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.
摘要: 报道2例确诊为迟发型先天性中枢性低通气综合征患儿，其中1例为男性，出生后无异常，1岁6个月时出现呼吸衰竭表现，住院后予吸氧和无创辅助通气治疗，CO2潴留不能纠正，气管插管呼吸机通气1个月，未能成功拔管，逐行气管切开术，患儿睡眠时需要呼吸机辅助呼吸，清醒时经气管套管自主呼吸。另1例为女性，出生后无异常，11个月时出现呼吸衰竭表现，患儿睡眠时需要经鼻面罩无创辅助通气，白天自主呼吸，活动正常。2例患儿随访2年后生长发育正常。.

Anti-IgLON5 disease is a recently described entity that has been associated with neurological symptoms and sleep disturbances including sleep breathing disorders. Sleep stridor as well as obstructive and less often central sleep apnea have been reported but rarely needing ventilation on tracheotomy. We report the case of a patient in whom obstructive sleep apnea with secondary development of dysphagia and recurrent aspiration pneumonia led to the diagnosis of anti-IgLON 5 disease. Acute respiratory failure due to laryngospasm required intubation and eventually tracheotomy. Yet hypoventilation persisted, and polysomnography demonstrated central sleep apnea alternating with sleep-related tachypnea. Nocturnal ventilation was thus reintroduced. The association of obstructive sleep apnea with dysphagia is a potential red flag for anti-IgLON5 disease, which remains an overlooked diagnosis. Breathing disorders can be complex in this context, with a mixed obstructive and central pattern whose central component can be unveiled after tracheotomy. This highlights the importance of closely monitoring sleep and respiration even after tracheotomy.
Tankéré P, Le Cam P, Folliet L, et al. Unveiled central hypoventilation after tracheotomy in anti-IgLON5 disease: a case report. J Clin Sleep Med. 2023;19(9):1701-1704.

Context: ROHHAD syndrome presents a significant resemblance to HIDEA syndrome. The latter is caused by biallelic loss-of-function variants in the P4HTM gene and encompasses hypotonia, intellectual disabilities, eye abnormalities, hypoventilation, and dysautonomia. We report the first patient identified with HIDEA syndrome from our ROHHAD cohort. Clinical case: Our patient was a 21-month-old girl who had a history of severe respiratory infections requiring intensive care, hypotonia, abnormal eye movements, and rapid weight gain. Polysomnography identified severe central hypoventilation. During her follow-up, a significant psychomotor delay and the absence of language were gradually observed. The prolactin levels were initially increased. Hypothermia was reported at 4 years. Exome sequencing identified a new homozygous truncating P4HTM variant. Discussion: Our patient met the diagnosis criteria for ROHHAD, which included rapid weight gain, central hypoventilation appearing after 1.5 years of age, hyperprolactinemia suggesting hypothalamic dysfunction, and autonomic dysfunction manifesting as strabismus and hypothermia. However, she also presented with severe neurodevelopmental delay, which is not a classic feature of ROHHAD syndrome. HIDEA syndrome presents similarities with ROHHAD, including hypoventilation, obesity, and dysautonomia. To date, only 14% of endocrinological disturbances have been reported in HIDEA patients. Better delineation of both syndromes is required to investigate the eventual involvement of P4HTM, a regulator of calcium dynamics and gliotransmission, in ROHHAD patients. Conclusion: In the case of clinical evidence of ROHHAD in a child with abnormal neurological development or eye abnormalities, we suggest that the P4HTM gene be systematically interrogated in addition to the analysis of the PHOX2B gene. A better delineation of the natural history of HIDEA is required to allow further comparisons between features of HIDEA and ROHHAD. The clinical similarities could potentially orient some molecular hypotheses in the field of ROHHAD research.

Patients with congenital central hypoventilation syndrome (CCHS) require long-term ventilation to ensure gas exchange and to prevent deleterious consequences for neurocognitive development. Two ventilation modes may be used for these patients depending on their tolerance, one invasive by tracheostomy and the other noninvasive (NIV). For patients who have undergone a tracheostomy, transition to NIV is possible when they meet predefined criteria. Identifying the conditions favorable for weaning from a tracheostomy is critical for the success of the process.
The aim of the study was to share our experience of decannulation in a reference center; we hereby describe the modality of ventilation and its effect on nocturnal gas exchange before and after tracheostomy removal.
Retrospective observational study at Robert Debré Hospital over the past 10 years. The modalities of decannulation and transcutaneous carbon dioxide recordings or polysomnographies before and after decannulation were collected.
Sixteen patients underwent decannulation following a specific procedure for transition from invasive to NIV. All decannulations were successful. The median age at decannulation was 12.6 [9.4; 14.1] years. Nocturnal gas exchange was not significantly different before and after decannulation, while expiratory positive airway pressure and inspiratory time increased significantly. An oronasal interface was chosen in two out of three patients. The median duration of hospital stay for decannulation was 4.0 [3.8; 6.0] days.
Our study underlines that decannulation and transition to NIV are achievable in CCHS children using a well-defined procedure. Patient preparation is crucial to the success of the process.

