Central Alveolar Hypoventilation Research Articles

Pediatric long-term noninvasive respiratory support in children with central nervous system disorders.

The use of long-term noninvasive respiratory support is increasing in children along with an extension of indications, in particular in children with central nervous system (CNS) disorders. The aim of this study was to describe the characteristics of children with CNS disorders treated with long-term noninvasive respiratory support in France. Data were collected from 27 French pediatric university centers through an anonymous questionnaire filled for every child treated with noninvasive ventilatory support ≥3 months on 1st June 2019. The data of 182 patients (55% boys, median age: 10.2 [5.4;14.8] years old [range: 0.3-25]) were collected: 35 (19%) patients had nontumoral spinal cord injury, 22 (12%) CNS tumors, 63 (35%) multiple disabilities, 26 (14%) central alveolar hypoventilation and 36 (20%) other CNS disorders. Seventy five percent of the patients were treated with noninvasive ventilation (NIV) and 25% with continuous positive airway pressure (CPAP). The main investigations performed before CPAP/NIV initiation were nocturnal gas exchange recordings, alone or coupled with poly(somno)graphy (in 29% and 34% of the patients, respectively). CPAP/NIV was started in an acute setting in 10% of the patients. Median adherence was 8 [6;10] hours/night, with 12% of patients using treatment <4 h/day. Nasal mask was the most common interface (70%). Airway clearance techniques were used by 31% of patients. CPAP/NIV may be a therapeutic option in children with CNS disorders. Future studies should assess treatment efficacy and patient reported outcome measures.

ROHHAD syndrome spectrum in an adult: a possible new variant.

This case report describes for the first time the evolution of a mature patient with all the diagnostic criteria for ROHHAD syndrome. It shows a rare case of central alveolar hypoventilation with hypothalamic impairment, dysautonomia and rapid weight gain. https://bit.ly/49AN3Vv.

Paced breathing and respiratory movement responses evoked by bidirectional constant current stimulation in anesthetized rabbits.

Objective: Diaphragm pacing (DP) is a long-term and effective respiratory assist therapy for patients with central alveolar hypoventilation and high cervical spinal cord injury. The existing DP system has some limitations, especially high price, inconvenience preoperative evaluation methods and diaphragm fatigue easily. Our objective was to develop a DP system and evaluated reliability through hardware testing and animal experiments. Methods: A DP system with bidirectional constant current was designed, manufactured and tested. Effects of a wide range of stimulus amplitudes (range: .5-2.5mA) and frequencies (range: 10-250Hz) on airflow and corresponding inspired volume were investigated during DP. Differences in airflow characteristics under various stimulation parameters were evaluated using power function. ECG interference in diaphragm electromyography (EMGdi) was filtered out using stationary wavelet transform to obtain pure EMGdi (EMGdip). 80-min period with a tendency for diaphragm fatigue by root mean square (RMS) and centroid frequency (f c ) of EMGdip was studied. Results: The increase of stimulus frequency and amplitude in animals resulted in different degrees of increase in envoked volume. Significant difference in Airflow Index (b) between anesthesia and DP provided a simple, non-invasive and feasible solution for phrenic nerve conduction function test. Increased stimulation duration with the developed DP system caused less diaphragm fatigue. Conclusion: A modular, inexpensive and reliable DP was successfully developed. Its effectiveness was confirmed in animal experiments. Significance: This study is useful for design of future implantable diaphragmatic pacemakers for improving diaphragm fatigue and convenient assessment of respiratory activity in experiments.

