bluuebunny/crossref_metadata_2025_split huggingface dataset:
1007 Excessive REM Without Atonia in Adult Trisomy 21 Patient
Authors: Kuehnel Aubrey , Colvert Jared , Kalathil Josin 
Published: May 2023

Abstract

Introduction
REM sleep without atonia (RSWA) is associated with synucleinopathy neurodegenerative disorders; however, poorly described in other neurodegenerative disorders. We present an adult with trisomy 21, associated with higher risk of Alzheimer’s, with elevated REM percentage and RSWA.

Report of case(s)
37-year-old with Trisomy 21 and reported compliance on CPAP, prescribed ropinirole 0.25mg, clomipramine 50mg qHS and sertraline 100mg, underwent titration study to ensure OSA control in setting of worsened insomnia, restless sleep and nightmares. Reported nightmares starting after hospitalization year prior; patient couldn’t remember dreams, but felt they were “bad”. Denied dream enactment but moved a lot in his sleep and his dog no longer would sleep with him. Study found significantly elevated REM at 49.8%. Of 484 epochs of REM, 38% met RSWA with excessive transient muscle activity in REM based on AASM Manual for Scoring of Sleep and Associated Events(V2.6). OSA remained controlled throughout study near currently prescribed pressures, overall CMS AHI 2.7 (diagnostic in 2009 with CMS AHI 53.7).

Conclusion
Adult Trisomy 21 patient with excessive phasic activity during REM of unknown cause, no reported dream enactment. As patient’s dog no longer willing to co-sleep, could question if related to excessive movement. While patient is on sertraline, known to increase RSWA(1), the amount of excessive REM meeting RSWA criteria makes us question for this to be sole cause. Despite lack of dream recall, felt were “bad” since hospitalization, raising Trauma-associated sleep disorder as possibility. However, lack of autonomic hyperarousal and inability to confirm dreams related to trauma makes less likely(2). Limited studies of adult Trisomy 21 patients noted findings of RSWA(1). Currently there’s established association with RBD, most well studied form of RSWA, and synucleinopathy neurodegenerative disorders. Rarely studies report RBD phenoconverting into Alzheimer’s disease(1). While known association with Alzheimer’s and Trisomy 21, frequency of Trisomy 21 and other neurodegenerative disorders is less established. As this population ages, close monitoring for development of neurodegenerative disorders is needed.

Support (if any)
(1)Baltzan M. Dream enactment behavior: review for the clinician. 2020 (2)Barone D. Dream enactment behavior-a real nightmare: a review of post-traumatic stress disorder, REM sleep behavior disorder and trauma-associated sleep disorder. 2020
1010 Cheyne-Stokes Respiration in a Full term Infant Post ECMO Resuscitation
Authors: Mandal Yutika , Martinez-Fernandez Tanya , Basora Elisa 
Published: May 2023

Abstract

Introduction
Cheyne-Stokes Respiration (CSR) is a form of central sleep apnea (CSA) characterized by periods of hyperventilation and apneas or hypopneas. This is a case of a full-term neonate who presented with acute respiratory failure, requiring ECMO, secondary to late-onset sepsis with Legionella infection. Polysomnography (PSG) obtained post ECMO decannulation showed apneas with CSR. This is a rare finding in neonates and the causes, prevalence, progression, and outcomes of CSA-CSR in pediatric population remains unclear.

Report of case(s)
A 3-week-old full term male infant with no perinatal complications, presented in acute respiratory failure, following an apneic event at home that required resuscitation. He was intubated and placed on VA-ECMO due to hemodynamic instability for a period of 7 days. Extensive sepsis work-up revealed Legionella infection for which he was appropriately treated. Post decannulation he continued to require oxygen support for a prolonged period, with notable desaturations during sleep. PSG showed severe obstructive sleep apnea (oAHI 37/hr) and central sleep apnea (CAI 20/hr) with the unusual finding of CSR, almost throughout the study. Oxygen titration was done and 0.5L of oxygen via nasal cannula showed marked decrease in OSA(oAHI 7/hr) and CSA(CAI 2/hr). Given these PSG findings echocardiography and brain MRI were obtained and were both normal. CT scan of chest showed diffuse pulmonary edema, hence the patient was started on diuretics. After 3 weeks of diuretic therapy, repeat PSG demonstrated complete resolution of CSA-CSR. Patient was discharged home with nighttime oxygen.

