Central hypothyroidism (CH) occurs approximately in 1:50,000, and therefore is expected to be one thousand times rarer compared with primary hypothyroidism. Despite its rarity in the general population, it is much more common in certain disorders, in which it is frequently associated with other pituitary hormone deficiencies. The aim of this paper is to provide an updated review on the frequency of congenital CH, which is <1:50,000, and on its etiology, disregarding CH caused by other genetic defects, such as mutations of transcription factors involved in pituitary organogenesis or mutations of the genes encoding TRH or TRH receptor.

Sleep-disordered breathing has a prevalence of 12% in the pediatric population. It represents a spectrum of disorders encompassing abnormalities of the upper airway that lead to sleep disruption, including primary snoring, obstructive sleep apnea, central sleep apnea, and sleep-related hypoventilation. Sleep-disordered breathing is the most common indication for adenotonsillectomy, one of the most common procedures performed in children. In recent years, the American Academy of Otolaryngology-Head and Neck Surgery, American Academy of Pediatrics, and the American Society of Anesthesiologists have crafted guidelines to help safely manage children with sleep-disordered breathing. Each organization recommends in-laboratory polysomnography for definitive diagnosis of obstructive sleep apnea in certain cases. However, because this test is both costly and inconvenient, there has been significant interest in alternative methods for diagnosing clinically significant sleep-disordered breathing. Accurate diagnosis is critical because sleep-disordered breathing confers certain perioperative risks and increased mortality in some instances. Recent studies have elucidated the danger of anesthesia and opioids in worsening obstructive sleep apnea, and recommendations for alternative analgesia are being created. In addition, determining the most appropriate level and duration of monitoring in the postoperative period is actively being evaluated. This article presents an overview of the recent literature on the perioperative care of pediatric patients with sleep-disordered breathing. It highlights innovative modalities and limitations in diagnosing obstructive sleep apnea, the importance of a tailored anesthetic/analgesic approach to children with obstructive sleep apnea, and the need for postoperative monitoring. It also brings to focus that further studies on the perioperative care of these children are necessary.

To investigate the clinical characteristics of a patient with motor neuron disease, which caused sleep-disordered breathing (SDB) and alveolar hypoventilation syndrome, and to improve the diagnosis rate for this disease.
 Methods: Retrospectively analyze the diagnosis and treatment process for a 52 year-old male patient, who was accepted by the Second Xiangya Hospital, Central South University because of dyspnea, shortness of breath and malaise for 4 months, and eventually was diagnosed as motor neuron disease associated with obstructive sleep apnea hypopnea syndrome and alveolar hypoventilation syndrome. In addition, we searched CNKI, Wanfang and PubMed databases to review relevant literature with keywords (motor neuron disease or amyotrophic lateral sclerosis or progressive bulbar palsy or progressive muscular atrophy or primary lateral sclerosis) AND (sleep apnea or sleep disordered breathing) from January 1990 to May 2017.
 Results: The major clinical manifestation of motor neuron disease included impaired upper and lower motor neuron displayed with proximal muscle weakness, muscle tremor, amyotrophy, bulbar symptoms and pyramidal sign. It was a chronic, progressive disease with worse prognosis, low survival and difficult in diagnosis. Electroneuromyography was a vital way for diagnosis. Furthermore, sleep disordered breathing was common in patients with motor neuron disease, which was featured as decreased rapid eye movement sleep, increased awaking time, apnea and hypopnea. The main mechanism for sleep disordered breathing in motor neuron disease might be due to the disturbed central nervous system and paralysis of diaphragm and respiratory muscle. Moreover, the patient suffered from restrictive ventilatory dysfunction, alveolar hypoventilation and subsequent partial pressure of carbon dioxide and hypoxemia. Therefore, respiratory failure was the most frequent cause of death for patients with motor neuron disease. Non-invasive positive pressure ventilation was suggested to apply to such patients, whose forced vital capability was less than 75 percent of predicted value.
 Conclusion: Sleep disordered breathing is common in patients with motor neuron disease. Hence, polysomnography is suggested as a routine examination to confirm the potential complications and give timely therapy. Treatment with non-invasive positive pressure ventilation is important for patients to improve life quality, survival rate and prognosis.

The hypothalamus is a higher center of the autonomic nervous system and maintains essential body homeostasis including respiration. The paraventricular nucleus, perifornical area, dorsomedial hypothalamus, and lateral and posterior hypothalamus are the primary nuclei of the hypothalamus critically involved in respiratory control. These hypothalamic nuclei are interconnected with respiratory nuclei located in the midbrain, pons, medulla and spinal cord. We provide an extensive review of the role of the above hypothalamic nuclei in the maintenance of basal ventilation, and modulation of respiration in hypoxic and hypercapnic conditions, during dynamic exercise, in awake and sleep states, and under stress. Dysfunction of the hypothalamus causes abnormal breathing and hypoventilation. However, the cellular and molecular mechanisms how the hypothalamus integrates and modulates autonomic and respiratory functions remain to be elucidated.

Obesity hypoventilation syndrome (OHS) is a major respiratory complication caused by severe obesity, being associated with significant morbidity, negative impacts on quality of life and reduced survival if not treated appropriately. Positive airway pressure therapy is the first-line treatment for OHS although the optimal modality remains unclear. The goal of this study is to identify the efficacy of home bilevel positive airway pressure therapy by comparison to continuous positive airway pressure therapy and determine the best strategy for patients with OHS.

A case of a young male patient, who came to the Second Xiangya Hospital, Central South University because of snoring for 10 years and nocturnal gatism for half month, was analyzed retrospectively. He was diagnosed as obstructive sleep apnea hypopnea syndrome (OSAHS) finally. The patient had been diagnosed and treated as stroke in the local hospital, while urinary and anal incontinence were not relieved. It was a dilemma for him to be properly diagnosed and treated. Polysomnography in our hospital revealed apnea hypopnea index (AHI) at 44.7 events/h, oxygen desaturation index (ODI) at 70.8 events/h and the longest apnea time at 185 seconds while the lowest blood oxygen saturation reduced to 31%. In addition, 413 events of apnea accounted for 61.2% of the sleep time and the minimal heart rate was 23 times/min. The patient was diagnosed as severe OSAHS with hypoxia metabolic brain disease, moderate pulmonary arterial hypertension, secondary polycythemia and obesity hypoventilation syndrome finally. He received the treatment of positive airway pressure non-invasive ventilator with an average pressure at 11.7 cmH2O with reduced AHI and increased blood oxygen saturation. The urinary and anal incontinence disappeared during the first night of treatment and it has been totally resolved so far. We considered that gatism was secondary to OSAHS with severe hypoxia resulted from attenuated regulation of primary defecation in the night. Physicians should pay attention to OSAHS when accepting obese patients with nocturnal incontinence, obvious daytime sleepiness and night snoring. Urinary and anal incontinence could be completely disappeared under therapy of positive airway pressure.