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1/17. Chiari malformation and sleep-disordered breathing: a review of diagnostic and management issues.

    Chiari Malformation (CM) encompasses several patterns of congenital or acquired cerebellar herniation through the foramen magnum. This may result in brain-stem compression that impacts control of breathing and is associated with obstructive and central apneas. A high clinical suspicion for sleep-disordered breathing is needed in the care of such patients after as well as before corrective surgery. To introduce a review of CM with a focus on the relevance to sleep medicine, we present a case of a 13-year-old female who was diagnosed with CM Type 1 in the course of an evaluation of symptomatic central sleep apnea. After initial improvement following surgery there was recurrence of brain-stem compression. The only clinical expression of which was polysomnographically evident recurrence of sleep apnea.
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2/17. syringomyelia and bilateral vocal fold palsy.

    This is a case of a 35-year-old who had complained of noisy breathing for 15 years, and had been on treatment for 'chronic asthma'. She presented to the Accident and Emergency department with an acute episode of difficulty with breathing, and on admission was found to have stridor and bilateral abductor vocal fold palsy. Further workup revealed a syringomyelia with an associated Chiari type 1 malformation. It is important to consider the above diagnosis in the differential of young adults with breathing difficulties. A discussion of syringomyelia, Chiai malformations and bilateral vocal fold palsy follows.
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3/17. arnold-chiari malformation type I and sleep-disordered breathing: an uncommon manifestation of an important pediatric problem.

    A case review of a healthy 3-year-old toddler with a chief complaint of sleep-disordered breathing is presented. The child underwent a pneumogram sleep study with significant abnormal findings. magnetic resonance imaging led to a diagnosis of Arnold-Chiari type I malformation and the need for posterior fossa decompression. The child has been monitored, and 1 year postoperatively, her sleep apnea has resolved and day-time function and development remain normal. Definitions of the different types of arnold-chiari malformation are discussed, with sleep apnea presenting as the only symptom. The importance of a sleep history as part of the practitioner's pediatric assessment is explored.
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4/17. Obstructive sleep apnea in arnold-chiari malformation treated with acetazolamide.

    We studied respiratory patterns and transcutaneous gas pressures in two infants with Arnold-Chiari type II malformation referred to us due to repeated episodes of stridor and cyanosis. During both active and quiet sleep, respiration was irregular and absent or inverse thoracic breathing movements and frequent decreases in oxygen saturation to below 80% were observed. When breathing air with 2% CO2 or when given acetazolamide 10 mg/kg, chest wall movements normalized and oxygenation increased to near normal levels. After three months of treatment with acetazolamide 20 mg/kg/24 h no further episodes of hypoventilation or hypoxemia were observed and further treatment could be discontinued. We conclude that stimulation of respiration by CO2 or by acetazolamide appears to recruit chest wall muscles and promote upper airway patency in arnold-chiari malformation. A treatment trial with acetazolamide seems justifiable in these infants when respiratory problems are present.
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5/17. Acute respiratory failure and sleep-disordered breathing in arnold-chiari malformation.

    We report on the case of a 32-year-old man who was admitted after an episode of acute respiratory failure. Clinical and laboratory investigations revealed nocturnal hypoventilation with predominately obstructive sleep apneas accompanied by lower cranial nerve palsies, cerebellar and mild pyramidal signs. magnetic resonance imaging disclosed Arnold-Chiari type I malformation with syringomyelia. transcranial magnetic stimulation demonstrated the integrity of the corticodiaphragmatic pathway and it was postulated that the respiratory disorder was mainly due to the severe and irreversible lower cranial nerve palsies. Two years after decompressive craniectomy, sleep disordered-breathing persisted despite no radiological evidence of brain stem compression. Nevertheless, non-invasive positive pressure ventilation (NIPPV) during sleep proved to be quite effective in the management of the patient's refractory respiratory insufficiency. In conclusion, Arnold-Chiari type I may rarely present with acute respiratory failure and sleep apneas. An electrophysiological investigation into the mechanism of the respiratory dysfunction is presented.
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6/17. Chiari I malformation in patients with FG syndrome.

