Central Apneas Due to the CLIFAHDD Syndrome Successfully Treated with Pyridostigmine

NALCN mutations lead to complex neurodevelopmental syndromes, including infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) and congenital contractures of limbs and face, hypotonia, and developmental delay (CLIFAHDD), which are recessively and dominantly inherited, respectively. We present a patient in whom congenital myasthenic syndrome (CMS) was suspected due to the occurrence of hypotonia and apnea episodes requiring resuscitation. For this reason, treatment with pyridostigmine was introduced. After starting the treatment, a significant improvement was observed in reducing the apnea episodes and slight psychomotor progress. In the course of further diagnostics, CMS was excluded, and CLIFAHDD syndrome was confirmed. Thus, we try to explain a possible mechanism of clinical improvement after the introduction of treatment with pyridostigmine in a patient with a mutation in the NALCN gene.

Passive longitudinal weight and cardiopulmonary monitoring in the home bed

Home health monitoring has the potential to improve outpatient management of chronic cardiopulmonary diseases such as heart failure. However, it is often limited by the need for adherence to self-measurement, charging and self-application of wearables, or usage of apps. Here, we describe a non-contact, adherence-independent sensor, that when placed beneath the legs of a patient’s home bed, longitudinally monitors total body weight, detailed respiratory signals, and ballistocardiograms for months, without requiring any active patient participation. Accompanying algorithms separate weight and respiratory signals when the bed is shared by a partner or a pet. Validation studies demonstrate quantitative equivalence to commercial sensors during overnight sleep studies. The feasibility of detecting obstructive and central apneas, cardiopulmonary coupling, and the hemodynamic consequences of non-sustained ventricular tachycardia is also established. Real-world durability is demonstrated by 3 months of in-home monitoring in an example patient with heart failure and ischemic cardiomyopathy as he recovers from coronary artery bypass grafting surgery. BedScales is the first sensor to measure adherence-independent total body weight as well as longitudinal cardiopulmonary physiology. As such, it has the potential to create a multidimensional picture of chronic disease, learn signatures of impending hospitalization, and enable optimization of care in the home.

Hypercapnia-Induced Vasodilation in the Cerebral Circulation is Reduced in Older Adults with Sleep Disordered Breathing

The prevalence of sleep disordered breathing (SDB) is higher in older adults compared to young individuals. The increased propensity for ventilatory control instability in older adults may contribute to the increased prevalence of central apneas. Reductions in the cerebral vascular response to CO2 may exacerbate ventilatory overshoots and undershoots during sleep. Thus, we hypothesized that hypercapnia-induced cerebral vasodilation (HCVD) will be reduced in older vs. young adults. In 11 older and 10 young adults with SDB, blood flow velocity in the middle cerebral artery (MCAV) was measured using Doppler transcranial ultrasonography, during multiple steady state hyperoxic hypercapnic breathing trials while awake, interspersed with room air breathing. Changes in ventilation, MCAV and mean arterial pressure (MAP) via finger plethysmography during the trials were compared with baseline eupneic values. For each hyperoxic hypercapnic trial, the change (Δ) in MCAV for a corresponding change in end-tidal CO2 and the HCVD or the change in cerebral vascular conductance (MCAV divided by MAP) for a corresponding change in end-tidal CO2 were determined. The hypercapnic ventilatory response was similar between the age groups, as was ΔMCAV/ΔPETCO2. However, compared with young, older adults had a significantly smaller HCVD (1.3 ± 0.7 vs. 2.1 ± 0.6 units/mmHg, p=0.004). Multivariable analyses demonstrated that age and nadir oxygen saturation during nocturnal polysomnography were significant predictors of HCVD. Thus, our data indicate that older age and SDB-related hypoxia are associated with diminished HCVD. We hypothesize that this impairment in vascular function may contribute to breathing instability during sleep in these individuals.

