bluuebunny/crossref_metadata_2025_split huggingface dataset:
0997 Severe mixed sleep apnea in a patient with epilepsy and gene mutation EEFIA2
Authors: Gupta Divya , Galion Anjalee 
Published: May 2023

Abstract

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

Abstract

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

Abstract

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

Abstract

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 &lt; 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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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

Abstract

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 &lt; 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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