ENT Manifestations Of The Mucopolysaccharidoses (MPS)

Dr. Hoffmann begins by explaining that ENT symptoms are often among the first to appear in MPS patients. Chronic otitis externa, middle ear effusions, and conductive hearing loss are early warning signs. Due to anatomical narrowing of auditory canals and Eustachian tube obstruction from enlarged adenoids, children frequently suffer persistent middle ear infections. She explains that ventilation tubes should be placed early to improve drainage and mitigate long-term hearing damage.

She stresses that many MPS children also have sensorineural hearing loss, not just conductive, making early hearing aids crucial. She discusses surgical interventions—starting with Titan tubes, and later T-tubes for longer-term use—and cautions that while tube placement helps, it doesn’t fully restore hearing.

Dr. Hoffmann also details nasal symptoms: inferior turbinate hypertrophy, nasal obstruction, and recurrent sinus infections. Adenoidectomy and turbinate reduction (via cautery or radiofrequency ablation) are common interventions. Oral cavity abnormalities, such as macroglossia, gingival hypertrophy, and tonsillar hypertrophy, contribute to obstructive sleep apnea and complicate intubation—necessitating surgery in specialized centers with experienced anesthesiologists.

The second half of the presentation presents three patient case studies:

1. A boy with MPS I underwent repeated ventilation tube placements, tympanoplasties, and ossicular reconstruction due to cholesteatoma. His hearing improved with prosthetic ossicle placement and hearing aids.
2. A boy with MPS IIIc required multiple ENT procedures for persistent hearing loss and breathing difficulties, managed with hearing aids and repeated adenotonsillar surgeries.
3. A girl with MPS I, multiple surgeries from early childhood, showed improvement only after sustained ENT follow-up and successful tube placement. Her hearing stabilized, and she now functions well with minimal support.

Dr. Hoffmann concludes by discussing her ongoing research into olfactory and taste function in children with MPS, especially those receiving enzyme replacement therapy (ERT). She recommends ENT follow-up at specialized centers, routine hearing evaluations, early use of hearing aids, and cautious surgical planning.

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