bluuebunny/crossref_metadata_2025_split huggingface dataset:
1214 A Case of Mixed Obstructive and Central Sleep Apnea in Jacobsen Syndrome
Authors: Dlewati Mohammad , Leu Roberta 
Published: April 2024

Abstract

Introduction
Jacobsen syndrome is a rare genetic disorder due to variable deletion lengths on chromosome 11q. The estimated prevalence is only 1/100,000 births in the U.S. Clinical features are multi-system with characteristic facial features, growth and motor retardation, neurocognitive disability, cytopenias, and possible malformations in the CNS, heart, kidneys, and skeleton. Little information is available regarding their sleep and respiratory features.

Report of case(s)
A 3 month old girl with a history of Jacobsen syndrome presented to an outside sleep lab due to oxygen desaturations on overnight pulse oximetry. She was diagnosed prenatally due to intrauterine growth retardation. Whole genome sequencing revealed a 15.6 megabase deletion of 11q23.3q25. On polysomnography, she was found to have severe mixed obstructive and central sleep apnea (obstructive AHI 13.4 events/hour, central AHI 8.6 events/hour). She was treated with up to ½ Lpm of O2 via nasal cannula during sleep. CT imaging of the head and MRI of the brain and spine were obtained. These demonstrated absent olfactory nerves, pituitary interruption syndrome, periventricular white matter hypomyelination, lacunar skull, brachycephaly, mild congenital cervical spinal stenosis, and a “split atlas” with incomplete anterior and posterior arches of the C1 vertebra. There was no Chiari malformation and no radiographic abnormalities of the spinal cord. At 6 months of age she was started and maintained on levothyroxine and hydrocortisone for central hypothyroidism and adrenal insufficiency. Repeat polysomnogram at 15 months of age showed an obstructive AHI of 3.2 events/hour, and a central AHI of 5.6 events/hour. While most central apneas were brief (mean duration of 10.4 seconds), there were prolonged central apneas lasting as long as 20.9 seconds. Due to oxygen desaturations to the 70’s and 80’s following central apneas, oxygen supplementation in sleep was continued.

Conclusion
Multiple features of Jacobsen syndrome (e.g. hypotonia, craniofacial and skeletal abnormalities) increase risk for obstructive and central sleep apnea. We present a girl with Jacobsen syndrome demonstrating both obstructive and central sleep apnea from infancy into toddlerhood. This report highlights the importance of screening for sleep disordered breathing in patients with Jacobsen syndrome, and the need for further research on sleep disturbances in this population.

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1215 Adjunctive Use of Solriamfetol in Pediatric Excessive Daytime Sleepiness: A Single Center Experience
Authors: Varughese Robin , Palladino Christine , Kothare Sanjeev 
Published: April 2024

Abstract

Introduction
Solriamfetol (Sunosi) has been FDA-approved for adults aged 18 years or older particularly for excessive daytime sleepiness (EDS) associated with obstructive sleep apnea or narcolepsy. It works as a selective norepinephrine and dopamine reuptake inhibitor to promote wakefulness in this particular population. The benefit of this medication, compared to other medications to promote wakefulness, is that it is a non-stimulant medication. It has also been noted to have significant long-term efficacy rates for adults with EDS. Given the success of solriamfetol in the adult population, it has been trialed on EDS patients within the pediatric population. The purpose of this study is to better summarize the safety, efficacy, dosing, and side effect profile of pediatric patients using solriamfetol.

Report of case(s)
We performed a retrospective analysis of 11 pediatric patients who have been placed on solriamfetol and studied the improvement of daytime sleepiness with this intervention. Typical up-titration of the medication and monitoring for failure of improvement of sleepiness required a follow up period of at least 3 months. We collected the following data points: gender, weight, age, diagnosis (OSA or narcolepsy), medications, sleep study findings, and subjective endorsement of improvement based on Likert scale with increments of 0-25%, 26-50%, 51-75%, and 76-100% improvement. Our results demonstrated &gt;50% responsiveness in 18% (2/11) of the patients in our cohort with 27% (3/11) of patients having some improvement of their excessive daytime sleepiness by 26-50%. Only 18% (2/11) patients reported adverse effects of headaches or increased anxiety with none of the patients reporting SJS-like rashes or insomnia. All patients tolerated the 150 mg daily dosing. No interactions were noted with patients taking OCPs.

