ENT and mucopolysaccharidoses

Pier Marco Bianchi, Renato Gaini, Silvano Vitale

Research output: Contribution to journalReview article

Abstract

The mucopolysaccharidoses (MPS) are a heterogeneous group of inherited metabolic disorders, each associated with a deficiency in one of the enzymes involved in glycosaminoglycan (GAG) catabolism. Over time, GAGs accumulate in cells and tissues causing progressive damage, a variety of multi-organ clinical manifestations, and premature death. Ear, nose, and throat (ENT) disorders affect more than 90% of MPS patients and appear in the early stage of MPS; also reported are recurrent otitis media and persistent otitis media with effusion, macroglossia, adenotonsillar hypertrophy, nasal obstruction, obstructive sleep apnoea syndrome (OSAS), hearing loss, and progressive respiratory disorders. Undiagnosed MPS patients are frequently referred to otolaryngologists before the diagnosis of MPS is confirmed. Otolaryngologists thus have an early opportunity to recognize MPS and they can play an increasingly integral role in the multidisciplinary approach to the diagnosis and management of many children with MPS. The ENT commitment is therefore to suspect MPS when non-specific ENT pathologies are associated with repeated surgical treatments, unexplainable worsening of diseases despite correct treatment, and with signs, symptoms, and pathological conditions such as hepatomegaly, inguinal hernia, macrocephaly, macroglossia, coarse facial features, hydrocephalous, joint stiffness, bone deformities, valvular cardiomyopathy, carpal tunnel syndrome, and posture and visual disorders.

Original languageEnglish
Pages (from-to)127
Number of pages10
JournalItalian Journal of Pediatrics
Volume44
Issue numberSuppl 2
DOIs
Publication statusPublished - Nov 16 2018
Externally publishedYes

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Mucopolysaccharidoses
Pharynx
Nose
Ear
Macroglossia
Signs and Symptoms Pathological Conditions
Megalencephaly
Otitis Media with Effusion
Nasal Obstruction
Premature Mortality
Carpal Tunnel Syndrome
Hepatomegaly
Inguinal Hernia
Vision Disorders
Otitis Media
Obstructive Sleep Apnea
Glycosaminoglycans
Posture
Cardiomyopathies
Hearing Loss

Cite this

Bianchi, P. M., Gaini, R., & Vitale, S. (2018). ENT and mucopolysaccharidoses. Italian Journal of Pediatrics, 44(Suppl 2), 127. https://doi.org/10.1186/s13052-018-0555-0

ENT and mucopolysaccharidoses. / Bianchi, Pier Marco; Gaini, Renato; Vitale, Silvano.

In: Italian Journal of Pediatrics, Vol. 44, No. Suppl 2, 16.11.2018, p. 127.

Research output: Contribution to journalReview article

Bianchi, PM, Gaini, R & Vitale, S 2018, 'ENT and mucopolysaccharidoses', Italian Journal of Pediatrics, vol. 44, no. Suppl 2, pp. 127. https://doi.org/10.1186/s13052-018-0555-0
Bianchi, Pier Marco ; Gaini, Renato ; Vitale, Silvano. / ENT and mucopolysaccharidoses. In: Italian Journal of Pediatrics. 2018 ; Vol. 44, No. Suppl 2. pp. 127.
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