Conclusion
CSR has been associated with heart failure and stroke in adults resulting in unstable control of breathing. In Pediatrics, CSA-CSR has been predominantly described only in premature infants. Our patient was a full-term neonate who had a complicated course with rare Legionella and ECMO leading to severe pulmonary disease including pulmonary edema. We postulate that CSR was secondary to the latter due to positive diuretic response.

Support (if any)
1014 The PANDA Monster Under the Bed
Authors: Oh Ann , Avidan Alon 
Published: May 2023

Abstract

Introduction
Pediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcus (PANDAS) is an acute-onset constellation of symptoms including obsessive-compulsive disorder and concurrent neuropsychiatric symptoms including anxiety, emotional lability, and behavioral regression. Sleep disturbances are common in PANDAS, suspected of post-infectious inflammation that can decrease serotonin, increase dopamine, and prevent the production of melatonin. OCD fears and rituals can create may impede sleep onset and impair sleep maintenance. Abnormal motor manifestations during sleep include restlessness, stereotypies, paroxysms or periodic limb movements during sleep. This case report highlights the clinical time course of sleep disorders found in chronic PANDAS, refractory to immunomodulatory interventions.

Report of case(s)
We present the case of an 11-year-old male who presented with behavioral insomnia of childhood sleep-onset association type in the setting of personality changes and deterioration of school performance coinciding with streptococcus infection two months earlier. The patient was supported with prophylaxis antistreptococcal therapy as well as Omega-3 fatty acids. Parents noted heightened anxiety during the day, fear of obsessive and intrusive thoughts about becoming sick, and social seclusion but refusal to sleep alone and be away from home. He was also diagnosed with a tic disorder, chronic migraine, and postural orthostatic tachycardia syndrome (POTS), which likely exacerbated insomnia. The patient was referred for Cognitive behavior therapy utilizing exposure/response prevention ERP modality and psychoeducation. However, it was not until clonidine was introduced that the patient demonstrated a significant clinical response. Clonidine was initiated at 50ug and increased to 100ug QHS. It likely promotes sedation by decreasing norepinephrine release via negative feedback by agonism of the α2-adrenergic receptors at the level of the locus coeruleus.

Conclusion
Sleep disorders in PANDAS syndrome remain elusive and challenging to manage due to the lack of well-developed pharmacologic guidelines to treat insomnia in children. Our case illustrates the importance of the integration of pharmacologic treatments to augment behavioral strategies and promote better patient outcomes. More studies are needed to investigate the pharmacologic management of sleep ­disorders in children in general, but appraise the safety and efficacy of specific medications such, as clonidine, in particular.

Support (if any)
1015 Chasing after Sleep in ROHHAD syndrome
Authors: Oh Ann , Galion Anjalee 
Published: May 2023

Abstract

Introduction
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, autonomic dysregulation, (ROHHAD) syndrome is a childhood disorder consisting of rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation. Sleep disordered breathing, obesity hypoventilation, and daytime hypersomnia are common sleep conditions found in this syndrome. The purpose of this case report is to review the polysomnography findings and propose a multidisciplinary approach in treating a patient with ROHHAD syndrome.

Report of case(s)
This is a case of a 5-year-old female with a clinical presentation consistent with ROHHAD who experienced daytime hypersomnia and worsening obesity hypoventilation due to the progressive nature of her disease. We report the use of several wake-promoting pharmacological agents, in conjunction with positive airway pressure (PAP) therapy to improve quality of life and reduce burden of disease.

Conclusion
Early detection and treatment of sleep disorders in patients with ROHHAD syndrome are essential to improve health outcomes. Given the complex, evolving clinical course of this disease, these patients are best served by coordinated, multi-specialty care.

Support (if any)
1017 Laughing in the Face of Laughter: Narcolepsy with severe cataplexy refractory to medication: A case report
Authors: Orakpo Nnamdi , Taweesedt Pahnwat , Safarpour Yasaman , Miglis Mitchell , Mignot Emmanuel 
Published: May 2023

Abstract

Introduction
Cataplexy, a transient muscle atonia, typically occurs in response to positive emotions such as laughter or mirth. Cataplexy occurs in association with hypocretin deficiency/narcolepsy type 1 (NT1) and involves descending REM sleep-motor inhibition pathways. 1. Here we present a case with late – onset NT1, refractory to medication.

