Otolaryngological Manifestations in Mucopolysaccharidoses

Abstract

Objectives:

(1) Describe the most prevalent findings of anamnesis and physical otolaryngologic examination in patients with mucopolysaccharidoses (MPSs), which are a lysosomal storage disorder group caused by deficiency of enzymes involved in catabolism of glycosaminoglycans. (2) Evaluate the importance of a multidisciplinary approach for MPSs patients.

Methods:

A descriptive cross-sectional (prevalence) study performed in January 2014. Thirty-four MPSs patients followed at a tertiary teaching hospital were invited, from which 25 participated from the study, with agreement of their families. Questionnaires were answered by their parents and a physical examination was done. The analyzed variables were otologic, pharyngolaryngeal, and nasal and respiratory signs and symptoms.

Results:

Among the evaluated patients, 52% (13/25) were male and 48% (12/25) female. The average age was 12.44 years at examination and 5.14 years at MPS diagnosis. The most frequent subtype was MPS VI (12/25). Hearing complaints were present in 60% (15/25) of patients, snoring in 44% (11/25), with witnessed sleep breathing pauses in 24% (6/25). The number of pharyngotonsillitis and upper airway infections was 1.68 and 3.36 episodes in the past year, respectively. Important findings on physical examination were: hyperplastic gums (60%-15/25), modified Mallampati score IV (64%-16/25), tonsil size grade III (60%-16/25), flattened nasal pyramid (80%-20/25), and tympanic retraction (24%-6/25).

Conclusions:

There is a high prevalence of ear, nose, and throat manifestations that requires further investigation and possibly intervention, such as suspected respiratory sleep disturbances and hearing loss. There was a similar prevalence of respiratory tract infections as expected for age. Results support recommendation for multidisciplinary approach.