bluuebunny/crossref_metadata_2025_split huggingface dataset:
0972 The Utility of CSF Orexin Testing in Investigating for Narcolepsy Type-1 in a Patient with Diencephalic Mass
Authors: Cheng Christopher , Avidan Alon 
Published: May 2023

Abstract

Introduction
Narcolepsy type 1 (NT1) is characterized by pathologic hypersomnolence, REM intrusion phenomena, including cataplexy, and orexin deficiency. The diagnosis of NT1 is established based on the presence of bone fide cataplexy and supportive PSG and MSLT testing which requires patients to achieve sufficient sleep duration and regularity and discontinue centrally acting medications that might alter REM sleep. In cases where there is a high index of suspicion for NT1, CSF orexin deficiency is helpful to support the diagnosis of NT1. This is particularly true when PSG-MSLT are not feasible, CNS medication cannot be discontinued, or cataplexy cannot be validated.

Report of case(s)
A 16 year old girl presented for evaluation of excessive daytime sleepiness in the setting of suprasellar germinoma which was resected and treated with chemoradiation at age 11. She subsequently developed panhypopituitarism and severe hypersomnolence in the setting of sleep-wake schedule irregularities, variability of sleep duration, refractory delayed sleep phase disorder, and snoring. She reported episodic weakness in the setting of negative triggers, which was atypical for cataplexy. Her medications included modafinil, amphetamine-dextroamphetamine, and the SSRI fluoxetine. Physical examination depicted normal airways. Epworth Sleepiness Scale score was 18. Screening polysomnography showed a sleep efficiency of 78%, sleep latency of 46.5 minutes, REM latency 2 hours, AHI of 0/hr, and periodic limb movements of 35/hr without arousals. While the REM latency on polysomnography was inconsistent with NT1, the clinical history of a diencephalic mass and chemoradiation was suggestive of secondary NT1. She was unable to proceed with PSG-MSLT due to her psychiatrist's advice against discontinuing her SSRI and her difficulty in maintaining sleep-wake regularity. An evaluation for CSF orexin was performed establishing a normal level of 337 pg/mL (reference level of 200 pg/mL in healthy individuals), ruling out orexin deficiency /narcolepsy type 1. The patient was subsequently improved with wake-promoting antidepressants and light therapy in the AM.

Conclusion
This case illustrates the value of CSF orexin testing in the setting of diencephalic lesions in patients unable to undergo formal narcolepsy testing.

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0977 Bilateral thalamic strokes presenting as acute hypersomnia
Authors: Alattar Maha , Nguyen Tri 
Published: May 2023

Abstract

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

Abstract

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 &lt; 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

Abstract

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

Abstract

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 &gt; 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

Abstract

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

Abstract

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

Abstract

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

Abstract

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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