Report of case(s)
A 65-year-old man with a normal BMI presented to the autonomic clinic for presumed syncope, facial and leg weakness, occurring up to 50 times daily, triggered by laughter and a stressful life event from 4 years prior. Tilt testing and brain magnetic resonance imaging, were unremarkable, while sleep–deprived electroencephalogram was concerning for cataplectic versus functional attacks. He underwent diagnostic polysomnography (PSG) that showed severe obstructive sleep apnea (OSA) and was treated with bilevel positive airway pressure (BPAP). A repeat PSG after his OSA was controlled on BPAP, followed by a multiple sleep latency test the next day, showed a mean sleep latency of 2.7, and sleep onset rapid eye movement in 3 of 5 naps; cerebrospinal fluid hypocretin was undetectable and DQB1*06:02 was positive. He denied sleep paralysis and sleepiness, and jovial by nature, he joked as a hobby, leading to cataplexy. Trials of sodium oxybate was ineffective causing vivid dreams and hallucinations. Venlafaxine was subsequently added, initially controlling his cataplexy, but lost efficacy, warranting a trial of duloxetine, also ineffective. He was then started on solriamfetol, which improved sleepiness. We attempted to enroll him in a clinical trial of Reboxetine, thereby discontinuing duloxetine; severe OSA disqualified him from the trial. Subsequently, status cataplecticus ensued, leading to abolished reflexes and multiple falls. Clomipramine 100mg and Modafinil 200mg was started, reportedly reducing the frequency of cataplexy to 12 episodes daily.

Conclusion
Our case is notable because of the challenges working through the differential of drop attacks, and his late onset of severe NT1. One suggestion is an associated functional component to the disease could be involved, and though the diagnosis is solid, an additional functional overlay, or his joking personality, render symptom control unusually difficult. This case illustrates complexities of some cases with late-onset NT1.

Support (if any)
1021 An 8-year-old child with ROHAAD syndrome and its comorbid association with narcolepsy, cardiomyopathy, and malignant catatonia
Authors: Pattipati Meghana , Kaplan Kevin , Mekala Hema 
Published: May 2023

Abstract

Introduction
Rapid-onset obesity with hypothalamic dysregulation, hypoventilation, and autonomic dysregulation (ROHHAD) is a rare disease with an unknown etiology. It manifests with varying clinical signs making the diagnosis challenging. We present a case of ROHHAD syndrome with narcolepsy, heart failure with cardiomyopathy, and malignant catatonia.

Report of case(s)
An 8-year-old boy with speech and developmental delay presents to sleep clinic at 4 years of age, with snoring, witnessed apneas during sleep, daytime somnolence and obesity for evaluation of obstructive sleep apnea. At three years of age, he started to gain weight rapidly; with an increase in BMI from 26 to 30 over a period of few months. His weight gain was initially attributed to a high caloric diet and sedentary lifestyle. A baseline polysomnogram revealed mild obstructive sleep apnea without hypoxemia or hypoventilation (oRDI of 4.2, oxygen nadir 90%, CAI 1). Over time, he was admitted multiple times for hypernatremia, respiratory failure with hypoxemia and hypercapnia, psychosis, and fever of unknown origin. After a thorough evaluation, the diagnosis of ROHHAD was made based upon his history of rapid weight gain, hyperthermia, respiratory failure with hypercapnia, hypopituitarism, and hypothyroidism. During one of his admissions for altered mental status the patient manifested agitation, auditory and visual hallucinations, and excessive daytime sleepiness. Due to these behavioral changes, cerebral spinal fluid was obtained showing a hypocretin of &lt; 50pg/ml. Based on the low hypocretin levels, daytime sleepiness, and hallucinations; a diagnosis of narcolepsy type 1 was made. He subsequently developed heart failure with severely dilated cardiomyopathy and depressed contractility. The patient was deemed not a candidate for heart transplant due to his underlying comorbidities. He unfortunately died at the age of 8 years due to complications from advanced heart failure.

Conclusion
ROHHAD is a rare and fatal disease that can manifest in several ways. ROHHAD with coexistent narcolepsy, malignant catatonia and cardiomyopathy is extremely rare presentation. Providers need to be aware of the varying clinical presentations and have a high index of suspicion in diagnosing this condition. Early diagnosis might improve the morbidity and mortality.

