A 78-year-old man with history of chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) syndrome, moderate persistent asthma, pansinusitis, and upper airway cough syndrome presented to the sleep medicine clinic for evaluation of sleep-disordered breathing. Brain MR imaging showed lesions in the pons and midbrain. Diagnostic polysomnography was remarkable for central sleep apnea.

Valproic acid holds a prominent position as the primary therapeutic option for epilepsy cases. The utilization of antiepileptic agents like valproic acid has been linked to disturbances in sleep architecture. Although scant, there exists a subset of studies that allude to the potential manifestation of sleep apnea as an adverse effect of valproic acid administration. In this context, we present a case report of a 76-year-old man with a past medical history of arterial hypertension, atrial fibrillation, and obstructive sleep apnea syndrome treated with continuous positive airway pressure since 2020. Following the commencement of valproic acid treatment for vascular epilepsy, obstructive sleep apnea evolved toward to central sleep apnea. This case exemplifies the need for a heightened awareness of the multifaceted implications of valproic acid therapy on sleep patterns.

暂无摘要。

Obstructive sleep apnea (OSA) is common in sickle cell disease (SCD) despite the absence of overweight, suggesting a specific pathophysiology. We previously showed that otherwise healthy children with increased pharyngeal compliance, a main endotype of OSA, exhibited decreased sympathetic modulation. Our objective was to assess whether modifications of heart rate variability (HRV) and compliance are associated in SCD. Cases (children with SCD, African or Caribbean ethnicity) and controls (otherwise healthy children, same ethnicity), aged 4-18 years, were selected from our database of children referred for OSA and matched for sex, age, and obstructive apnea-hypopnoea index (OAHI) score. The children underwent polysomnography and acoustic pharyngometry (to compute compliance). HRV analyses were performed from 5 min ECG recordings in wakeful, NREM, and REM sleep states and from the whole night. Twenty-one pairs were analysed (median age 10.5 years, 24 girls). Children with SCD had lower BMI z-scores and more tonsil hypertrophy than control children. Children with SCD and OSA (OAHI ≥2/hour) were characterised by lower compliance than children with SCD without OSA. An inverse relationship between compliance and SD2 (HRV from whole night, inversely related to sympathetic modulation) was evidenced (negative relationship in SCD: R = -0.63, p = 0.002 vs. positive relationship in controls R = 0.59, p = 0.006). In conclusion, while the decrease in sympathetic modulation in control children may contribute to increasing pharyngeal compliance, its decrease seems protective in children with sickle cell disease, which underlines the specificity of OSAS pathophysiology in SCD that could be due to sickle cell disease related smooth muscle dystonia.

Hypoglossal nerve stimulation is indicated for obstructive sleep apnea but is ineffective in treating central sleep apnea. We describe 2 patients implanted with hypoglossal nerve stimulation after being diagnosed with obstructive sleep apnea at outside sleep laboratories and failing a trial of continuous positive airway pressure therapy. Despite successful hypoglossal nerve stimulation implantation, the patients continued to have persistent symptoms with residual apnea-hypopnea indices above 25 events/h. Although obstructive sleep apnea was the presenting diagnosis, we discovered a significant central sleep apnea component in the original diagnostic sleep data upon careful review. One patient was confirmed to have a central sleep apnea-predominant sleep disorder and improved with adaptive servo-ventilation therapy. The other was diagnosed with central sleep apnea and severe periodic limb movement disorder, and improved with medication. Based on these sleep apnea cases, we propose guidelines emphasizing the importance of reviewing basic clinical information upon treatment failure and initiating multidisciplinary collaboration early in the treatment course.
BACKGROUND: Banerjee D, Lee C-H, Im K. Case report of hypoglossal nerve stimulation therapy failure due to significant underlying central sleep apnea. J Clin Sleep Med. 2024;20(6):1003-1007.

Sleep-disordered breathing has been reported in Charcot-Marie-Tooth disease (CMT) type 1A in association with diaphragmatic weakness and sleep apnea syndrome, mainly of the obstructive type (OSA). Improvement has been observed not only in sleep quality but also in neuropathy symptoms in CMT1A patients with OSA following the initiation of continuous positive airway pressure. We report the cases of two siblings affected by CMT1A associated with hemidiaphragm relaxatio necessitating nocturnal non-invasive ventilation (NIV). Two twins, now 42 years old, with a family history of CMT1A, received a genetic diagnosis of CMT1A at the age of 16. Over the years, they developed a slowly worsening gait disorder and a decline in fine motor hand movements, currently presenting with moderate disability (CMTES:13). At the age of 40, they both started complaining of daytime sleepiness, orthopnea, and exertional dyspnea. They received a diagnosis of relaxatio of the right hemidiaphragm associated with impairment of nocturnal ventilation and they both have benefited from nocturnal NIV. Disorders of breathing during sleep may be underestimated in CMT1A since routine investigations of sleep quality are rarely performed. Our two clinical cases and a literature review suggest the importance of inquiring about symptoms of excessive daytime sleepiness and respiratory disturbances in individuals with CMT1A, even in the absence of severe neuropathy. In the presence of compatible symptoms, a pneumological assessment, along with an overnight polysomnogram and lung function tests, should be performed. Recognizing sleep-related symptoms is essential for providing accurate treatment and improving the quality of life for patients with CMT1A.

