Humans ; Sleep Apnea, Central/therapy* ; Hypoventilation/congenital* ; Homeodomain Proteins

Two children with late-onset congenital central hypoventilation syndrome were reported, one of whom was male and had no abnormal manifestations after birth, respiratory failure occurs at the age of 1 year and 6 months. After being hospitalized, he was treated with oxygen inhalation and non-invasive ventilation, but carbon dioxide retention could not be corrected. After one month of tracheal intubation, he was failure to wean from ventilator, so tracheostomy was performed. He needs a ventilator to help breath while sleeping, and can breath autonomously during the day without ventilator. The other case was a female, with no abnormalities after birth. At the age of 11 months, she developed respiratory failure. During sleep, the child needs non-invasive assisted ventilation through a nasal mask, and during the day, she breathed autonomously.Two patients were followed up forever 2 years and their growth and development were normal.
Humans ; Child ; Male ; Female ; Infant ; Sleep Apnea, Central/therapy* ; Respiration, Artificial ; Hypoventilation/congenital* ; Oxygen

Treatment-emergent central sleep apnea (TECSA) is a specific form of sleep-disordered breathing, characterized by the emergence or persistence of central apneas during treatment for obstructive sleep apnea. The purpose of this review was to summarize the definition, epidemiology, potential mechanisms, clinical characteristics, and treatment of TECSA. We searched for relevant articles up to January 31, 2020, in the PubMed database. The prevalence of TECSA varied widely in different studies. The potential mechanisms leading to TECSA included ventilatory control instability, low arousal threshold, activation of lung stretch receptors, and prolonged circulation time. TECSA may be a self-limited disorder in some patients and could be resolved spontaneously over time with ongoing treatment of continuous positive airway pressure (CPAP). However, central apneas persist even with the regular CPAP therapy in some patients, and new treatment approaches such as adaptive servo-ventilation may be necessary. We concluded that several questions regarding TECSA remain, despite the findings of many studies, and it is necessary to carry out large surveys with basic scientific design and clinical trials for TECSA to clarify these irregularities. Further, it will be vital to evaluate the baseline demographic and polysomnographic data of TECSA patients more carefully and comprehensively.
Continuous Positive Airway Pressure ; Humans ; Lung ; Respiration ; Sleep Apnea, Central/therapy* ; Sleep Apnea, Obstructive

Corticobasal degeneration (CBD) is a rare neurodegenerative disease characterized by dystonia, cognitive deficits, and an asymmetric akinetic-rigid syndrome. Little information is available regarding anesthetic management for CBD patients. Our patient was a 55-year-old man with CBD complicated by central sleep apnea (CSA). Due to the risk of perioperative breathing instability associated with anesthetic use, a laryngeal mask airway was used during anesthesia with propofol. Spontaneous respiration was stable under general anesthesia. However, respiratory depression occurred following surgery, necessitating insertion of a nasopharyngeal airway. Since no respiratory depression had occurred during maintenance of the airway using the laryngeal mask, we suspected an upper airway obstruction caused by displacement of the tongue due to residual propofol. Residual anesthetics may cause postoperative respiratory depression in patients with CBD. Therefore, continuous postoperative monitoring of SpO₂ and preparations to support postoperative ventilation are necessary.
Airway Obstruction ; Anesthesia ; Anesthesia, General ; Anesthetics ; Cognition Disorders ; Dystonia ; Humans ; Laryngeal Masks ; Middle Aged ; Neurodegenerative Diseases ; Propofol ; Respiration ; Respiratory Insufficiency ; Sleep Apnea Syndromes ; Sleep Apnea, Central ; Tongue ; Ventilation