825 Central Sleep Apnea and Sinus Bradycardia

Introduction Central sleep apnea (CSA) is characterized by a lack of respiratory drive during sleep resulting in repetitive periods of apneas. There are multiple manifestations of CSA as defined by the ICSD3. CSA with Cheyne-Stokes Breathing (CSB) is characterized by a series of crescendo-decrescendo pattern of ventilation followed by central apnea and is often associated with heart failure. Bradyarrythmias have been associated with obstructive sleep apnea (OSA), but an association with central sleep apnea is less clear. Report of case(s) A 76 y/o male with no significant past medical history but with multiple instances of sinus bradycardia on previous EKGs, was referred to sleep medicine for evaluation of snoring, witnessed apneas, and daytime sleepiness. He had no history of CVA, CHF, atrial fibrillation, renal disease, or opioid use. PSG was completed for suspected OSA, and revealed moderate CSA (AHI 10.9 using hypopnea type 1B criteria, CAI 6.1). Central apneas at the latter portion of the study were consistent with a CSA-CSB. Awake heart rate at time of study was 44 bpm. During sleep, his heart rate ranged from 39–89 with a mean of 57 bpm. Due to this unexpected central apnea finding, cardiac evaluation was recommended and echocardiogram revealed a LVEF of 51%, a dilated left atrium, normal left ventricle chamber size, no wall motion abnormalities, and an inability to assess left sided filling pressures. EKG was consistent with sinus bradycardia without AV blocks. Holter monitor revealed sinus rhythm with moderate burden of ectopy. He underwent CPAP titration which revealed an effective CPAP pressure to control obstructive events, but central apneas persisted without CSB pattern. Conclusion In this patient, CSA/CSA-CSB was found in the absence of known risk factors for CSA. Although potentially an early sign of HFpEF related to his longstanding sinus bradycardia, this case raises the question as to whether sinus bradycardia in isolation could decrease cardiac output enough to destabilize ventilation and promote this finding of CSA/CSA-CSB. Support (if any):

835 Ictal Central Apneic Events Detected on Polysomnogram: An Educational Case Report

Introduction Ictal central apneas (ICA) are frequently observed in focal epilepsy, mostly with temporal lobe seizures, and have been considered as potential biomarkers of sudden unexpected death in epilepsy (SUDEP), particularly when they are prolonged and associated with significant hypoxemia. We present an interesting educational case report of occurrence of such ictal apneic events as recorded during a nocturnal diagnostic polysomnogram (PSG). Report of case(s) A 39-year-old woman with history of left focal epilepsy, hypertension, and headaches was referred to the sleep clinic for loud snoring, witnessed apneic events, and excessive daytime sleepiness. She subsequently underwent a diagnostic (PSG) that demonstrated severe obstructive sleep apnea (apnea-hypopnea index of 63.1) associated with significant hypoxemia (nadir SpO2 of 58%). In addition, the patient had one ictal discharge detected on the PSG’s limited electroencephalogram that occurred in N2 sleep and lasted for almost three minutes with a focal onset and progression in the left hemisphere. The ictal discharge was briefly preceded by central apneic events that continued to occur during and shortly after the termination of the ictal discharge. These ICA events were associated with severe oxygen desaturations down to an SpO2 of 62%. The only time during the PSG recording that the patient had central apneic events was around the ictal event. There were no behavior changes on the video during the seizure, but the ictal discharge was associated with a sustained increase in the mentalis muscles activity and a brief tachycardia. The patient’s neurologist was alerted about the above findings on PSG. The patient was taking a lower dose then prescribed of her anti-epileptic medication (topiramate) that was adjusted, and the patient was counseled on the risks associated with the above findings and positive airway pressure therapy was recommended for her severe sleep apnea. Conclusion The above case report illustrates the importance of polysomnography (specifically the recording of respiratory variables rarely performed in epilepsy monitoring units) in the evaluation of patients with epilepsy given that central apneic events (ICA and post-convulsive central apneas) potentially underlie SUDEP, the most common cause of mortality in refractory epilepsy patients and usually occurring during sleep. Support (if any) None