Upper airway obstructive disease in mucopolysaccharidoses: polysomnography, computed tomography and nasal endoscopy findings.
ABSTRACT In mucopolysaccharidoses, upper airway obstruction has multiple causative factors and progressive respiratory disease may severely affect morbidity and mortality. In a cross-sectional study over 2 years we evaluated upper airway obstructive disease through overnight polysomnography, upper airway computed tomography and nasal endoscopy in 5 children and 6 adults with mucopolysaccharidoses of various types. Measurements of apnoea and apnoea-hypopnoea index, arousal index, and sleep efficiency were obtained through polysomnography. Retropalatal and retroglossal spaces were calculated through computed tomography, and the degree of adenoid hypertrophy was assessed through endoscopy. Apnoea index and apnoea-hypopnoea index were significantly higher in children than in adults with mucopolysaccharidoses (p = 0.03 and p = 0.03, respectively). Compared to healthy controls, retropalatal and retroglossal spaces were significantly smaller in children (p = 0.03 and p = 0.004, respectively) or adults with mucopolysaccharidoses (p = 0.004 and p = 0.004, respectively). All subjects had adenoid hypertrophy causing first-degree (36%) or second-degree (64%) obstruction at endoscopy. Overnight polysomnography, upper airway computed tomography and nasal endoscopy are useful tools for diagnosing obstructive sleep apnoea syndrome in mucopolysaccharidoses, and identifying the site and severity of airway obstruction.
- SourceAvailable from: columbia.eduPediatric Radiology 05/2002; 32(4):228-3; discussion 242-4. · 1.57 Impact Factor
Article: Sleep apnoea in Scheie's syndrome.[show abstract] [hide abstract]
ABSTRACT: An 18-year-old student presented with a two-year history of daytime sleepiness and noisy breathing during sleep. Both he and his brother, aged 25 years, had Scheie's syndrome, a mucopolysaccharidosis characterised by small stature, micrognathia, corneal clouding, hepatosplenomegaly, raised urinary mucopolysaccharides, and undetectable levels of alpha-L-iduronidase assayed in cultured fibroblasts. Both brothers had sleep apnoea (apnoea index, 59 and 35 respectively) during which there was a significant fall in heart rate and arterial oxygen saturation. One brother had EEG changes suggestive of cerebral hypoxia and the other had ventricular extrasystoles at the end of several episodes. Tracheostomy in the younger brother produced a dramatic symptomatic improvement and reduced the number and severity of apnoeic episodes (post-tracheostomy apnoea index 2.4).Thorax 03/1980; 35(2):85-91. · 8.38 Impact Factor
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ABSTRACT: The upper-airway mucosa in obstructive sleep apnea (OSA) patients and snorers is often described as edematous and hyperplastic. The morphologic aspects of the pharyngeal mucosa, and in particular the mucosa of the uvula and soft palate, in OSA patients are, however, not well described. The aim of the present retrospective study therefore was to perform histologic examination of the pharyngeal mucosa obtained from patients with various forms of sleep-related breathing disorders, including primary snoring. A midsagittal section of uvulas obtained by uvulopalatopharyngoplasty (UPPP) was investigated in 34 OSA patients and 9 non-apneic snorers. Control tissues were taken by autopsy in 19 patients not known to have OSA or snoring. A morphometric point counting technique was used to determine the tissue composition. The data showed that OSA patients and non-apneic snorers had a significantly greater percentage of intercellular space than controls (65.7% vs 54.0%; P = 0.006). Control uvulas contained more muscle than OSA and snorers (14.0% vs 7.8%; P = 0.006). Moreover, the covering epithelium was significantly thicker in OSA and snorers than in controls (variance ratio = 7.64; P = 0.008). When taking body mass index (BMI) into account, no correlation was found between fat deposition and BMI. Findings showed that an increased clinical severity of OSA did not affect the tissue composition. Indeed, uvula morphology was similar in OSA patients with respect to non-apneic snorers. Since the increased amount of intercellular space is the expression of edema, we hypothesize that these mucosal changes together with hyperplasia of the covering epithelium are secondary effects to snoring. They presumably play a minor role in the etiopathogenesis of OSA, but may increase the severity of OSA by further narrowing the pharyngeal lumen.Archiv für Klinische und Experimentelle Ohren- Nasen- und Kehlkopfheilkunde 02/2000; 257(4):232-6. · 1.46 Impact Factor