Abstract
 Introduction
Mucopolysaccharidoses (MPS) are a group of systemic diseases characterised by a genetic deficiency of lysosomal enzymes that cause the accumulation of glycosaminoglycans in different tissues. The onset of symptoms usually occurs in early childhood, causing problems of otitis media, hearing loss and airway obstruction in the ENT area.
Hearing Loss and Airway Problems in Children With Mucopolysaccharidoses
 
  Keywords
 
 
  
   Mucopolysaccharidoses
  
 
 
  
   Hearing loss
  
 
 
  
   Airway
  
 
Abstract
 Introduction
Mucopolysaccharidoses (MPS) are a group of systemic diseases characterised by a genetic deficiency of lysosomal enzymes that cause the accumulation of glycosaminoglycans in different tissues.
The onset of symptoms usually occurs in early childhood, causing problems of otitis media, <dis>hearing loss</dis> and airway obstruction in the ENT area.
Objective
Describing the audiological findings and airway pathology found in 9 children diagnosed as having MPS.
Methods
A retrospective review was performed of the clinical and audiological findings, exploratory results and therapeutic ENT procedures for 9 children diagnosed with MPS in an ENT service at a tertiary paediatric public centre in the period 2007–2010.
Results
Subtypes found were 4 MPS type I, 2 moderate MPS type II, 1 severe MPS type II, 1 MPS type IV and 1 MPS type VI.
All patients presented chronic middle ear effusions.
A child developed <dis>mild bilateral sensorineural hearing loss</dis>; another case was diagnosed as <dis>mixed hearing loss</dis>.
The remaining auditory pattern was <dis>moderate bilateral conductive hearing loss</dis>.
Four patients showed secondary obstructive sleep apnoea/hypopnoea syndrome (OSAHS) due to Waldeyer ring hyperplasia; surgery could not be performed on one of them because of cervical spinal cord compression from mucopolysaccharide deposits.
In 2 cases, there was OSAHS relapse.
Conclusions
Children with MPS are at increased risk for developing <dis>sensorineural hearing loss</dis>.
The OSAHS syndrome appears in greater proportion than in the general child population, and recurrences may occur more frequently after surgery.
Such children can also be risk patients in airway management.
Abstract
 Introduction
Mucopolysaccharidoses (MPS) are a group of systemic diseases characterised by a genetic deficiency of lysosomal enzymes that cause the accumulation of glycosaminoglycans in different tissues.
The onset of symptoms usually occurs in early childhood, causing problems of otitis media, hearing loss and airway obstruction in the ENT area.
Objective
Describing the audiological findings and airway pathology found in 9 children diagnosed as having MPS.
Methods
A retrospective review was performed of the clinical and audiological findings, exploratory results and therapeutic ENT procedures for 9 children diagnosed with MPS in an ENT service at a tertiary paediatric public centre in the period 2007–2010.
Results
Subtypes found were 4 MPS type I, 2 moderate MPS type II, 1 severe MPS type II, 1 MPS type IV and 1 MPS type VI.
All patients presented chronic middle ear effusions.
A child developed mild bilateral sensorineural hearing loss; another case was diagnosed as mixed hearing loss.
The remaining auditory pattern was moderate bilateral conductive hearing loss.
Four patients showed secondary obstructive sleep apnoea/hypopnoea syndrome (OSAHS) due to Waldeyer ring hyperplasia; surgery could not be performed on one of them because of cervical spinal cord compression from mucopolysaccharide deposits.
In 2 cases, there was OSAHS relapse.
Conclusions
Children with MPS are at increased risk for developing sensorineural hearing loss.
The OSAHS syndrome appears in greater proportion than in the general child population, and recurrences may occur more frequently after surgery.
Such children can also be risk patients in airway management.
Abstract
 Introduction
Mucopolysaccharidoses (MPS) are a group of systemic diseases characterised by a genetic deficiency of lysosomal enzymes that cause the accumulation of glycosaminoglycans in different tissues. The onset of symptoms usually occurs in early childhood, causing problems of otitis media, <dis>hearing loss</dis> and airway obstruction in the ENT area.
hearing loss
DISABILITY