P10‐17: Idiopathic central alveolar hypoventilation without respiratory failure that required differentiation from obstructive sleep apnea

P10‐17: Idiopathic central alveolar hypoventilation without respiratory failure that required differentiation from obstructive sleep apnea

Case presentation on ROHHAD syndrome

Rapid-onset obesity with hypothalamic dysregulation, hypoventilation and autonomic dysregulation (ROHHAD) is a rare, potentially life-threatening disorder of respiratory control and autonomic nervous system with endocrine system abnormalities. Aetiology is unknown, but some hypotheses suggest a genetic predisposition or an autoimmune reaction for the occurrence of the disorder. Patients with ROHHAD have impairment of respiratory centre in the brain stem which may cause respiratory depression. Children may experience the following symptoms such as rapid-onset obesity, hyperphagia and endocrine abnormalities. Along with these symptoms, children may experience central alveolar hypoventilation, intestinal abnormalities, body temperature irregularities, difficulty with mobility and eye abnormalities. Children should undergo many investigations to rule out the ROHHAD syndrome such as X-ray, magnetic resonance imaging, electroencephalography and gene analysis. There is no specific treatment for ROHHAD syndrome. Management of a child with ROHHAD syndrome is a multidisciplinary team approach based on the child's symptoms such as diet, exercise, hormone replacement, behavioural therapy, support with artificial ventilation and medication. Nurses have a vital role in supporting the children with ROHHAD syndrome and their families.

Interventions to prevent recurrent heart failure in patients with idiopathic central alveolar hypoventilation syndrome complicated by obesity and obstructive sleep apnea syndrome

Interventions to prevent recurrent heart failure in patients with idiopathic central alveolar hypoventilation syndrome complicated by obesity and obstructive sleep apnea syndrome

SLEEP DISORDERED BREATHING FEATURES, EVOLUTION AND MANAGEMENT OF A PATIENT WITH ROHHAD SYNDROME

SESSION TITLE: Medical Student/Resident Sleep Disorders Posters SESSION TYPE: Med Student/Res Case Rep Postr PRESENTED ON: October 18-21, 2020 INTRODUCTION: ROHHAD syndrome (rapid-onset obesity, hypothalamic dysregulation, hypoventilation and autonomic dysregulation), is a condition of unknown etiology with only about 100 cases reported worldwide, and a high mortality from alveolar hypoventilation. CASE PRESENTATION: A male patient was diagnosed at age six with ROHHAD syndrome, with features of morbid obesity, diabetes insipidus, hyperprolactinemia, hypogonadism, neuroganglioma and multiple respiratory abnormalities including central alveolar hypoventilation, restrictive lung disease (RLD) and obstructive sleep apnea (OSA). At age ten his weight was 103 kg and neck circumference 41 cm. Spirometry showed mild restrictive pattern and polysomnography (PSG) revealed moderate sleep apnea. Direct laryngoscopy was unrevealing. He was started on nocturnal volume and pressure control ventilator with average volume assured pressure support (PC/AVAPS) at 20 breaths/minute (RR), AVPAS rate: 2, maximum inspiratory pressure (MaxIP): 24cmH2O, minimum inspiratory pressure (MinIP) 16cmH2O, tidal volume (TV): 580 cc and end-expiratory pressure (e-EP) 8cmH2O. He continued to gain weight and his functional status declined due to multiple hospitalizations and the nature of the disease. Most recently, at age 19, his weight was 193 kg and NC of 43 cm. His studies showed progression to moderate RLD and severe OSA. Neuromuscular assessment revealed Max IP at -93cmH20 and e-EP of 34cmH2O, suggestive of alveolar hypoventilation and ineffective cough. He has required multiple titrations of his NIV settings, currently: PC/AVAPS mode, RR 16, TV 1200 ml, AVAPS Rate 4, Max IP 36 cmH20, MinIP 18 cmH20, EPAP 14 cmH20, with Auto-Trak and a full-face mask. To date, he continues to be on this regimen for 10 hours at night along with levalbuterol nebulizations as needed. DISCUSSION: ROHHAD syndrome begins with rapid weight gain during early childhood followed by respiratory abnormalities. Endocrine and autonomic disturbances are required to make a diagnosis. Early diagnosis and treatment are imperative. Unfortunately, this remains a progressive, incurable condition with an average survival of 10 years from time from diagnosis. The novelty of this case is that the patient has survived 13 years thus far. We firmly believe that this is in part to the patient’s intense pulmonary and neuromuscular rehabilitation program and to the modality of NIV. By using AVAPS we have avoided the need for 24-hour NIV and tracheostomy (which up to 80% of patients require) as well as the development of pulmonary hypertension. CONCLUSIONS: ROHHAD syndrome requires a multidisciplinary approach along with an aggressive hypoventilation management. AVAPS improves ventilation and delays or may even prevent the need for surgical airway. Additionally, behavioral interventions, NIV titration, oxygen saturation above 95% and CO2 levels between 35-45 mmHg are measures that also seem to render a better prognosis. Reference #1: Reppucci, Diana; Hamilton, Jill; Yeh, E Ann; Katz, Sherri; Al-Saleh, Suhail; Narang, Indra (2016-07-30). “ROHHAD syndrome and evolution of sleep disordered breathing”. Orphanet Journal of Rare Diseases. 11 (1): 106 Reference #2: Kocaay, Pinar; Siklar, Zeynep; Çamtosun, Emine; Kendirli, Tanil; Berberoglu, Merih (December 2014). “ROHHAD Syndrome: Reasons for Diagnostic Difficulties in Obesity”. Journal of Clinical Research in Pediatric Endocrinology. 6 (4): 254–257 Reference #3: Carroll MS, Patwari PP, Kenny AS, Brogadir CD, Stewart TM, Weese-Mayer DA. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD): response to ventilatory challenges. Pediatr Pulmonol. 2015; 50: 1336- 1345. DISCLOSURES: No relevant relationships by Maria De Lourdes Alegría Peña, source=Web Response No relevant relationships by Francisco Davila, source=Web Response No relevant relationships by Fernando Figueroa Rodriguez, source=Web Response No relevant relationships by Matthew Schloop, source=Web Response

