INTRODUCTION:
Mucopolysaccharidosis (MPS) is a group of
rare diseases caused by the deficit of lysosomal
enzymes, causing an accumulation of
glycosaminoglycans (GAG) in organs and
tissues responsible for the multi-systemic clinical, chronic and progressive status.
OBJECTIVE:
Describe the profile of the otorhinolaryngologic clinical evaluation in
patients submitted to
Enzyme Replacement Therapy (ERT) and suggest an
algorithm to otorhinolaryngolgically follow up with these
patients.
METHOD:
A study with a number of cases was performed, including 21
patients having MPS I, II and VI.
RESULTS:
The most common otorhinolaryngological complaints were
nasal obstruction, snore, and
mouth-
breathing.
Apnea was reported in 31 percent of the cases. In the
physical examination,
macroglossia was the main alteration (41 percent) of oral pharyngoscopy. At
otoscopy, the retraction of the
tympanic membrane was found in 33 percent and
hearing loss was found in 45 percent.
CONCLUSION:
It is important to evaluate the complaints,
physical examination and the impact of alterations associated with MPS-produced
breathing and
hearing, for purposes of better following up with these
patients and preventing consequential chronic alterations such as
hearing loss,
sleep disorder, and
mouth breathing, thus, enhancing these
patients'
quality of life.