Conclusion
Solriamfetol demonstrates similar tolerability, safety and side effect profile within the pediatric population when compared to the adult population and may provide additional benefit in refractory cases of EDS at maximal doses. More studies are needed to validate these observations.

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1217 A Complex Case of Progressive Hypercarbic Respiratory Failure
Authors: Hitchings Joshua , Dorsch Jennifer 
Published: April 2024

Abstract

Introduction
Progressive hypercarbic respiratory failure in the absence of overt intrinsic lung disease, thoracic cage abnormalities, CNS depressants, or neuromuscular disease poses a unique diagnostic challenge. Furthermore, continued respiratory failure in patients compliant with non-invasive ventilation warrants additional evaluation for alternative diagnoses. We present a case which produced a unique diagnostic challenge to the inpatient sleep medicine service.

Report of case(s)
A 46 year-old female with a past medical history significant for T2DM, COVID pneumonia, and seizures presented for acute on chronic hypercarbic respiratory failure in the setting of left hemi-diaphragm paralysis. She experienced multiple (greater than ten) hospitalizations requiring intubation for hypercarbic respiratory failure. Initial work up revealed negative inspiratory force of -40 cm H20. Pulmonary function tests revealed a restrictive pattern with FEV1/FVC of 70%. CT Chest revealed no parenchymal abnormalities. Admission ABG of 7.30/56. She was started on non-invasive ventilation through average volume assured pressure support mode with goal volumes of eight cc/kg. Despite effective ventilatory support with excellent compliance she had increasing requirements leading to near twenty-four hours of total use. Repeat hospitalization occurred for respiratory failure and new left arm weakness which raised concern for underlying neuromuscular disease as etiology. MuSK antibodies were sent and resulted positive at a titer of 1.35nmol/L, consistent with a diagnosis of Myasthenia gravis. The patient was treated with prednisone, plasma exchange, and rituximab with marked improvement in clinical and respiratory status. The patient was successfully weaned down to nocturnal use of non-invasive ventilation with preserved eucarbia.

Conclusion
Myasthenia gravis can lead to marked respiratory muscle weakness and respiratory failure. Common triggers of crisis include infection, medications, electrolyte abnormalities, and thyroid disease. Up to twenty percent of patients present with myasthenic crisis as their initial symptoms. Continued evaluation of forced vital capacity, and negative inspiratory force are important measures to follow for signs of disease progression. This case proved difficult in the setting of recurrent admissions believed to be secondary to hemidiaphragm paralysis and previous COVID infection. It is imperative to maintain a broad differential in working up respiratory failure and consider myasthenia in the proper clinical context.

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1218 To Order, or Not to Order Pre-Operative Adenotonsillectomy Polysomnography, That Is the Question
Authors: Phanthok Tenzing , Revana Amee 
Published: April 2024

Abstract

Introduction
Adenotonsillectomy (AT) is one of the most-commonly performed surgery with over 500,000 cases in children under 15 years of age annually. Two of the most common indications include sleep disordered breathing (SDB) and recurrent tonsillitis. Prior to surgery, preoperative polysomnography is commonly ordered to identify high risk patients for postoperative complications. We report a case of postoperative complication following an elective adenotonsillectomy in a patient suspected of sleep disordered breathing.

Report of case(s)
elective Adenotonsillectomy. He was evaluated by otolaryngology for a 1-year history of snoring, witnessed apneas, night terrors in the setting of 3+ tonsillar hypertrophy. No recurrent infections or prior sleep study. Intraoperative findings of adenotonsillar hypertrophy which resulted in adenotonsillectomy without any complications. Post-op complication included hypoxemia (oxygen saturations in the mid 80s while asleep). He was admitted for overnight observation and placed on a facemask with 5 L/min oxygen to keep his saturations &gt;90%. Due to persistent desaturations with sleep, patient was transferred to ICU for a trial of PAP therapy with sleep. Postoperative CXR with ultrasound of the diaphragm demonstrated right hemidiaphragm paresis. Echocardiogram was unremarkable. Patient was discharged home with BPAP, steroids, oral antihistamine/steroid nasal spray with plans on outpatient polysomnogram.