Central sleep apnea (CSA) is attributed to medical or neurological conditions including stroke. The association of lesion location and CSA in patients with ischemic stroke has not been well elucidated. A 69-year-old man with a history of hypertension and diabetes mellitus was admitted due to stroke. The brain magnetic resonance imaging showed an acute ischemic stroke in the right ventral thalamus and adjacent hypothalamus. During hospitalization, polysomnography (PSG) was performed because repetitive cessation of respiration during sleep was observed by chance. PSG showed severe CSA; the apnea-hypopnea index (AHI) was 73.5 with a minimum oxygen saturation of 89% and central apnea index (CAI) was 63.0. Two years later, follow-up PSG showed that AHI was 7.2 with a minimum oxygen saturation of 91% and CAI was 1.0. We report the patient with CSA after ischemic stroke with right thalamus and adjacent hypothalamus, which resolved spontaneously with time.
Aged ; Brain ; Cerebral Infarction ; Diabetes Mellitus ; Follow-Up Studies ; Hospitalization ; Humans ; Hypertension ; Hypothalamus ; Magnetic Resonance Imaging ; Oxygen ; Polysomnography ; Respiration ; Sleep Apnea, Central ; Stroke ; Thalamus

Catathrenia is a rare sleep disease characterized by monotonous groaning sounds that appear to be related with prolonged expiration, commonly experienced during rapid eye movement (REM) sleep. Catathrenia is also known as nocturnal groaning or sleep-related groaning and is currently categorized as a sleep-related breathing disorder. We present a rare case of a 19-year-old male with nocturnal groaning during non-REM sleep. We suggest that if catathrenia is suspected, polysomnography should be utilized to differentiate it from various sleep disorders such as snoring, central sleep apnea, sleep talking, parasomnia, and sleep-related movement disorders.
Humans ; Male ; Movement Disorders ; Parasomnias ; Polysomnography ; Respiration ; Sleep Apnea, Central ; Sleep Wake Disorders ; Sleep, REM ; Sleep-Wake Transition Disorders ; Snoring ; Young Adult

Combined oxidative phosphorylation deficiency-17 (COXPD-17) is very rare and is caused by homozygous or compound heterozygous mutations in the ELAC2 gene on chromosome 17p12. The ELAC2 gene functions as a mitochondrial tRNA processing gene, and only 4 different pathogenic mutations have been reported in ELAC2-associated mitochondrial dysfunction involving oxidative phosphorylation. Affected patients show various clinical symptoms and prognosis, depending on the genotype. We report a novel mutation in the ELAC2 gene (c.95C>G [p.Pro32Arg], het), in an infant with COXPD-17 who presented with encephalopathy including central apnea and intractable epilepsy, and growth and developmental retardation. During hospitalization, consistently elevated serum lactic acid levels were noted, indicative of mitochondrial dysfunction. The patient suddenly died of shock of unknown cause at 5 months of age. This is the first case report of COXPD-17 in Korea and was diagnosed based on clinical characteristics and genetic analysis.
Brain Diseases ; Drug Resistant Epilepsy ; Genotype ; Growth and Development ; Hospitalization ; Humans ; Hyperlactatemia ; Infant ; Korea ; Lactic Acid ; Oxidative Phosphorylation* ; Prognosis ; RNA, Transfer ; Shock ; Sleep Apnea, Central

Central sleep apnea (CSA) is a highly prevalent comorbidity in patients with heart failure and may present in 25 to 40 percent of heart failure patients. Continuous positive airway pressure (CPAP) is the primary therapeutic option and effective in treatment of obstructive sleep apnea (OSA). In heart failure patients with CSA, several trials of CPAP showed a number of positive effects in heart failure treatment. A 58-year-old male visited the hospital because of dyspnea and he was diagnosed as heart failure with ischemic heart disease. He underwent coronary angiography and received percutaneous coronary intervention due to stenosis at the middle of left anterior descending coronary artery. However, dyspnea was not completely improved after treatment with percutaneous coronary intervention. The patient also experienced snoring and sleep apnea which worsened with symptom of dyspnea in the recent year. We suspected CSA and the patient underwent polysomnography to confirm whether sleep apnea was present. During the polysomnography, CSA with Cheyne-Stokes respiration (CSR) was observed and apnea-hypopnea index was 45.9/hr. The patient was treated with CPAP. After CPAP treatment, hypoxemia and CSA were resolved and dyspnea was improved with reducing NYHA class. We report a case successfully treated with clinical improvement by presuming CSA in a patient with heart failure.
Anoxia ; Cheyne-Stokes Respiration ; Comorbidity ; Constriction, Pathologic ; Continuous Positive Airway Pressure* ; Coronary Angiography ; Coronary Vessels ; Dyspnea ; Heart Failure* ; Heart* ; Humans ; Male ; Middle Aged ; Myocardial Ischemia ; Percutaneous Coronary Intervention ; Polysomnography ; Sleep Apnea Syndromes ; Sleep Apnea, Central* ; Sleep Apnea, Obstructive ; Snoring

