG at age 5 was normal.

Conclusion

We present 3 children with various mutations leading to CMS. The heterogeneity in the clinical course, response to therapy, and outcome may be related to genetic mutations, severity of the disorder and muscles involved, time of diagnosis and medical response to treatment. Polysomnography is an important modality for diagnosis of SDB as well as to monitor response to treatment over time. We conclude that patients with CMS should have a PSG completed given this increased risk.

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1013 A familial and benign case of REM behavioral sleep disorder?
Authors: Mirza Mariam , Imayama Ikuyo , Najjar Muhammad
Published: May 2023

Introduction

REM sleep behavior disorder (RBD) is a rare condition characterized by abnormal sleep behavior, such as dream enactment. Loss of atonia during REM sleep is noted in polysomnography (PSG). Failure to suppress spinal motor neurons is considered its pathophysiology. Etiologies include neurodegeneration, orexin deficiency, structural brain lesions, or medication effects. Although studies have shown that most patients with RBD develop neurodegenerative disorders, the variable etiologies suggest that prognosis of RBD can potentially be variable. We report a case of RBD with a significant family history without development of a neurodegenerative disorder.

Report of case(s)

A 64-year-old woman with hypertension, diabetes, body mass index of 29 kg/m2, and tobacco use presented with dream enactment for 10 years. She was referred by her neurologist, who she had seen for intermittent hand tremors but had no focal abnormalities on her neurological exam. She complained of snoring, daytime sleepiness, and unrefreshed sleep. Her medications were aspirin, hydrochlorothiazide-valsartan, metformin, and pantoprazole. She denied any traumatic experience. Family history was relevant for dream enactment in her younger sister and both parents, with an age of onset in their early 50s in all. None of these relatives had any reported neurological issues. Labs revealed abnormal SPEP, an IgG kappa band, which can an early presentation of monoclonal gammopathy of undetermined significance (MGUS). She had PSG with an extended electroencephalogram (EEG) monitor, which showed REM atonia consistent with RBD. She shouted, talked, and moved limbs during REM sleep. No evidence of sleep apnea was seen. She took melatonin 3 mg without any improvement. A trial of clonazepam 0.25 mg reduced the frequency of dream enactment and helped her anxiety. We plan to increase melatonin dosing and observe her response.

Conclusion

Our patient had dream enactment for over 10 years but has not developed any neurological abnormalities to date. She has a family history of dream reenactment with the age of onset in early 50s without any neurological associations. Due to variable etiologies of RBD, this case may be a subtype of RBD with a benign clinical course.

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1016 Jerky Night: Propriospinal myoclonus at sleep onset after Metoclopramide use during pregnancy
Authors: Orakpo Nnamdi , Tu Xinhang , Hekmat Anahid
Published: May 2023

Introduction

Propriospinal myoclonus (PSM) at sleep onset is characterized by jerks of axial muscles, spreading caudally and rostrally, during the transition from wakefulness to sleep1. We present a rare case of a patient who suffered severe sleep-onset insomnia due to PSM after metoclopramide use during pregnancy.

Report of case(s)

A 30-year-old woman with a history of well-controlled herpes simplex virus (HSV) and a resected atypical serous borderline ovarian tumor with microinvasion, presented after a 2-year bout of insomnia due to electrical, jerking sensations in her torso, spreading to the legs just before falling asleep. The symptoms began after an 18-week trial of metoclopramide 20mg, for severe reflux with esophagitis during pregnancy, and persisted after discontinuation of metoclopramide, and postpartum, periodically worsening with menses. On first presentation, the neurological exam was unremarkable; polysomnography was conducted, showing brief myoclonic jerks of the upper extremity, with increased EMG tone and muscle artifact, preventing sleep onset, allowing a total sleep time of merely 1 hour 10 minutes. Event - related recordings on simultaneous electromyogram (EMG)/electroencephalogram (EEG), showed mixed movement disorder and suggested mild CNS hyperexcitability with some volitional muscle jerks, and some myoclonic jerks. An earlier trial of clonazepam 1mg nightly partially improved her symptoms, but caused panic, suicidal ideation, and depression. Month-long, nightly Diphenhydramine 50mg and Trazodone 100mg initially helped with insomnia, while Doxepin 10mg/mL, Daridorexant 25mg, Tizanidine, Gabapentin 900mg, Zolpidem, Cyclobenzaprine, Levetiracetam 500mg, Carbidopa-Levodopa, and sleep restriction all proved ineffective. Eventually, she underwent another trial of clonazepam at 0.25mg with slow titration to 0.75mg while adding melatonin 10mg, without adverse effects noted.

Conclusion

Our case of PSM at sleep onset was in the context of metoclopramide use during pregnancy. Uniquely, adverse effects were associated with a higher and rapid titration of Clonazepam, but later improved with a lower dose and slower titration, coupled with Melatonin. Notably, both dopamine agonists and antagonists, also cannabis, nitric oxide, interferon, ciprofloxacin, bupivacaine, spinal anesthesia, all have reportedly caused medication-induced myoclonus. Further, reports on similar cases may aid in understanding better the pathophysiology of this rare, disabling condition, and lead to more rapid, effective treatment.