Conclusion
Though, adenotonsillar hypertrophy is the most common cause of SDB; tonsillar size does not always correlate with the severity of SDB. A polysomnography is the gold standard to diagnose and assess the severity of SDB. The 2011 American Academic of Otolaryngology-Head and Neck Surgery guidelines recommend pre-AT PSG in children with SDB and high-risk comorbidities, including obesity, Down syndrome, craniofacial abnormalities, neuromuscular disorders, sickle cell disease, or mucopolysaccharidosis. Pre-AT PSG guides medical decision-making, assess surgical candidacy, and optimize peri-operative monitoring in pediatric patients. Currently, there are no standardized guidelines for perioperative screening for SDB in children. Several barriers contribute to obtaining pre-AT PSG which includes access to pediatric sleep labs, long wait times, and high cost for PSG. Nevertheless, pre-AT PSG in pediatric patients to identify high-risk patients needs to be standardized to provide safer and efficacious pediatric care.

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1219 Diagnosing Narcolepsy by MSLT Without Taking in the Full Picture
Authors: Das John , Stahl Stephanie 
Published: April 2024

Abstract

Introduction
Narcolepsy is typically diagnosed by symptoms and an abnormal multiple sleep latency test (MSLT). However, many factors can affect the results of the MSLT, leading to an overdiagnosis of narcolepsy.

Report of case(s)
A 37-year-old female was referred with prior diagnoses of narcolepsy, depression, post-traumatic stress disorder, polysubstance abuse, obstructive sleep apnea (OSA), and hypertension. The patient obtained the diagnosis of narcolepsy by polysomnography/MSLT through another facility and was prescribed amphetamine/dextroamphetamine. The overnight polysomnogram demonstrated: total sleep time 285 minutes, rapid-eye movement (REM) latency 223 minutes, overall apnea-hypopnea index (AHI) 6/h, and REM AHI 45/h. The next day MSLT demonstrated a mean sleep latency of 7 minutes and 2 sleep-onset REM periods on the second and fourth naps. A urine drug screen (UDS) was not obtained. She reported 4-6 hours of sleep/day at the time of her MSLT. She denied cataplexy, sleep paralysis, or sleep-related hallucinations.

Conclusion
This case is one of many seen at our tertiary referral center of patients presenting with a diagnosis of narcolepsy by MSLT, but the MSLT was performed in invalid conditions. Many medications, substances, insufficient sleep, inappropriate timing of testing, untreated OSA, and other medical conditions all have the potential to lead to an abnormal MSLT that would appear consistent with narcolepsy, but often these factors are not considered. Insufficient sleep at home or on the preceding polysomnogram can lead to an abnormal MSLT. Though our patient had a history of polysubstance abuse, a UDS was not obtained. The American Academy of Sleep Medicine enjoins a polysomnogram for a duration of a 7-hour minimum (with 6 hours of sleep) prior to conducting an MSLT. Our patient only slept for 4.75 hours in the overnight polysomnogram. Her polysomnogram also showed OSA. A combination of these factors likely contributed to the patient’s daytime sleepiness. Her insufficient sleep, OSA, and use of sedating medications/substances should have been addressed first before performing an MSLT. We strongly encourage providers to ensure the MSLT is done in valid conditions to prevent the misdiagnosis of narcolepsy and initiation of unnecessary treatment.

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1220 Polysomnography in Children with Joubert Syndrome
Authors: Rani Seema , Cohen Alexandra , Strang Abigail , Chidekel Aaron 
Published: April 2024

Abstract

Introduction
Joubert syndrome is autosomal recessive, clinically and genetically heterogeneous with multiorgan involvement. Classic breathing symptoms include episodes of hyperpnea followed by apnea and periodic breathing. Gas exchange abnormalities include hyperventilation with low CO2s and intermittent desaturations. Purpose of this abstract is to report prolonged survival, describe the PSG findings and treatment modalities in 2 cases.

