Mucopolysaccharidoses & Alpha-mannosidosis: ENT & Anaesthesiology

Prof. Akyol opens by explaining that children with MPS often present early with ENT issues such as recurrent otitis media, sleep apnea, hearing loss, and airway obstruction due to glycosaminoglycan (GAG) accumulation in the head and neck area. These manifestations frequently necessitate ENT surgeries such as adenoidectomy or tonsillectomy. However, he warns that these procedures are complicated by anatomical and physiological abnormalities that increase perioperative risks. He stresses the importance of early recognition, highlighting that ENT specialists may be among the first to encounter MPS patients due to these common early symptoms.

A compelling case study of a delayed adenotonsillectomy in a severely affected child illustrates the danger of waiting too long to operate. The patient, unable to breathe or sleep, underwent emergency surgery that ended tragically. This case emphasizes the need for early surgical intervention, before irreversible morphological changes occur, and in properly equipped centers with multidisciplinary teams.

Dr. Schafer’s presentation shifts to the anesthetic challenges in MPS and alpha-mannosidosis. He outlines the difficulties posed by airway abnormalities, such as macroglossia, thickened epiglottis, tracheal narrowing, and limited neck mobility. These factors contribute to a high rate of difficult intubation and increased anesthesia-related morbidity. He highlights the importance of detailed preoperative planning, including airway imaging and interdisciplinary collaboration.

Schafer underscores the need for maintaining spontaneous ventilation during induction, preferring awake fiber-optic intubation or cautious use of inhalational anesthesia. He advises against spinal or epidural anesthesia due to the risk of neurological complications stemming from spinal abnormalities and GAG infiltration. The session concludes with practical recommendations for extubation strategies, postoperative monitoring, and the limited role of tracheostomy, which poses substantial challenges in MPS patients.

Both speakers stress that timing and teamwork are paramount. ENT procedures, though often minor, carry major risks in this population and must be approached proactively and collaboratively. Their message is clear: early diagnosis, careful planning, and specialized care environments are vital to ensuring safer outcomes in children with MPS and related disorders.

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