Non-invasive APV in a child with the syndrome of central alveolar hypoventilation

Введение : синдром врожденной центральной альвеолярной гиповентиляции (CВЦАГВ) характеризуется нарушением автономной регуляции дыхания, чаще всего во сне, в структуре общей дисфункции автономной нервной системы. СВЦАГВ относится к орфанным заболеваниям. В России на 2018 год с этим диагнозом наблюдаются 29 детей (по информации ассоциации родителей детей с СВЦАГВ). Цель : клинический интерес представляет успешный опыт применения неинвазивной вентиляции легких (НИВЛ) в качестве способа протезирования центральной функции дыхания у ребенка с СВЦАГВ. Материалы и методы : представлен клинический случай ведения ребенка с генетически подтвержденным CВЦАГВ в отделении анестезиологии и реанимации для детей Федерального государственного бюджетного учреждения «Национальный медицинский исследовательский центр имени В. А. Алмазова» Министерства здравоохранения Российской Федерации до выписки домой. Заключение : в представленном случае у пациента с СВЦАГВ удалось добиться стабильного газообмена на фоне этапной адаптации в течение 18 дней к неинвазивной вентиляции легких только во время сна, которая и была выбрана методом хронической респираторной поддержки. Ребенок в возрасте 4 месяцев 14 дней в стабильном состоянии был выписан домой с оборудованием для респираторной поддержки и мониторинга. В каждом случае СВЦАГВ выбор метода вспомогательной вентиляции должен осуществляться индивидуально.

Ondine's curse: the origin of the myth.

Central alveolar hypoventilation syndrome has been known for decades as Ondine's curse. It was named as such after a German myth. Although most of the stories resemble one another, word of mouth has led to misinterpretation of this tale among the medical community. The present paper reviews the original narrative, its characters, and how it is linked to the most relevant aspects of the disease.

Central drive and ventilatory failure in late-onset Pompe disease: At the gates of a new phenotype

Subjects with late-onset Pompe disease (LOPD) typically present as slowly progressive proximal muscle weakness. Respiratory muscle weakness and diaphragmatic paralysis are common features, and may be the initial manifestation of the disease. There is often a poor correlation between the severity of limb and respiratory muscle weakness. Early clinical observations about disproportionate hypercapnia to the respiratory muscular weakness in late-onset Pompe disease were recognized and will be discussed with special reference to blunted respiratory drive, and the connections between early clinical observations, respiratory functional studies and anatomical findings. According to new evidence about blunted respiratory drive in Pompe disease, it is necessary to rethink what is meant by “asymptomatic Pompe disease” and propose a new phenotype with its therapeutic implications. The conceptual model of the mechanisms leading to respiratory failure in this disease could be considered according to these new findings. It may broaden the diagnostic spectrum of the adult forms and warrants a closer interaction between neurologists and pulmonologists. The recognition of this new phenotype of predominant central alveolar hypoventilation in Pompe disease will improve the understanding of the underlying mechanisms of ventilatory failure and could lead to improved future therapeutic strategies.

