Otorhinolaryngological manifestations in 61 patients with mucopolysaccharidosis
Language English Country Ireland Media print-electronic
Document type Journal Article
PubMed
32502916
DOI
10.1016/j.ijporl.2020.110137
PII: S0165-5876(20)30280-9
Knihovny.cz E-resources
- Keywords
- Acute otitis media, Chronic/recurrent rhinosinusitis, Hearing loss, Mucopolysaccharidosis, Otitis media with effusion, Upper airway obstruction,
- MeSH
- Chronic Disease MeSH
- Child MeSH
- Infant MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Mucopolysaccharidosis I complications diagnosis MeSH
- Mucopolysaccharidosis II complications diagnosis MeSH
- Mucopolysaccharidosis III complications diagnosis MeSH
- Mucopolysaccharidosis IV complications diagnosis MeSH
- Mucopolysaccharidosis VI complications diagnosis MeSH
- Mucopolysaccharidoses complications diagnosis MeSH
- Hearing Loss etiology MeSH
- Airway Obstruction etiology MeSH
- Otitis Media with Effusion etiology MeSH
- Otorhinolaryngologic Surgical Procedures MeSH
- Child, Preschool MeSH
- Retrospective Studies MeSH
- Rhinitis etiology MeSH
- Sinusitis etiology MeSH
- Age Factors MeSH
- Check Tag
- Child MeSH
- Infant MeSH
- Humans MeSH
- Adolescent MeSH
- Young Adult MeSH
- Male MeSH
- Child, Preschool MeSH
- Female MeSH
- Publication type
- Journal Article MeSH
OBJECTIVES: The mucopolysaccharidoses (MPS) are inherited lysosomal storage disorders with multisystemic and highly variable clinical manifestation. ENT symptoms are common and early signs of MPS. The most common ENT diagnoses are chronic/recurrent rhinosinusitis, acute otitis media, otitis media with effusion, hearing loss and airway obstruction. METHODS: A single-centre retrospective chart review of 61 patients (36 M/25F) with different MPS subtypes (MPS I (n = 15), MPS II (n = 10), MPS III (n = 17), MPS IV (n = 15) and MPS VI (n = 4)) was conducted. The age of ENT presentation and frequency of ENT symptoms, surgeries and their distribution among MPS subtypes was studied. The relationship between ENT presentation, first ENT surgery and the age of diagnosis was also evaluated. RESULTS: Median age at the first ENT manifestation was 2.8 years, median age at MPS diagnosis 4.1 years. The great majority of patients (90%) manifested at least one ENT diagnosis; often before the diagnosis of MPS (75%). Chronic/recurrent rhinosinusitis was the most prevalent ENT diagnosis (77%), followed by upper airway obstruction (65%) and hearing loss (53%). Chronic/recurrent rhinosinusitis was the first ENT symptom to appear (median age 2.2 years), followed by otitis media with effusion (3.7 years) and hearing loss (4.5 years). At least one ENT surgery was performed in 57% of patients; in 69% before MPS diagnosis was established. Median age of the first ENT surgery was 4.1 years. ENT symptoms and surgical procedures were earliest present in MPS II. CONCLUSIONS: Our study documents high and early occurrence of various otolaryngologic symptoms in MPS and thus highlights the role of ENT specialist in prompt diagnosis of these rare diseases and their long-term management.
References provided by Crossref.org
Hearing loss in patients with Morquio A syndrome: A scoping review
Hearing Loss in Patients With Morquio Syndrome: Protocol for a Scoping Review
