Mucopolysaccharidoses (MPSs) are a group of rare diseases characterized by the deficiency of lysosomal enzymes leading to the accumulation of glycosaminoglycans in organs and tissues. They are chronic, degenerative and debilitating, with significant generalized systemic compromises. They can be classified into seven types according to the deficient enzyme, each category having its own clinical, genetic and biochemical evidence. Its main otorhinolaryngological manifestations include respiratory anomalies, sleep and speech disorders, repetitive upper respiratory tract infections (IVAS), macroglossia, hypoacusis, tonsil hypertrophy, oral breathing, among others. The current monograph is a clinical and epidemiological, observational and cross-sectional study that aims to describe the otorhinolaryngological manifestations present in patients with MPSs attended at a referral hospital in Otorhinolaryngology in the North of Brazil between June and December 2016. In the data collection, a research protocol elaborated by the authors was used, which was applied in 10 patients followed at the referred hospital. A predominance of males was observed, with a mean age of 14.6 years, being the natural majority of other Brazilian states and having incomplete primary education as a schooling degree. Seven (70%) patients had at least one family member also with the syndrome, however, only one individual studied was son of consanguineous parents. In the otorhinolaryngological evaluation, the most frequent findings were: syndromic facies for signs, hearing loss for symptoms, presence of nasal polyp and otalgia were, respectively, the sign and symptom of lower significance. Analyzing the MPS types individually, the otorhinolaryngological findings observed in all of them were syndromic facies, tonsil hypertrophy, hearing loss, recurrent upper airway infections and sleep disorders; the MPS-II was the type with the largest number of patients in the study and with more otorhinolaryngological manifestations. It is concluded that otorhinolaryngological clinic is widely observed in patients with MPSs, often being the first sign of the disease, so it’s clear the importance of the otorhinolaryngologist, especially the one who takes care of the pediatric age group, since these patients are referred frequently for these conditions, it is up to the professional to relate such affections to other signs and symptoms of MPSs and to perform an early diagnosis of the syndrome and positively interfere with their prognosis.
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