Current Perspectives for the use of Gonane Progesteronergic Drugs in the Treatment of Central Hypoventilation Syndromes.

Background: Central alveolar hypoventilation syndromes (CHS) encompass neurorespiratory diseases resulting from congenital or acquired neurological disorders. Hypercapnia, acidosis, and hypoxemia resulting from CHS negatively affect physiological functions and can be life-threatening. To date, the absence of pharmacological treatment implies that the patients must receive assisted ventilation throughout their lives.Objective: To highlight the relevance of determining conditions in which using gonane synthetic progestins could be of po-tential clinical interest for the treatment of CHS.Methods: The mechanisms by which gonanes modulate the respiratory drive were put into the context of those established for natural progesterone and other synthetic progestins.Results: The clinical benefits of synthetic progestins to treat respiratory diseases are mixed with either positive outcomes or no improvement. A benefit for CHS patients has only recently been proposed. We incidentally observed restoration of CO2 chemosensitivity, the functional deficit of this disease, in two adult CHS women by desogestrel, a gonane progestin, used for contraception. This effect was not observed by another group, studying a single patient. These contradictory findings are probably due to the complex nature of the action of desogestrel on breathing and led us to carry out mechanistic studies in rodents. Our results show that desogestrel influences the respiratory command by modulating the GABAA and NMDA sig-naling in the respiratory network, medullary serotoninergic systems, and supramedullary areas.Conclusion: Gonanes show promise for improving ventilation of CHS patients, although the conditions of their use need to be better understood

Acquired central hypoventilation: A relatively rare complication following coronary artery bypass grafting

A posterior circulation stroke acquired Ondine's curse occurs following medullary infarction. Central alveolar hypoventilation, a sine qua non of this stroke, is characterized by unpredictable episodes of sleep apnea that is associated with a high mortality rate. Postcoronary artery bypass grafting, a 64-year-old male developed embolic medullary infarct leading to recurrent episodes of apnea. This was managed with tracheostomy and mechanical ventilation. Intensive respiratory monitoring is of the essence during the acute and subacute stages in these patients.

Diaphragm pacing stimulation system in patient with central alveolar hypoventilation: case report and first experience in Turkey

Diaphragm pacing stimulation system in patient with central alveolar hypoventilation: case report and first experience in Turkey

Central Hypoventilation Syndromes

Conditions causing central alveolar hypoventilation are uncommon in children, but have a profound impact on the lives of those affected. As research continues to elucidate the underlying mechanisms behind these conditions, the goal will be better identification and treatment of respiratory and nonrespiratory manifestations. Current therapy for central hypoventilation focuses on achieving normal gas exchange, primarily through mechanical ventilation. Early identification of central hypoventilation and initiation of appropriate ventilation strategies can help to improve outcomes associated with chronic hypoxemia. As with all complex pediatric medical conditions, the difficulties of different modes of mechanical ventilation must always be weighed against the child's overall quality of life to determine the most appropriate therapy. Many children, particularly those with CCHS, are able to lead fulfilling lives with appropriate management.

Central Alveolar Hypoventilation (Ondine's Curse) Caused by Megadolichobasilar Artery

Central alveolar hypoventilation (CAH) syndrome is a clinical condition that is characterized by the loss of automatic breathing, particularly during sleep. Most forms in adults are caused by brainstem ischemia, mass, infection, demyelinating disease, or anoxic-ischemic damage. We present a case of a fatal symptomatic acquired CAH syndrome caused by megadolichobasilar artery. A 62-year-old man with pre-existing vascular dementia suffered an acute posterior stroke. During stroke care, long episodes of hypopnea and apnea were observed which responded well to verbal reminders. During an unobserved episode, the patient was found unresponsive, with chemical signs of prolonged hypoventilation not explainable by cardiopulmonary disease. A diaphragmatic pacemaker, assisted ventilation, and repeated resuscitation were refused by the patient, who died some days later. CAH is a rare complication that can occur in patients with megadolichobasilar artery.