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1018 Finally Awake: Treatment of Severe REM-Isolated Obstructive Sleep Apnea
Authors: Padia Hiral , Shamim-Uzzaman Q Afifa
Published: May 2023

Introduction

Obstructive sleep apnea (OSA) is typically treated with positive airway pressure (PAP) therapy in symptomatic patients with ≥ 5 obstructive respiratory events (apneas, hypopneas or respiratory effort related arousals) per hour of sleep. In this case, we present a patient with severe OSA isolated to REM sleep who demonstrated significant symptomatic improvement on PAP therapy, despite an overall apnea-hypopnea index (AHI) of less than 5 events/hour.

Report of case(s)

A 73-year-old obese male with history of SVT, hypertension, and diabetes presented with symptoms of snoring, witnessed apneas, non-restorative sleep, restless sleep, excessive daytime sleepiness, and fatigue. A baseline polysomnogram (PSG) demonstrated severe OSA exclusively in REM sleep (overall AHI 2.9, REM AHI of 37.3, minimum SpO2 of 84%). A subsequent PAP titration study tested CPAP 5-17 and BPAP 19/15 cm of water but was unable to identify an effective pressure during REM sleep. Pressures as low as CPAP 5 cm of water appeared effective in NREM sleep. Ultimately, as the patient was unwilling to undergo a re-titration study, empiric treatment with auto-BPAP (min EPAP 5, max IPAP 25, PS 4) was initiated. With excellent adherence to BPAP therapy, the patient experienced profound symptomatic benefit, with resolution of daytime symptoms, less restlessness during sleep, and more restorative sleep.

Conclusion

This case highlights a gap, and potential pitfall, in current practice. Our patient 1) did not meet the overall AHI criteria for diagnosis of OSA yet had typical symptoms and high pretest probability for OSA; 2) had a PSG which showed severe OSA exclusively during REM sleep; and 3) experienced resolution of symptoms with PAP therapy. Presently, there is no consensus on whether REM-dependent OSA should be treated if the overall AHI is < 5 events/hour. In fact, there is no standardized definition for REM-dependent OSA. This patient with cardiovascular risk factors was able to receive PAP therapy through the Veterans’ Affairs, and access to PAP therapy changed the Veteran’s quality of life dramatically. Obtaining a PAP device for this patient through private payors would have been nearly impossible. More research is needed to understand the clinical implications of this condition.

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1019 New onset OSA after long term Vagus Nerve Stimulator implantation in a patient with Lennox-Gastaut syndrome: A case report
Authors: Patel Harshana , Fatima Maryam , Naik Sreelatha
Published: May 2023

Introduction

Implantable vagus nerve stimulation (VNS) is an established treatment for drug resistant epilepsy. New onset obstructive sleep apnea (OSA) is a rare side effect of VNS. There are few studies describing VNS induced sleep apnea in adults. [1-2] A study of 16 patients with drug-refractory epilepsy found 5 patients with normal AHI develop mild OSA after VNS treatment for 3 months. [2] However, no literature exists regarding OSA after long term VNS implantation. Untreated OSA in patients with epilepsy can impact epilepsy outcomes. We report a case of new onset OSA after long term VNS implantation, refractory to PAP therapy.

Report of case(s)

A 36 year-old man with Lennox-Gastaut syndrome presented with gasping during sleep and daytime hypersomnolence. He underwent VNS implantation at the age of 12. A prior PSG in 2018 showed no sleep apnea. Repeat PSG showed VNS-induced OSA (AHI 10.1/hour). After failed CPAP titration, BPAP-S at 25/16 cm H2O improved OSA. Review of therapy data on follow up showed AHI of 13.7/hour and CAI of 10.9/hour, which is concerning for treatment induced central sleep apnea on BPAP. Diagnostic study with VNS turned off revealed mild OSA (AHI 5.8/hour). A multidisciplinary approach involving ENT for drug-induced sleep endoscopy to optimize VNS stimulation parameters along with neurology and sleep involvement is planned. The optimized VNS setting could be used during planned sleep times using a VNS device with dual-programming capability.

Conclusion

To our knowledge, there is no literature on development of sleep apnea after long term VNS implantation. Although the exact mechanism is unknown, VNS can cause sleep apnea or worsen sleep apnea in patients with a preexisting diagnosis. [1] This case demonstrates need for continuous monitoring and screening for sleep apnea in patients who have been implanted with VNS, even if baseline and follow up PGSs are normal. Current literature suggests discontinuation of VNS to resolve VNS-induced OSA, but we describe a case here where VNS is needed for ongoing management of epilepsy. Further studies are needed to identify treatment options for patients that cannot discontinue VNS therapy who also cannot be successfully treated with PAP if they develop VNS-induced OSA.

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