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In this insightful and experience-driven webinar, Prof. Mehmet Umut Akyol, a pediatric ENT specialist from Hacettepe University, Turkey, discusses the critical role of otorhinolaryngologists in the early diagnosis and management of mucopolysaccharidoses (MPS). With over a decade of experience, he shares clinical signs, treatment approaches, and surgical considerations from his practice.
Prof. Akyol begins by explaining that MPS is a lysosomal storage disorder in which glycosaminoglycans (GAGs) accumulate in tissues throughout the body, particularly in the head and neck. This results in a variety of ENT-related symptoms, including recurrent otitis media, hearing loss, adenoid and tonsillar hypertrophy, nasal obstruction, and sleep-disordered breathing. He highlights that over half of his MPS patients undergo ENT surgery, and nearly two-thirds have hearing loss—often mixed or sensorineural.
A key message is that ENT specialists are frequently among the first to see MPS patients, often before a diagnosis is made. Children may present with common issues—frequent ear infections, nasal obstruction, or sleep apnea—but subtle signs such as coarse facial features, macroglossia, and hernia history may point to an underlying metabolic disorder.
Prof. Akyol emphasizes the importance of early recognition, warning that once morphological changes progress, airway management becomes extremely risky. He illustrates this with a tragic case of a child with advanced MPS who died following a delayed adenoidectomy due to complications during anesthesia and postoperative care. This underscores the need for early surgery before irreversible airway narrowing occurs.
He discusses diagnostic findings, including narrow nasal passages, enlarged turbinates, and submucosal GAG deposits visible through flexible endoscopy. He advocates for regular endoscopic evaluation of the airway and prompt ENT referrals for children with suggestive symptoms. Hearing loss should be addressed early with ventilation tubes or hearing aids, and ENT surgeries must be performed in well-equipped centers with multidisciplinary teams and experienced anesthesiologists.
Prof. Akyol concludes with practical advice: operate early if indicated, do not delay surgical care in high-risk patients, and always involve a multidisciplinary team—including ICU and metabolic disease specialists. ENT surgeons are uniquely positioned to spot MPS early and can play a decisive role in improving outcomes by recognizing warning signs and referring for appropriate metabolic testing and care.