Le syndrome d’Ondine: l’anesthésie pour l’implantation par laparoscopie d’un stimulateur phrénique intradiaphragmatique

Central alveolar hypoventilation syndrome (CAHS) is a rare disease characterized by the loss of autonomic control of breathing. This condition causes hypoventilation and obstruction during sleep. Throughout their lives, these patients require ventilatory assistance by means of positive pressure ventilation to their lungs via mask, tracheotomy, or other means, such as phrenic nerve pacers. The diaphragm pacing stimulation system (DPSS) is a new treatment where electrodes are implanted into the diaphragm and cause contraction on stimulation. The DPSS has been used successfully in tetraplegic patients and patients suffering from amyotrophic lateral sclerosis (ALS). It has been shown to improve quality of life and to extend survival in patients with advanced respiratory muscle weakness. In our case, we describe the perioperative management of an adult patient with acquired CAHS who presented for laparoscopic DPSS insertion. Our patient was a 50-yr-old female who developed CAHS at age thirteen after contracting encephalitis. Since the onset of her disease, she had been managed with positive pressure ventilation to her lungs via mask. Due to her longstanding disease, she presented with pulmonary hypertension and cor pulmonale and was scheduled for laparoscopic DPSS implantation. Our anesthetic technique included a total intravenous technique with remifentanil and propofol, and her trachea was intubated without the use of muscle relaxants. The pacemakers were switched on when the patient emerged from anesthesia, which provided her with ventilatory support and allowed us to extubate her trachea. We present the successful anesthetic management of an adult patient with CAHS undergoing laparoscopic DPSS insertion.

Practice parameters for the respiratory indications for polysomnography in children.

There has been marked expansion in the literature and practice of pediatric sleep medicine; however, no recent evidence-based practice parameters have been reported. These practice parameters are the first of 2 papers that assess indications for polysomnography in children. This paper addresses indications for polysomnography in children with suspected sleep related breathing disorders. These recommendations were reviewed and approved by the Board of Directors of the American Academy of Sleep Medicine. A systematic review of the literature was performed, and the American Academy of Neurology grading system was used to assess the quality of evidence. RECOMMENDATIONS FOR PSG USE: 1. Polysomnography in children should be performed and interpreted in accordance with the recommendations of the AASM Manual for the Scoring of Sleep and Associated Events. (Standard) 2. Polysomnography is indicated when the clinical assessment suggests the diagnosis of obstructive sleep apnea syndrome (OSAS) in children. (Standard) 3. Children with mild OSAS preoperatively should have clinical evaluation following adenotonsillectomy to assess for residual symptoms. If there are residual symptoms of OSAS, polysomnography should be performed. (Standard) 4. Polysomnography is indicated following adenotonsillectomy to assess for residual OSAS in children with preoperative evidence for moderate to severe OSAS, obesity, craniofacial anomalies that obstruct the upper airway, and neurologic disorders (e.g., Down syndrome, Prader-Willi syndrome, and myelomeningocele). (Standard) 5. Polysomnography is indicated for positive airway pressure (PAP) titration in children with obstructive sleep apnea syndrome. (Standard) 6. Polysomnography is indicated when the clinical assessment suggests the diagnosis of congenital central alveolar hypoventilation syndrome or sleep related hypoventilation due to neuromuscular disorders or chest wall deformities. It is indicated in selected cases of primary sleep apnea of infancy. (Guideline) 7. Polysomnography is indicated when there is clinical evidence of a sleep related breathing disorder in infants who have experienced an apparent life-threatening event (ALTE). (Guideline) 8. Polysomnography is indicated in children being considered for adenotonsillectomy to treat obstructive sleep apnea syndrome. (Guideline) 9. Follow-up PSG in children on chronic PAP support is indicated to determine whether pressure requirements have changed as a result of the child's growth and development, if symptoms recur while on PAP, or if additional or alternate treatment is instituted. (Guideline) 10. Polysomnography is indicated after treatment of children for OSAS with rapid maxillary expansion to assess for the level of residual disease and to determine whether additional treatment is necessary. (Option) 11. Children with OSAS treated with an oral appliance should have clinical follow-up and polysomnography to assess response to treatment. (Option) 12. Polysomnography is indicated for noninvasive positive pressure ventilation (NIPPV) titration in children with other sleep related breathing disorders. (Option) 13. Children treated with mechanical ventilation may benefit from periodic evaluation with polysomnography to adjust ventilator settings. (Option) 14. Children treated with tracheostomy for sleep related breathing disorders benefit from polysomnography as part of the evaluation prior to decannulation. These children should be followed clinically after decannulation to assess for recurrence of symptoms of sleep related breathing disorders. (Option) 15. Polysomnography is indicated in the following respiratory disorders only if there is a clinical suspicion for an accompanying sleep related breathing disorder: chronic asthma, cystic fibrosis, pulmonary hypertension, bronchopulmonary dysplasia, or chest wall abnormality such as kyphoscoliosis. (Option) RECOMMENDATIONS AGAINST PSG USE: 16. Nap (abbreviated) polysomnography is not recommended for the evaluation of obstructive sleep apnea syndrome in children. (Option) 17. Children considered for treatment with supplemental oxygen do not routinely require polysomnography for management of oxygen therapy. (Option) Current evidence in the field of pediatric sleep medicine indicates that PSG has clinical utility in the diagnosis and management of sleep related breathing disorders. The accurate diagnosis of SRBD in the pediatric population is best accomplished by integration of polysomnographic findings with clinical evaluation.