OBJECTIVES: One hypothesis of obstructive sleep apnea syndrome (OSAS) is that long-standing snoring vibrations and hypoxia of the nerves cause a local neuropathy in the upper airway during sleep. The aim of this study was to investigate olfactory function in subjects comprising snorers and untreated subjects with OSAS, and to correlate data with polysomnographic parameters. METHODS: Sixty-nine patients were evaluated for snoring from January 2010 to December 2013. The mild group (apneahypopnea index [AHI]<15) consisted of 19 subjects, and the moderate-severe group (AHI≥15) consisted of 50 subjects. Exclusion criteria were conductive olfactory dysfunction, previous tonsil or soft palatal surgery, central sleep apnea, and medications that are known to affect peripheral nerves. Nocturnal polysomnography and olfactory function test such as Korean version of Sniffin’s stick test I, II (KVSS I, II) were performed. RESULTS: There was a significant difference in body mass index, average oxygen saturation (SaO2), lowest SaO2, average snoring duration, and KVSS I, II between the two groups. AHI was related to odor threshold score, and average SaO2 was related to odor discrimination score. But, odor identification score showed no relation with AHI and average SaO2 except for age. Average SaO2 and AHI were closely related to the function of smell. CONCLUSION: Hypoxia and low nasal airflow caused by OSAS may have an effect on the olfactory function. On comparison between the two groups, patients with a high AHI, especially those with OSAS, had an olfactory dysfunction. Also, low average oxygen is the main risk factor in determining the olfactory function. In people with OSAS, the possibility of olfactory dysfunction should be considered and an olfactory function test should be performed.
Anoxia ; Body Mass Index ; Discrimination (Psychology) ; Humans ; Odors ; Olfaction Disorders ; Oxygen ; Palatine Tonsil ; Peripheral Nerves ; Polysomnography ; Risk Factors ; Sleep Apnea Syndromes* ; Sleep Apnea, Central ; Sleep Apnea, Obstructive ; Smell ; Snoring ; Vibration

The use of alcohol is associated with the development and worsening of sleep disorder. Alcohol is generally known to have a sedative effect, but it has an arousal or sedative effect depending on the timing and drinking dose and directly affects REM sleep physiology. Alcohol acts on the central nervous system (CNS) to interfere with the sleep-wake cycle and to affect sleep-related hormone secretion. In addition, the ingestion of alcohol pre-sleep is associated with deterioration and development of sleep related breathing disorders (SBD). The increase in resistance of the upper respiratory tract and the decrease in sensitivity of the CNS respiratory center and the respiratory muscles are major mechanisms of alcohol-induced SBD, and result in snoring or apnea in healthy men or aggravating apnea in patients with OSA. Sleep-related restless leg syndrome and circadian rhythm disorders are common in alcohol use disorder patients. This review provides an assessment of scientific studies that investigated on the impact of alcohol ingestion on nocturnal sleep physiology and sleep disorders.
Alcohols ; Apnea ; Arousal ; Central Nervous System ; Chronobiology Disorders ; Drinking ; Eating ; Humans ; Hypnotics and Sedatives ; Male ; Physiology ; Respiration ; Respiratory Center ; Respiratory Muscles ; Respiratory System ; Restless Legs Syndrome ; Sleep Apnea Syndromes ; Sleep Wake Disorders* ; Sleep, REM ; Snoring