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In this highly instructive and case-based session, Dr. Anna Sophie Hoffmann, a senior ENT specialist from Hamburg, Germany, provides a comprehensive overview of the otorhinolaryngological (ENT) manifestations of mucopolysaccharidoses (MPS), supported by detailed clinical examples. The webinar covers ear, nose, and throat complications in MPS patients and emphasizes early intervention and specialized care to improve long-term outcomes.
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:
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.