Phrenic nerve stimulation: The Australian experience

Phrenic nerve stimulation is a technique whereby a nerve stimulator provides electrical stimulation of the phrenic nerve to cause diaphragmatic contraction. The most common indications for this procedure are central alveolar hypoventilation and high quadriplegia. This paper reviews the available data on the 19 patients treated with phrenic nerve stimulation in Australia to date. Of the 19 patients, 14 required pacing due to quadriplegia, one had congenital central hypoventilation syndrome and one had brainstem encephalitis. Information was unavailable for the remaining three patients. Currently, 11 of the pacers are known to be actively implanted, with the total pacing duration ranging from 1 to 21 years (mean 13 years). Eight of the 19 patients had revision surgeries. Four of these were to replace the original I-107 system (which had a 3–5-year life expectancy) with the current I-110 system, which is expected to perform electrically for the patient’s lifetime. Three patients had revisions due to mechanical failure. The remaining patients’ notes were incomplete. These data suggest that phrenic nerve stimulation can be used instead of mechanical ventilators for long-term ongoing respiratory support.

Central Alveolar Hypoventilation and Failure to Wean from the Ventilator

A 66-year-old woman was transferred to our respiratory care unit for “failure to wean” from the mechanical ventilator. Initially admitted to another hospital for worsening headaches and nausea, she awoke with dysphagia, dysphonia, hypothermia (body temperature 93°F), and sinus bradycardia (heart rate ∼40); she was later found to be apneic and required intubation for hypercapnic respiratory failure. Personnel at the other hospital attempted twice to extubate the patient, but she was unable to clear her secretions and developed hypercapnia, leading to transfer to our facility for further management. Medical history included smoldering myeloma, migraine headaches, and hypothyroidism. Her thyrotropin stimulating hormone (TSH) level was normal. Arterial blood gas (ABG) drawn while the patient was awake revealed a mildly elevated PCO2 of 45, but, during sleep, the level increased to the mid-60s. Of note, the patient was able to normalize her daytime PCO2 by voluntarily increasing her ventilation. She also had periodic apneas while sleeping, triggering ventilatory alarms while she was on pressure-support mode and, therefore, requiring a back-up rate. She also had significant bradyarrhythmias during sleep, with sinus pauses of approximately 4 seconds. The patient had a tracheostomy tube, through which she was ventilated during the night and that was corked during the day. Except for dysphonia and bilateral Babinski signs, the neurologic examination, including the cranial nerves and cerebellar exam, revealed no abnormalities. The findings of the chest radiograph and maximal respiratory pressures performed at the bedside were normal. Electromyogram of the diaphragm and phrenic nerves revealed no evidence of a neuromuscular disorder. A central cause for hypoventilation was suspected; a brain magnetic resonance imaging scan revealed abnormal, bilateral, symmetric T-2 hyperintensities within the lateral medulla (Figure 1) with no clear cause. Figure 1 Presence of abnormal, symmetrical, bilateral lesions in the lateral medulla (white arrow). What is the diagnosis? Answer: Acquired central alveolar hypoventilation due to bilateral medullary lesions Congenital central alveolar hypoventilation is a rare but severe