    OBJECT: The FG syndrome (FGS) is a common, heterogeneous group of clinically indistinguishable X-linked disorders comprising congenital hypotonia, macrocephaly, psychomotor delay, abnormalities in sensory integration, agenesis of corpus callosum, an unusual personality with behavior abnormalities, and disturbances of gastrointestinal function. On magnetic resonance (MR) imaging, some patients have evidence of tonsillar ectopia. The authors describe the incidence of Chiari I malformation in patients with FGS and attempt to determine the optimal treatment of these patients. methods: The authors performed a retrospective chart and radiological review of 144 pediatric patients with FGS for evidence of tonsillar ectopia on brain MR imaging. Eleven (7.6%) of these 144 patients had tonsillar ectopia, and in eight patients (5.6%), the tonsils were located more than 5 mm below the foramen magnum. Four of these patients underwent posterior fossa decompression, and surgery was performed at a mean age of 3 years. Indications for surgery included significant headaches and behavioral problems in two patients and failure to thrive with severe breathing and feeding difficulties in two infants. All four improved after surgery. The other patients remained asymptomatic from their tonsillar ectopia, showed no clinical or radiological signs of progression, and did not require surgery. CONCLUSIONS: Chiari I malformation is more common in individuals with FGS than in the general population. Some of these patients with FGS require decompression surgery, but the decision to operate can be difficult because of their developmental delay, difficulties with language skills, general fatigue, possibility of upper motor neuron dysfunction, behavioral problems, or failure to thrive, which may mask the symptoms of a Chiari I malformation.
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7/17. Arnold Chiari type 1 malformation presenting with sleep disordered breathing in well children.

    Healthy children, aged 3, 9, and 13 years referred with sleep disordered breathing had marked central apnoea and bradypnoea on polysomnography, necessitating the use of non-invasive bilevel ventilation in two cases. Each had normal neurological examinations and an Arnold Chiari type 1 malformation was confirmed on magnetic resonance imaging. All underwent urgent posterior fossa decompression which normalised their sleep breathing.
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8/17. Use of caffeine in the treatment of apnea associated with the arnold-chiari malformation.

    The occurrence of significant apnea has been reported in infants with arnold-chiari malformation (ACM). We report 1 infant with ACM and severe apnea treated with caffeine therapy. There was a marked decrease in apnea frequency, less variability in breathing patterns, and a shift to the left of the CO2 response curve with caffeine. Our findings in 1 infant suggest that caffeine may be an effective adjunct in the treatment of apnea associated with ACM.
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9/17. arnold-chiari malformation and paralysis of the diaphragm.

    A woman aged 17 years presented with symptoms of somnolence. A bilateral diaphragmatic paralysis and an arnold-chiari malformation were diagnosed. lung function tests revealed a marked restrictive defect and a blunted ventilatory response to hypercapnia and hypoxia. A sleep study also showed central apneas, an irregular pattern of breathing and marked hypoventilation.
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10/17. sleep apnea and vocal cord paralysis secondary to type I Chiari malformation.

    A previously healthy 13-year-old boy without myelodysplasia who had mild scoliosis was seen with complaints of nasal congestion, noisy nighttime breathing, and difficulty sleeping. Flattening of the inspiratory loop on the flow-volume curve was found on pulmonary function testing, suggesting a variable extrathoracic obstruction due to a laryngeal lesion. Bilateral abductor vocal cord paralysis and sleep apnea developed precipitously following general anesthesia. Further workup demonstrated a type-I Chiari malformation with syringomyelia. Brainstem abnormalities such as Chiari malformation with secondary tenth cranial nerve deficits should be considered in previously healthy children and adolescents with signs and symptoms of upper airway obstruction and apnea.
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