暂无摘要。

Neurophysiological monitoring assesses the functional integrity of the brainstem by using monitoring and mapping techniques. We report an operated case of a pontomedullary lesion in a patient who developed central hypoventilation postoperatively. The intraoperative use of neurophysiological and cardiovascular monitoring was unable to predict/prevent this hypoventilation. We describe the inherent limitations of monitoring the respiratory system, including spontaneous respiration. Moreover, we suggest the novel application of diaphragmatic motor evoked potential for real-time monitoring of respiratory pathways during brainstem surgeries.

UNASSIGNED: To characterize the first patient of Perry syndrome reported from India.
UNASSIGNED: A 62-year-old gentleman presented with acute encephalopathy, hypercapnia, central hypoventilation, and seizures. He required ventilatory support for persistent respiratory failure even after the resolution of the encephalopathy. History revealed symptoms of orthostatic hypotension, episodes of shallow breathing, unsteadiness of gait, anxiety and depression, and significant weight loss for the previous two years. His mother and elder brother had succumbed to a similar illness. Investigations for neuromuscular diseases, including myasthenia and Pompes disease, were negative. Genetic tests for muscular dystrophies and myopathies, investigations for infectious, autoimmune, and para-neoplastic diseases were negative. Neuroimaging and electrophysiological studies were unremarkable. During his hospital stay, he developed rigidity and bradykinesia.
UNASSIGNED: In view of the prominent respiratory failure, Parkinsonism, unexplained weight loss, and family history, he was tested for Perry syndrome. A heterozygous missense variation in Exon 2 of the DCTN1 gene that results in the substitution of Proline for Alanine at codon 45 (pA45P) was detected. This variant was not detected in his clinically unaffected brother. The clinical presentation and genetic test indicate Perry syndrome, a rare autosomal dominant fatal disease, which has never been reported from India. The patient improved with Levodopa and neurorehabilitation but eventually succumbed to his illness three years later.
UNASSIGNED: Perry syndrome, though rare, should be considered in the differential diagnosis of patients with a family history of Parkinsonism and central hypoventilation.

UNASSIGNED: ROHHAD syndrome (Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation) is rare. Rapid-onset morbid obesity is usually the first recognizable sign of this syndrome, however a subset of patients develop ROHHAD syndrome without obesity. The prevalence of this entity is currently unknown. Alteration of respiratory control as well as dysautonomic disorders often have a fatal outcome, thus early recognition of this syndrome is essential.
UNASSIGNED: A retrospective, observational, multicenter study including all cases of ROHHAD without rapid-onset obesity diagnosed in France from 2000 to 2020.
UNASSIGNED: Four patients were identified. Median age at diagnosis was 8 years 10 months. Median body mass index was 17.4 kg/m2. Signs of autonomic dysfunction presented first, followed by hypothalamic disorders. All four patients had sleep apnea syndrome. Hypoventilation led to the diagnosis. Three of the four children received ventilatory support, all four received hormone replacement therapy, and two received psychotropic treatment. One child in our cohort died at 2 years 10 months old. For the three surviving patients, median duration of follow-up was 7.4 years.
UNASSIGNED: ROHHAD syndrome without rapid-onset obesity is a particular entity, appearing later than ROHHAD with obesity. This entity should be considered in the presence of dysautonomia disorders without brain damage. Likewise, the occurrence of a hypothalamic syndrome with no identified etiology requires a sleep study to search for apnea and hypoventilation. The identification of ROHHAD syndrome without rapid-onset obesity is a clinical challenge, with major implications for patient prognosis.

Central hypoventilation is a rare cause of respiratory failure that has been associated with multiple underlying disorders, including congenital central hypoventilation syndrome, obesity hypoventilation syndrome, and several neuromuscular conditions. We report the case of an adolescent who presented with respiratory failure in the setting of acute demyelinating encephalomyelitis whose clinical history was consistent with a congenital myopathy and whom we found to have a Tropomyosin 3 (TPM3) genetic variant on further genetic testing. This case expands the clinical spectrum of causes for late-onset central hypoventilation in the setting of a neuromuscular disorder.
Stringel V, Bizargity P, Laureta E, Kothare S. A late presentation of TPM3 myopathy presenting as sleep hypoventilation in the setting of acute demyelinating encephalomyelitis. J Clin Sleep Med. 2022;18(11):2695-2698.

A nine-year-old girl diagnosed with ROHHAD-NET (rapid-onset obesity, hypothalamic dysfunction, hypoventilation, autonomic dysfunction and neuroendocrine tumour) syndrome was scheduled for excision of a large paravertebral ganglioneuroma under general anaesthesia. Her comorbidities included hypothyroidism, diabetes insipidus and autonomic dysfunction. Intra- and postoperative complications included intra-operative hypotension, long surgical time and prolonged postoperative ventilation. Complete weaning from ventilation was initially unsuccessful and she was ultimately discharged on domiciliary nasal BiPAP therapy. The peri-operative care of children with this syndrome is challenging due to the involvement of multiple organ systems. In this report, we describe how pre-operative optimisation, well-planned intra-operative management and intensive postoperative care are essential for a favourable outcome.