Upper airway obstructive disease in mucopolysaccharidoses: polysomnography, computed tomography and nasal endoscopy findings.

Department of Pediatrics, Federico II University, Via Pansini 5, 80131, Naples, Italy.
Journal of Inherited Metabolic Disease (Impact Factor: 4.07). 11/2007; 30(5):743-9. DOI: 10.1007/s10545-007-0555-5
Source: PubMed

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.

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    Molecular Genetics and Metabolism 01/2013; · 2.83 Impact Factor
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    ABSTRACT: Upper airway obstruction is common in children with mucopolysaccharidosis. The acoustic reflection method is a noninvasive technique that can analyze the caliber of the upper airways. The aim of the study was to evaluate the feasibility of the acoustic reflection method in children with mucopolysaccharidosis, and to compare the characteristics of the upper airways evaluated by the acoustic reflection method in patients with mucopolysaccharidosis to matched healthy counterparts. Open, single center, prospective, study. Accurate acoustic reflection measurements could be obtained in 7 of 10 patients (mean age: 10.4 ± 3.9 years; mucopolysaccharidosis type II (n = 3); type IV (n = 2), type VI (n = 1), and fucosidosis (n = 1)). The mean minimum cross-sectional area was lower in mucopolysaccharidosis patients (1.6 ± 0.3 cm(2) ) as compared to 14 healthy counterparts (1.8 ± 0.3 cm(2); P = 0.03). The mean resistance of the airways was significantly higher in the MPS group (7.9 ± 1.8 cmH(2) O l(-1) sec) as compared to the controls (5.5 ± 1.2 cmH(2) O l(-1) sec; P = 0.006). This study is the first to analyze the upper airways by the noninvasive acoustic reflection method in children with mucopolysaccharidosis. Due to a lack of cooperation, reliable measurements could only be obtained in 70% of a selected group of patients. Children with mucopolysaccharidosis have significant upper airway obstruction as assessed by the reduction of the minimal cross-sectional area of the upper airways and the increase in airway resistance.
    Pediatric Pulmonology 01/2011; 46(6):587-94. · 2.38 Impact Factor
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    Sleep And Breathing 05/2013; · 2.26 Impact Factor