Otorhinolaryngological manifestations of the mucopolysaccharidoses

Simmons, M.; Bruce, Iain; Penney, Susannah; Wraith, Edmond; Rothera, M P

doi:10.1016/j.ijporl.2005.01.017

Cited by 124 publications

(128 citation statements)

References 14 publications

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“…Nevertheless, the high anesthetic risk should only be taken in cases where the procedure has actual potential to change the clinical outcomes of these patients (Simmons et al 2005). In our population, all the individuals tolerated the procedure without sedation, and the information could be obtained as expected.…”

Section: Discussionmentioning

confidence: 99%

Correlation Between Flexible Fiberoptic Laryngoscopic and Polysomnographic Findings in Patients with Mucopolysaccharidosis Type VI

et al. 2015

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This study aimed to compare flexible fiberoptic laryngoscopy (FFL) and polysomnography (PSG) findings in patients with mucopolysaccharidosis (MPS) type VI and to describe upper airway anatomical findings and abnormal PSG results in these patients. In this cross-sectional study, all MPS VI patients followed up at the genetic division of a hospital in southern Brazil were included. Overnight PSG was performed, and the results were classified as normal or mildly, moderately, or severely abnormal. FFL was performed between 7 days before and 7 days after PSG. FFL findings were classified as (1) no obstruction, (2) mild obstruction, (3) moderate obstruction, or (4) severe obstruction of the airways, using the highest score obtained in all the regions.Eleven patients with MPS VI were included. FFL detected severe airway obstruction in eight (72.7%) patients, moderate obstruction in two (18.2%), and mild obstruction in one (9.1%). PSG revealed obstructive sleep apnea syndrome (OSAS) in nine (81.8%) patients. Among these, mild OSAS was observed in five (45.5%) patients, moderate OSAS in three (27.2%), and severe OSAS in one (9.1%). Moderate to severe hypertrophy of the nasal turbinates was found in 81.8% of the patients, and 64% had severe infiltration in the supraglottic region. There was no association between FFL and PSG findings (p ¼ 0.454; k ¼ À0.09; 95%CI ¼ À0.34 to 0.17), indicating no agreement between the two methods. In the present study, all patients with MPS showed some degree of airway obstruction. We suggest performing PSG in MPS patients to determine disease severity.

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Section: Discussionmentioning

confidence: 99%

Correlation Between Flexible Fiberoptic Laryngoscopic and Polysomnographic Findings in Patients with Mucopolysaccharidosis Type VI

et al. 2015

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“…The earliest clinical manifestation of MPS is generally the otolaryngological problems such as recurrent otitis media, hearing loss (conductive>sensorineural), recurrent upper respiratory tract infections, obstructive sleep apnoea syndrome and adenotonsillar hypertrophy. 6,7 Ocular complications such as visual acuity loss, glaucoma, retinopathy, swelling and atrophy of optic nerve and ocular hypertension may be present. 8 The characteristic corneal opacification is due to irregular organisation of corneal collagen and storage of GAGs in corneal cells causing reflection and refraction of light.…”

Section: Discussionmentioning

confidence: 99%

Rare cases of classical Hurler-Scheie syndrome

Saluja

Satoskar

Vaidya

et al. 2016

Int J Contemp Pediatr

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“…Otolaryngological involvement in MPS is due to accumulation of GAG in upper airway leading to obstruction and OSA, thus decreasing the quality of life of MPS patients. [3][4][5][6] Mouth opening status had restricted due to temporomandibular joint involvement in MPSs. MPS type III had significantly better mouth opening than other MPS types.…”

Section: öZetmentioning

confidence: 99%

Otolaryngological findings in mucopolysaccharidosis

Cingi¹

2014

J Med Updates

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Otorhinolaryngological manifestations of the mucopolysaccharidoses

Cited by 124 publications

References 14 publications

Correlation Between Flexible Fiberoptic Laryngoscopic and Polysomnographic Findings in Patients with Mucopolysaccharidosis Type VI

Correlation Between Flexible Fiberoptic Laryngoscopic and Polysomnographic Findings in Patients with Mucopolysaccharidosis Type VI

Rare cases of classical Hurler-Scheie syndrome

Otolaryngological findings in mucopolysaccharidosis

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