Report of case(s)
8-year-old female with Joubert syndrome, global developmental delay, hydrocephalus, hypotonia, cortical blindness presented for initial evaluation of sleep apnea. PSG revealed primarily central sleep apnea with upper airway resistance with snoring with arousal and few episodes of obstructive and mixed apnea and hypopnea. Gas exchange demonstrated episodic, brief desaturations, associated with central apneas. Repeat PSG at 13 years showed intermittent hyperpnea followed by apnea, low ETCO2s with self-limiting desaturations and periodic breathing. Gas exchange revealed low ETCO2 and desaturations. She was treated with clinical observation. PSG at age 20 year demonstrated intermittent hyperpnea followed by episodes of prolonged central apneas, with low ETCO2s and desaturations, and few obstructive hypopneas. Most central apneas associated with self-limiting desaturations, with significant number associated with oxygen saturation below 90%. Gas exchange demonstrated low ETCO2s and episodic desaturations. Supplemental oxygen was prescribed. 20-month-old female with diagnosed Joubert syndrome, cleft lip, polydactyly, hypotonia, dysphagia, and developmental delay presented for loud snoring and gasping during sleep and apneas while awake. Sibling with Joubert Syndrome and a tracheostomy had died. Presented for a second opinion for tracheostomy due to PSG at OSH demonstrating OSAHS with AHI of 18.2, OAI of 3.9 and CAI of 14.3, minimal hypoxemia, normal ETCO2 and SaO2 nadir was 75%. Repeat sleep study done at our center; AHI of 27.7 and OAI of 0.83. ETCO2 was normal, SpO2 nadir was 75% and minimal hypoxemia. Overall PSG demonstrated primarily central apneas with a few obstructive apneas and hypopneas and minimal O2 desaturations. Subsequently underwent BLPAP titration study and treated with non-invasive modality.

Conclusion
PSG in Joubert syndrome demonstrated intermittent hyperpnea and prolonged central apneas with low ETCO2's and brief desaturations. All events were predominantly present in REM sleep. Patients did well with low respiratory support and did not require tracheostomy.

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1221 Multiple Sleep Latency Testing in Patients with Comorbid Psychiatric Conditions: A Case Report
Authors: Hope Christopher , Rangel Nancy Arellano 
Published: April 2024

Abstract

Introduction
Excessive daytime sleepiness (EDS) has an estimated prevalence of 10-25%. Disorders of central hypersomnolence such as narcolepsy and idiopathic hypersomnia pose a diagnostic challenge since commonly used psychotropic medications can alter REM sleep parameters on polysomnography (PSG). The American Academy of Sleep Medicine has published protocols for the multiple sleep latency test (MSLT), including a 2-week medication discontinuation period (MDP) prior to testing, however discontinuation must be carefully considered.

Report of case(s)
A 22-year-old female with obsessive compulsive disorder, attention deficit hyperactivity disorder, and optic nerve hypoplasia presented with episodic EDS for several years. Epworth was 14 despite amphetamine-dextromphetamine 30mg twice daily. These episodes would last for 1-2 weeks without associated hypersexuality, increased food seeking behaviors or changes in cognition. Additionally, she would experience periods of not sleeping for days at a time, but not decreased need for sleep. She denied cataplexy, sleep-related hallucinations, or sleep paralysis. No symptoms of bipolar disorder reported. Initial polysomnography showed 432 minutes of sleep, REM latency of 39.5 minutes and AHI of 0.1. MSLT showed a mean sleep latency of 11.5 minutes without sleep onset REM periods. She reported later that she was unable to complete the MDP for escitalopram. The diagnosis at that time was hypersomnolence related to a mental disorder, and referred back to psychiatry. She returned 20 months later with more persistent hypersomnolence and a MDP was attempted again, this time with confirmation. She stopped venlafaxine and stimulant per protocol. PSG was again unremarkable and MSLT showed mean sleep latency of 7 minutes across 5 naps and SOREMP in 4 naps, resulting in the diagnosis of type 2 narcolepsy.

Conclusion
Sleep symptoms are common in patients with comorbid psychiatric conditions, and MDP can pose safety risks or be poorly adhered to. Longitudinal follow-up, repeat testing for persistent and worsening symptoms of EDS, and careful questioning about adherence to MSLT protocol can help clarify the eventual diagnosis.