Support (if any)
1023 A Case of Stridor in the Sleep Clinic
Authors: Call Justin , Punj Mantavya , Colaco Clinton , Arunthari Vichaya , Colaco Brendon 
Published: May 2023

Abstract

Introduction
Multisystem atrophy (MSA) is a neurological degenerative progressive disease affecting multiple systems. These patients are frequently seen in the sleep clinic at specialty centers by sleep neurologists for co-management of sleep disordered breathing and nocturnal respiratory issues. Stridor is a life-threatening condition seen in these patients and requires emergent action. We present a case of MSA with worsening stridor that was missed in the era of virtual telemedicine.

Report of case(s)
A 53-year-old female with a history of obstructive sleep apnea (OSA) on BiPAP S and multiple system atrophy with parkinsonian subtype presented virtually to sleep clinic for follow up evaluation of her sleep disordered breathing. Six months prior to her visit she was noted to have bilateral vocal fold hypomobility without stridor. At that time, she had a residual apnea-hypopnea index (AHI) of 1.4 with BiPAP-S 16/13 cm H2O and no nocturnal stridor. She was wheelchair bound. She had routine follow up visits with various providers however these were telemedicine visits with her husband doing most of the talking due to weakness. Over the next 5 months she had worsening fatigue and was using BiPAP S during the day intermittently and was referred to the sleep medicine clinic for consideration of supplemental oxygen at night. A repeat overnight oximetry revealed residual oxygen desaturation index (ODI) of 2.5/hr while on BiPAP S. Repeat pulmonary function testing was ordered and patient was recommended to return for immediate in person follow up. When seen in person, patient was noted to have significant stridor which had been ongoing and worsening over last few months including being appreciated while on PAP therapy. Emergent same-day ENT consultation was arranged by sleep providers. Posterior cordectomy was performed shortly thereafter. The patient was scheduled for an AVAPS titration study.

Conclusion
In cases with progressive neuromuscular disease, stridor may be missed during virtual appointments for a variety of reasons including technical difficulties, or the virtual medium not being sensitive enough to convey stridor. This case highlights the importance of having a high index of suspicion for stridor and impending respiratory failure requiring emergent intervention in patients with neuromuscular disease.

Support (if any)
1031 OSA management with RME device in pediatric patient with GBS on IVIg and non surgical candidate due to immunomodulated status
Authors: Ghildiyal Naomi , Pant Alok , Rosales William , Chernyshev Oleg , Fahmy Omar 
Published: May 2023

Abstract

Introduction
Adenotonsillectomy is considered the standard of care in pediatric populations diagnosed with OSA and adenotonsillar hypertrophy. For non-surgical and specific populations, Rapid maxillary expansion, a technique that consists in increasing the transverse diameter of the hard palate with the use of a fixed orthodontic appliance, has recently been used, with evidence of improvement of signs and symptoms of the disease, AHI normalization, and overall PSG parameters improvement.

Report of case(s)
Patient with a history of Chronic inflammatory demyelinating polyradiculoneuropathy and Guillain Barre syndrome, diagnosed at 8 years of age, posterior to gastrointestinal viral infection. MRI of the lumbosacral spine showed inflammatory changes at the cauda equina, conus and epiconus consistent with GBS. She also has CIDP, first diagnosed by Electromyography. The same year she had witnessed snoring and apneic episodes and underwent a PSG which showed an AHI of 2/hr. On Physical exam, she had tonsils 2+ and was referred to an ENT specialist for tonsillectomy. A repeat PSG at the age of 9 years revealed an AHI of 1.6/hour with no central apnea/hypopnea. At that time, due to clinical worsening of her neurologic symptoms, with ataxia and lower extremity weakness, she was started on a course of IVIg therapy. Due to IVIg treatment, she was not a candidate for tonsillectomy. In view of excessive daytime sleepiness, concentration difficulties at school and not being a candidate for tonsillectomy, she was referred for Rapid Maxillary Expansion. She has had maxillary expanders since the age of 9 and is now asymptomatic and her snoring has remarkably improved. She is now in the process of being fitted with braces and her lower extremity weakness has also improved with IVIg. Complete resolution of sleep apnea symptoms after rapid maxillary expansion without tonsillectomy.

Conclusion
Although tonsillectomy has been the gold standard for the treatment of OSA in the pediatric population, patients who are not surgical candidates for tonsillectomy can undergo orthodontic treatment and benefit from the outcomes. As reported in our unique case, the patient became completely symptom-free.

