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