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1223 REM-related Leg Cramps
Authors: Prier Jillian , Phipps Kristin , Alattar Maha 
Published: April 2024

Abstract

Introduction
Nocturnal leg cramps are common in the general population and is reported in 30% of adults. It is described under sleep related movement disorders in the International Classification of Sleep Disorders. It is a painful sensation in the legs that occurs during sleep or out of sleep but is not necessarily associated with a particular stage of sleep, relieved by stretching. We present a case of nocturnal leg cramps occurring during REM sleep.

Report of case(s)
Patient is a 53-year-old female reporting a history of waking from sleep with leg cramps. She underwent a CPAP titration study at our facility for a previously documented obstructive sleep apnea (AHI of 28, REM AHI of 74.1). On video, she was seen to wake abruptly out of each of the three REM sleep episodes, sitting and rubbing her calves, and reporting to the technician that she was having leg cramps. She would then get up and walk around to relieve the cramps but was able to return to sleep. Each episode lasted 3-5 minutes and was only relieved with movements or massage. No leg cramps were reported from non-REM sleep during this study. She denied symptoms of restless legs syndrome. Her periodic limb movements of sleep indices during her diagnostic and CPAP polysomnograms were 2.0 and 5.1 respectively and occurred during non-REM sleep. Medical history includes asthma and COPD (oxygen supplementation as needed), heart disease, prior polysubstance use disorder, and treated infective endocarditis in 2011.

Conclusion
Our case characterizes nocturnal leg cramps that occurred at a particular sleep stage, in this case strictly during REM sleep. Nocturnal leg cramps have been reported in the literature in association with various medical comorbidities including vascular disease and OSA. Further, it has been reported that CPAP therapy for OSA results in near or total elimination of leg cramp burden. It is unclear what is the mechanism of REM-related leg cramps, but it could be the REM OSA. To our knowledge, this is the first documented case of REM-related nocturnal leg cramps. We hope to add to the present literature on the mechanism of this disorder.

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1225 Vagal Nerve Stimulator-induced Sleep Disordered Breathing
Authors: Faryad Shujaa , Tran Jenny , Prasad Bharati 
Published: April 2024

Abstract

Introduction
Vagus nerve stimulator (VNS) is used for the treatment of refractory epilepsy. It can alter breathing patterns leading to sleep-disordered breathing (SDB). Screening for SDB is recommended before and after initiation of VNS therapy. We present a case of VNS-induced SDB which responded to continuous positive airway pressure (CPAP) therapy.

Report of case(s)
A 40-year-old Caucasian female underwent a home sleep apnea test (HSAT) due to symptoms of snoring, difficulty initiating sleep, teeth grinding, vivid dreams, nightmares, excessive daytime fatigue, and sleepiness. She denied parasomnia, symptoms of narcolepsy, and restless leg syndrome. Her habitual sleep duration was 9 hours with a sleep latency of 1 hour. She had 2-3 nighttime awakenings without nocturia. Pertinent medical history included refractory focal epilepsy, traumatic brain injury, insomnia, and attention deficit disorder. Medications were eslicarbazepine 800 mg daily, topiramate 200 mg twice daily, lamotrigine 100 mg daily, trazodone 300 mg nightly, and Adderall 60 mg daily. She had a VNS implanted 5 years ago. VNS settings were frequency of 20 Hz with on and off time of 30 and 60 seconds respectively. Her body mass index was 21 and Epworth Sleepiness Scale score was 15. HSAT showed significant periodic breathing without Cheyne stokes respiration and a 4% apnea-hypopnea index (AHI) of 9.6/hour. Follow-up diagnostic polysomnogram (PSG) revealed periodic breathing with the respiratory events occurring during VNS on time and abnormal sleep architecture including prolonged sleep and rapid eye movement (REM) latency, increased slow wave sleep, and pseudo spindles. The respiratory events were not associated with significant sleep fragmentation or desaturation. The AHI was 6.4/hour. Respiratory events improved with CPAP 7 cmH20 during titration PSG. She will be followed up in the sleep clinic to evaluate the effectiveness of CPAP therapy.

Conclusion
There is a complex relationship between epilepsy and SDB. Antiepileptics and VNS can cause new onset or worsening SDB. Management options for VNS-induced SDB include PAP therapy, changing VNS settings, or alternate therapies for refractory epilepsy. A multimodal approach requiring input from the patient, a sleep specialist, and an epileptologist is recommended for optimal results.

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