UNASSIGNED: Polycythemia vera (PV) is one of the myeloproliferative neoplasms (MPN) diagnosed by World Health Organization (WHO) criteria 2016, which requires the presence of 3 major criteria: high hemoglobin/hematocrit, bone marrow findings, and Janus Kinase 2 (JAK2) mutation or two major and one minor criteria, including erythropoietin (EPO) level. However, in clinical practice, difficulties in diagnosis can arise as it may be masked by secondary causes for erythrocytosis such as smoking or obstructive sleep apnea (OSA).
UNASSIGNED: Here, we report a 55-year-old gentleman, morbidly obese with OSA on home continuous positive airway pressure (CPAP) machine, who was incidentally found to have polycythemia. Further evaluation confirmed the diagnosis of PV.
UNASSIGNED: PV can be masked by the assumption of secondary polycythemia based on history. This underscores the importance of screening such cohort through JAK2 and EPO testing to avoid missing PV.

OBJECTIVE: To estimate the statistical and epidemiological association between Sleep bruxism (SB) and Obstructive sleep apnea (OSA) based on OSA severity, and to describe sleep data findings within the analyzed population.
METHODS: A case-control study (N = 37) was conducted on subjects with and without OSA. All subjects underwent a full-night polysomnographic recording at the Sleep Unit (Clinical Neurophysiology Department) of San Carlos University Hospital. The diagnosis and severity of OSA were determined using ICSD-3 and AASM-2.6 scoring. The definitive SB diagnosis was obtained through a self-report test, physical examination, and PSG recordings. Variables used to study the association between both conditions included the apnea and hypopnea episodes, the Apnea-hypopnea index (AHI), the number of SB episodes per night, and the bruxism index. Chi2, correlations, and ANOVA were calculated. The epidemiological association was calculated using the OR.
RESULTS: SB showed an epidemiological association with OSA, with an OR of 0.15 (0.036-0.68), suggesting it could be considered a protective factor (p < 0.05). OSA patients presented fewer average SB episodes (6.8 ± 12.31) than non-OSA patients (25.08 ± 31.68). SB episodes correlated negatively (p < 0.05) with the AHI and the number of hypopneas (p < 0.05). The average number of SB episodes was significantly higher in patients with mild OSA compared to those with severe OSA.
CONCLUSIONS: In this sample of patients with subclinical and mild OSA, SB may act as a protective factor. However, confirmation of these results with a larger sample size is necessary.

OBJECTIVE: Sleep disordered breathing (SDB) is a well-documented complication of vagus nerve stimulation (VNS) in the literature. Yet, a formal consensus on its management has not been established, particularly in the pediatric population. This study aims to evaluate the current literature on VNS-associated SDB in order to further characterize its presentation, pathogenesis, diagnosis, and treatment.
METHODS: A literature review from 2001 to November 8, 2021 was conducted to search for studies on SDB during vagal nerve stimulation in pediatric populations.
RESULTS: Of 277 studies screened, seven studies reported on pediatric patients with VNS-associated SDB. Several investigators found on polysomnogram that periods of apnea/hypopnea correlated with VNS activity. When VNS settings were lowered or turned off, symptoms would either improve or completely resolve.
CONCLUSIONS: VNS-associated SDB is a well described complication of VNS implantation, occurring due to an obstructive process from vagal stimulation and laryngeal contraction. Diagnosis can be made via polysomnogram. Recommended treatment is through adjustment of VNS settings. However, those who are unable to tolerate this, or who have had pre-existing obstructive issues prior to VNS, should pursue other treatment options such as non-invasive positive pressure or surgery directed by DISE findings.

UNASSIGNED: Klinefelter syndrome (KS), which is related to the presence of an additional X chromosome in a man, is associated with a broad variety of physical and psychosocial impairments. While the focus is usually placed on symptoms related to hypogonadism, such as infertility, recent studies have noted evidence of poor sleep in those patients.
UNASSIGNED: We report on the case of a 44-year-old man with KS who consulted in our Sleep medicine center for excessive daytime sleepiness and delayed sleep with irregular patterns. Polysomnography (PSG) revealed sleep apnea syndrome, with both obstructive and central apnea. Peripheral temperature monitoring revealed patterns indicative of altered melatonin secretion. The present case report suggests that sleep disturbance in patients with KS appears multifactorial with the occurrence of: obstructive sleep apnea (OSA), iatrogenic central apnea due to testosterone therapy, and circadian sleep/wake disorder.
UNASSIGNED: While this topic warrants larger studies with control groups, this case report suggests there might be specific sleep impairments, associated with three different mechanisms, in patients with KS. Those sleep disorders can worsen psycho-social and cognitive difficulties in those patients, and should therefore be screened for and treated.