1/115. Resolution of obstructive sleep apnea syndrome after adenoidectomy in congenital central hypoventilation syndrome.We report on a 2 1/2-year-old boy who is currently ventilated at home by positive pressure ventilation through a nasal mask during the night because of congenital central hypoventilation syndrome (CCHS). Up to age 2 he had developed normally. A reevaluation was performed because of symptoms suggestive of obstructive sleep apnea syndrome (OSAS), including snoring, nocturnal sweating, frequent nighttime awakenings, speech impairment, daytime fatigue, and failure to thrive. A sleep study indicated obstructive apnea episodes lasting up to 40 s and arterial desaturations below 50% during spontaneous sleep. During mechanical ventilation snoring persisted, and capillary PCO2 rose to 60 mm Hg. Partial upper airway obstruction, leaking around the mask, and arousal movements developed on passive flexion of the neck to 20 degrees. After adenoidectomy, symptoms of OSAS resolved. There were no more obstructive apneas during spontaneous sleep, but obstructive apneas could be provoked by neck flexion to 20 degrees. During ventilation, neck flexion of 20 degrees was tolerated, but a 40 degrees flexion led to partial obstruction. In CCHS patients, the problem of upper airway obstruction is rarely noted because most patients are ventilated through a permanent tracheostomy. Today, noninvasive ventilation strategies are becoming more common. Reduced activity of upper airway muscles and impaired reflex mechanisms could lead to upper airway obstruction during face mask positive pressure ventilation in children with CCHS. Enlarged adenoids worsened this problem in our patient, leading to insufficient ventilation and OSAS. adenoidectomy resolved symptoms of OSAS and enabled successful nasal mask ventilation. Close follow-up of the patient avoided hypoxia and sequelae from OSAS such as pulmonary hypertension.- - - - - - - - - - ranking = 1keywords = hypoventilation syndrome, hypoventilation (Clic here for more details about this article) |
2/115. association of misoprostol, Moebius syndrome and congenital central alveolar hypoventilation. Case report.We report a case showing the association of Moebius syndrome, the use of misoprostol during pregnancy and the development of central congenital alveolar hypoventilation. Pathophysiological aspects of these three diseases are discussed and also the unfavorable prognosis of this association.- - - - - - - - - - ranking = 0.21673350897082keywords = hypoventilation (Clic here for more details about this article) |
3/115. heart block following propofol in a child.We present the case of a nine-year-old boy afflicted with Ondine's curse, who developed complete atrioventricular heart block after a single bolus of propofol for induction of anaesthesia for strabismus surgery. Ondine's curse, the other name for congenital central hypoventilation syndrome, is characterized by a generalized disorder of autonomic function. propofol has no effect on the normal atrioventricular conduction system in humans but it reduces sympathetic activity and can highly potentiate other vagal stimulation factors. heart block has been documented after propofol bolus use in adults but, to our knowledge, not in children. It would appear that propofol is not a good choice for anaesthesia in congenital central hypoventilation syndrome.- - - - - - - - - - ranking = 0.4keywords = hypoventilation syndrome, hypoventilation (Clic here for more details about this article) |
4/115. Bone amyloidoma in a diabetic patient with morbid obesity.Bone localisations of amyloidosis are rare, usually diffuse and associated with myeloma. We report the case of a patient with massive obesity complicated by diabetes, hypertension, sleep apnea and liver steatosis, who complained of rapidly worsening bilateral polyradiculalgia of the lower limbs. After sufficient weight loss made nuclear magnetic resonance imaging feasible, a spinal tumour was visualised on the 5th lumbar vertebra, extending to soft tissues. Total excision was performed, and pathological studies revealed an amyloid bone tumour with no evidence of myeloma.- - - - - - - - - - ranking = 0.0001270994008671keywords = obesity (Clic here for more details about this article) |
5/115. Anesthetic care for the child with congenital central alveolar hypoventilation syndrome (Ondine's curse).Idiopathic congenital central alveolar hypoventilation syndrome, otherwise known as Ondine's curse, is a rare neuropathologic syndrome characterized by an inadequate respiratory drive with hypoventilation and periods of prolonged apnea resulting in hypercarbia and hypoxemia. Although no definite pathologic abnormality has been identified to account for the disorder, it is thought to represent a primary defect related to altered function of central chemoreceptors resulting in defective control of minute ventilation. Associated problems related to neural crest cell migration, including neuroblastoma formation and Hirschsprung's disease, suggest that the primary defect is defective neural crest cell migration and function. Problems that may impact on perioperative care include the defective central control of ventilation and defective control of upper respiratory musculature, which may lead to upper airway obstruction. Although many patients will have previously undergone tracheostomy and chronic mechanical ventilation, problems in other organ systems can impact on perioperative care. Cardiovascular issues include the possible presence of cor pulmonale and autonomic nervous system dysfunction. central nervous system issues include the frequent occurrence of seizures and mental retardation. The preoperative work-up, premedication, and the intraoperative/postoperative care and monitoring of these patients is reviewed.- - - - - - - - - - ranking = 1.0433467017942keywords = hypoventilation syndrome, hypoventilation (Clic here for more details about this article) |