condition that usually affects infants. The syndrome is characterized by hypoventilation that is worse during sleep than wakefulness and is unexplained by primary pulmonary, neurologic, or metabolic disease.1–3 The hypoventilation is often worse during non-rapid eye movement (NREM) sleep than during rapid eye movement (REM) sleep because the control of breathing is entirely metabolic during NREM sleep.4 Patients with congenital central hypoventilation syndrome also have abnormalities of autonomic nervous system function, such as Hirschsprung disease. A suspected diagnosis of congenital central hypoventilation syndrome is confirmed by genetic testing for mutations in the PHOX2b gene.5,6 Acquired central alveolar hypoventilation has similar clinical features and reportedly results from lesions affecting the medullary centers that specifically control respiration.7, 8 The acquired form has been reported to occur secondary to brainstem infarction, hemorrhage, encephalitis, demyelinating diseases, and nonspecific anoxic insult.7 Ventilatory support at night may correct the hypoventilation; however, patients with severe manifestations may require ventilatory support during the day as well. Medications such as acetazolamide, levothyroxine, and clomipramine have been tried with minimal clinical benefit. Due to the precarious position of the medullary lesions in our patient, biopsies were not performed. She developed pancytopenia and was treated with cyclophosphamide and intravenously administered methylprednisolone after the diagnosis of multiple myeloma was confirmed. The bilateral medullary lesions were assumed to be related to myeloma and improved with chemotherapy. Though the symptoms of dysphagia and dysphonia improved, the hypoventilation and sinus bradycardia persisted while the patient was asleep. Central sleep apnea was documented by a split-night overnight polysomnogram with the tracheostomy tube corked. The apnea-hypopnea index (AHI) was 83 per hour. The very high AHI appeared to be due to repetitive short central apneas (Figure 2A). This was treated with a bilevel positive pressure airway device with a spontaneous timed (BPAP-ST) mode (Figure 2B). Because the patient's symptoms responded very well to BPAP-ST (Figure 2B) with a back-up rate of 14 breaths per minute, the tracheostomy tube was removed before the patient was transferred to a skilled nursing facility for further care and rehabilitation. Figure 2 (A) Compressed diagnostic portion of the polysomnogram focusing on the respiratory and electrocardiogram (ECG) channels (120-s epoch) showing repetitive short central apneas associated with bradyarrhythmias. A breathing pattern of closely grouped series ...

Fracaso en el destete de la ventilación mecánica. La maldición de Ondine: caso clínico y revisión

Cerebral lesions after a stroke present different clinical features depending on the neurological structures affected. Complications after an injury in the respiratory center may lead to prolonged mechanical ventilation. Among these possible complications there is a rare neurological condition called “Ondine's curse” that is caused by spontaneous breathing failure. Patients who suffer this syndrome cannot breathe automatically and need to control their respiration consciously and voluntarily. We report the case of a woman who developed a syndrome of central alveolar hypoventilation secondary to an injury in respiratory center after a hemorrhagic stroke. We have reviewed the etiology, physiopathology, diagnosis and treatment of patients with Ondine's curse.