Support (if any)
1035 Joubert Syndrome and severe central sleep apnea treated with noninvasive ventilation: A case report
Authors: Singh Monica , Sharma Gorav , Lam Nhi , Veeravigrom Montida 
Published: May 2023

Abstract

Introduction
Joubert syndrome is an autosomal recessive heterogenous ciliopathy characterized by cerebellar vermis hypoplasia resulting in ataxia, hypotonia, developmental delay, neonatal respiratory dysregulation, and abnormal eye movements. It is typically accompanied by the pathognomonic “molar tooth sign” on brain MRI. Primary central sleep apnea has been described in case reports about this condition, however given the rarity of this disease, there are very few studies conducted on these patients. Our goal is to share our treatment approaches for the sleep disturbances seen in these patients.

Report of case(s)
A 6-year-old female from Kuwait with a history of Joubert syndrome and global development delay presented at UCMC for evaluation of sleep issues. During the history taking, patient’s mother reported that the patient was born with acute respiratory failure shortly and required CPAP therapy in the NICU. She later developed tachypnea and cyanosis during feedings, which prompted further evaluation. A subsequent brain MRI demonstrated a molar tooth sign consistent with Joubert Syndrome. Patient required supplemental oxygenation due to nocturnal desaturations found on pulse oximetry. Due to persistent apneas and chokings during sleep, the patient underwent a repeat diagnostic polysomnogram with an electroencephalogram at our institution demonstrating severe central sleep apnea most predominant during NREM sleep. An extended montage of the EEG did not show any epileptiform discharge. This was followed by a mask de-sensitization and an inpatient PAP titration study during which BPAP therapy ST mode with a backup rate of 8 breath/minute successfully treated the patient’s primary central sleep apnea. Patient also underwent a multidisciplinary consultation with PM&R, speech therapy and ophthalmology due to her ataxia, speech delay, and need to assess for retinal dystrophy, respectively.

Conclusion
Sleep disordered breathing in the neonatal period is an early presentation in Joubert syndrome with central sleep apnea being the primary sleep disordered breathing. Fortunately, the clinical course of sleep disordered breathing does improve with treatment overtime, as in our case. Treatment options include conservative treatment, oxygen supplementation or PAP therapy. In our case, BPAP with ST mode was the most effective modality despite the need for mask desensitization and initial hesitation with using a PAP device.

Support (if any)
1036 Traumatic Complications of Unrecognized Somnambulance in a Pediatric Patient
Authors: Smith Charles , Kaplan Kevin 
Published: May 2023

Abstract

Introduction
Parasomnias are unusual, disruptive, and abnormal verbal or motor events that occur during sleep or between wake and sleep transitions. They can occur in non-rapid eye movement (NREM) or rapid eye movement (REM) sleep stages. NREM parasomnias are typically more prevalent in pediatric populations. One such NREM parasomnia is sleep walking or somnambulance. One study estimates somnambulance has a prevalence of 17% in ages 3-13 years¹. Somnambulance typically occurs during stage 3 sleep which is clustered in the first half of sleep when REM is less prevalent

Report of case(s)
A 4-year-old previously healthy male presented to clinic for a somnambulance consult. Around 6 months prior, his parents awoke around 3 AM to check on their crying infant, a sibling of our patient, and noticed the patient was missing. They noticed the back door open. Two blocks away they saw police lights and found he had been hit by a vehicle. He was admitted to the hospital for polytrauma, including bilateral pulmonary contusions with acute respiratory failure, grade 4 liver and kidney lacerations, grade 3 adrenal injury, and right parietal lobe parenchymal and subarachnoid hemorrhages. He was later discharged in stable condition with persistent but improved spasticity, impaired mobility, and cognition. His parents had not noticed any prior episodes of somnambulance. However, they did report other frequent parasomnias: somniloquy and confusional arousals. These episodes were worse following late evenings. There was a strong family history of somnambulance in the parent’s siblings. They denied any sleep disordered breathing symptoms. Parents were reassured and educated about parasomnia's self-limited nature but to keep a safe environment and avoid sleep deprivation.

Conclusion
The majority of parasomnia in children have benign outcomes and eventual self-resolution with age. However, rare circumstances arise where these events can be hazardous including sleep-cooking, risking fire and burns or, as in this case, unknowingly walking into traffic. A sleep study is not always needed as parasomnias are a clinical diagnosis. However, it’s important to note that if a patient has a history of parasomnias parents should be educated on the importance of keeping a safe environment to prevent possible harm.

Support (if any)