6/115. Unexpectedly severe sleep and respiratory pathology in patients with amyotrophic lateral sclerosis.Daytime fatigue and sleep disturbance are frequent complaints in patients with amyotrophic lateral sclerosis (ALS). However, polysomnographic data are sparse. Nocturnal respiratory insufficiency may occur despite nearly normal daytime pulmonary function. We describe the clinical presentation and polysomnographic findings in two patients with clinically and electrophysiologically confirmed ALS with minimal weakness but excessive daytime sleepiness. polysomnography in the first patient showed a respiratory disturbance index of 43.5, and profound oxygen desaturations to 62%. The second patient had prolonged periods of hypoventilation, with oxygen saturations oscillating between 86 and 83%. Both patients showed severe sleep maintenance insomnia with a sleep efficiency < 40% and frequent arousals while asleep. Application of continuous positive airway pressure (CPAP) restored normal nocturnal ventilation, blood oxygenation and sleep parameters in the first patient; compliance, however, was poor. The second patient was unable to tolerate CPAP. We conclude that ALS patients with excessive daytime sleepiness or insomnia should undergo polysomnography to adequately diagnose nocturnal respiratory insufficiency and sleep disturbance. compliance with treatment, however, may be poor.- - - - - - - - - - ranking = 0.043346701794164keywords = hypoventilation (Clic here for more details about this article) |
7/115. Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.Nemaline myopathy is a clinically and genetically heterogeneous condition. The clinical spectrum ranges from severe cases with antenatal or neonatal onset and early death to late onset cases with only slow progression. Three genes are known to cause nemaline myopathy: the genes for nebulin (NEB) on chromosome 2q22, slow alpha-tropomyosin (TPM3) on chromosome 1q21 and skeletal muscle alpha-actin (ACTA1) on chromosome 1q42. We present a 39-year-old lady with a mild form of nemaline myopathy, whom we have followed over a period of 25 years. She presented at the age of 7 years with symptoms of mild axial and proximal muscle weakness. The overall course was essentially static, but at 36 years, she went into life-threatening respiratory failure, for which she is currently treated with night-time ventilation. Muscle biopsies at 12, 17 and 39 years of age showed typical nemaline rods, particularly in type 1 fibres. Areas with unevenness of oxidative stain were present in the second and third biopsies. The presence of rods and core-like areas was confirmed on electron microscopy. There was no detectable alteration in actin expression immunocytochemically. A dominant missense mutation in the skeletal muscle alpha-actin gene (ACTA1) was found. This case illustrates the clinical and genetic heterogeneity of nemaline myopathy, and one phenotype of the wide spectrum of severity caused by mutations in the skeletal muscle alpha-actin (ACTA1) gene. In addition, it shows the diversity of pathological features that can occur in congenital myopathies due to mutations in the same gene.- - - - - - - - - - ranking = 0.17338680717666keywords = hypoventilation (Clic here for more details about this article) |
8/115. Aggregated occurrence of sleep apnea syndrome in a family.We experienced a family in whom sleep apnea syndrome (SAS) was recognized in six members and habitual snoring in seven members among 26 subjects of four generations. In all members with snoring, the disorder was noticed before the age of 20. Hypercapnic response study showed normal findings, and ultrafast magnetic resonance image of the upper airway revealed that the obstruction of the upper airway occurred at the velopharyngeal portion during apneic episodes in all SAS-afflicted subjects. In this family, the similar craniofacial structural abnormalities were thought to cause the aggregated occurrences of the disorders at young ages, and obesity was regarded as a contributor for the aggravated symptoms.- - - - - - - - - - ranking = 2.541988017342E-5keywords = obesity (Clic here for more details about this article) |
9/115. heart block in patients after bariatric surgery accompanying sleep apnea.BACKGROUND: heart block and bradycardia during sleep has been reported in patients with obesity. The occurrence of bradyarrhythmias in patients after undergoing bariatric surgery has not been reported. methods: Over a period of 6 months, 3 patients who underwent laparoscopic weight reduction surgery developed prolonged heart block during sleep. Clinical course and follow-up are presented. RESULTS: All 3 patients were diagnosed with sleep apnea. For 2 of these patients this was a new diagnosis. The episodes of heart block coincided with their episodes of sleep apnea. During follow-up of at least 6 months, no patient has had any adverse consequences related to their nocturnal heart block. CONCLUSION: heart block during sleep is sometimes seen in patients undergoing bariatric surgery. The cause is sleep apnea, which often is worsened in the postoperative state due to narcotic analgesics. These patients require treatment of their sleep apnea, not pacemakers.- - - - - - - - - - ranking = 2.541988017342E-5keywords = obesity (Clic here for more details about this article) |
10/115. Congenital central hypoventilation syndrome associated with Hirschsprung's disease: mutation analysis of the RET and endothelin-signaling pathways.Three cases of congenital central hypoventilation syndrome (CCHS) associated with Hirschsprung's disease (HSCR) were examined with respect to their genomic dna on the coding region of the receptor tyrosine kinase (RET) and the endothelin-B receptor (EDNRB). No causative mutations for the disease were detected, but one polymorphism was observed in exon 11 of the RET proto-oncogene. In cases with CCHS, HSCR occurs with a high incidence, and this disease complex has been described as neurocristopathy due to aberrations in neural crest cell proliferation, differentiation or migration during the early fetal period. Both the RET and EDNRB may play important roles in the modulation of neurocristopathies; however, further systemic studies in a large population of patients and control subjects are necessary for elucidating the pathogenesis of this disorder.- - - - - - - - - - ranking = 1keywords = hypoventilation syndrome, hypoventilation (Clic here for more details about this article) |
| | Next -> |