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ENT Manifestations Of The Mucopolysaccharidoses (MPS)

A case-based webinar with Dr Anna-Sophie Hoffmann (senior ENT specialist, University Hospital Hamburg, Germany) on the otorhinolaryngological manifestations of the mucopolysaccharidoses (MPS) — the ear, nose and throat problems that are often the first signs, and how timely surgery and hearing support protect long-term hearing. For ENT surgeons, paediatricians and metabolic teams.

Recorded on:

November 18, 2020

30 minutes

English

MPSS3M3

This webinar is intended for healthcare professionals only. The views and opinions expressed are those of the presenting experts and are their own; their inclusion on the Excellence in Pediatrics (EiP) website does not imply that EiP endorses, agrees or disagrees with them. Any patient images, clinical photographs or case details shown are the responsibility of the presenting experts, who confirm that the necessary consent and approvals were obtained — their inclusion in the presentation indicates that such approval is in place. This webinar was supported by an unrestricted educational grant from Sanofi, which had no influence over its content. The content is provided for educational purposes only and does not constitute medical advice or replace independent clinical judgement.

Summary

ENT problems are among the earliest and most common features of MPS, and children often reach an ENT doctor — for a middle-ear effusion — before MPS is diagnosed. Dr Hoffmann works through the ear, nose and throat in turn. In the ear, narrowed external canals cause chronic otitis externa, and adenoidal obstruction of the Eustachian tube causes persistent middle-ear effusion with conductive hearing loss; ventilation tubes should be placed early (starting with short-term titanium tubes, later T-tubes), but because many children also have sensorineural hearing loss, hearing aids should not be delayed. In the nose, inferior-turbinate hypertrophy and recurrent sinus infections cause obstruction, managed with adenoidectomy and turbinate reduction. In the throat, macroglossia, gingival hypertrophy and tonsillar hypertrophy cause obstructive sleep apnoea and make intubation difficult — so surgery belongs in a specialised centre with experienced anaesthetists. Three cases illustrate the long ENT course. A boy with MPS I had repeated ventilation tubes and, after a cholesteatoma, staged tympanoplasty and finally a partial ossicular replacement prosthesis, recovering useful hearing with aids. A boy with MPS IIIC needed repeated adenotonsillar surgery and hearing aids for a sensorineural loss. A girl with MPS I, operated on repeatedly from infancy, stabilised with sustained follow-up and functions well. Dr Hoffmann closes on her research into smell and taste in children with MPS and on ERT, and her recommendations: ENT follow-up at a specialised centre, routine hearing evaluation, early hearing aids, and cautious surgical planning.

Learning Objectives

After viewing this webinar, participants will be able to:

Recognise that ENT symptoms — chronic otitis externa, middle-ear effusion, conductive hearing loss — are often the earliest signs of MPS.
Place ventilation tubes early for middle-ear effusion, and do not delay hearing aids because sensorineural loss often coexists.
Manage nasal obstruction (inferior-turbinate hypertrophy, sinus infection, adenoids) with adenoidectomy and turbinate reduction.
Anticipate difficult intubation from macroglossia and tonsillar hypertrophy, and operate in specialised centres with experienced anaesthetists.
Plan long-term, individualised ENT follow-up, including for complications such as cholesteatoma.

Expert Panel

No items found.

Questions & Answers

Key questions

Why do MPS children get so many ear infections and hearing problems?

Because GAG accumulation narrows the external ear canals (causing chronic otitis externa) and enlarged adenoids obstruct the Eustachian tube, so the middle ear cannot ventilate and a persistent effusion builds up, giving a conductive hearing loss. Ventilation tubes improve drainage and hearing, but the effusion tends to recur as the adenoids regrow. Crucially, many MPS children also have a sensorineural loss, so tubes alone do not fully restore hearing.

When should hearing aids be considered?

Early — clinicians should not delay them. Optimising middle-ear ventilation with tubes helps, and children often make a jump in hearing and speech afterwards, but because many also have a sensorineural component, tubes do not fully normalise hearing. So as soon as testing shows the loss is not purely conductive, hearing aids should be fitted, because good hearing matters for the child's speech and development. This is a message Dr Hoffmann directs at paediatricians as well as ENT doctors.

Should tonsils be removed in MPS children, and at what age?

Dr Hoffmann prefers tonsillotomy (partial reduction) over full tonsillectomy, which needs a strict indication; tonsillotomy can be done from about one or two years of age. Often removing the adenoids helps first, but if the tonsils are touching (obstructing), a tonsillotomy improves the airway, speech and swallowing. Both adenoids and tonsils tend to regrow, so repeat procedures are common. Because these children are difficult to intubate, the surgery should be done in a specialised centre.

Where should MPS children with ENT problems be treated?

They can see their local ENT doctor for routine follow-up, but diagnosis, surgery and decisions about indications belong in a hospital specialised in MPS, where the anaesthetic risks (difficult airway from macroglossia, tonsillar hypertrophy and mucosal thickening) are understood and managed. In Dr Hoffmann's centre, patients travel from across Germany for this specialised care and often have their surgery there, with yearly follow-up shared with the local ENT doctor.