Role of the pediatric otolaryngologist in diagnosis and management of children with mucopolysaccharidoses

Abstract

Objective: Mucopolysaacharidoses (MPS) represent a spectrum of disorders characterized by the genetic deficiency of specific lysosomal enzymes occurring in as many as 1 in 10,000 live births and resulting in the accumulation of glycosaminoglycans within cells throughout the body. Children have highly variable, multi-systemic involvement that nearly always involves manifestations of the head and neck including recurrent otitis, hearing loss, upper airway obstruction, and characteristic coarse facial features. This places the otolaryngologist in a prime position for early recognition and initiation of treatment. We sought to examine our own experience in dealing with this diverse and often quite devastating clinical entity.

Methods: Retrospective chart review of children with mucopolysaccharidoses seen in our tertiary care pediatric otolaryngology clinic accompanied by review of the literature.

Results: Nine children were identified--five with Hurler syndrome, three with Hunter syndrome, and one with Maroteaux-Lamy syndrome. The median age of diagnosis/genetics referral was 15 months, while median age of presentation to an otolaryngologist was 12 months. Three patients were referred for genetics evaluation based upon initial evaluation/suspicion by an otolaryngologist. Two were diagnosed early because of an affected older sibling. All patients in the series had varying degrees of hearing loss, recurrent otitis, chronic effusions or abnormal facial features, and all patients required placement of at least one set of ventilation tubes.

Conclusions: Otolaryngologists have an opportunity to play an increasingly integral role in the multidisciplinary approach to the diagnosis and management of many children with mucopolysaccharidoses. Clinical suspicion, early recognition, and prompt diagnosis of these challenging disorders is crucial, as outcomes of treatment in many cases appear time-sensitive, with better results being achieved when intervention is initiated at a younger age or prior to progression of the disease.