RESUMOIntrodução: Mucopolissacaridose (MPS) é um conjunto de doenças raras causadas pela deficiência de enzimas lisossômicas levando ao acúmulo de glicosaminoglanos (GAG) em órgãos e tecidos, responsáveis pelo quadro clínico multissistêmico, crônico e progressivo. Objetivo: Descrever o perfil do exame clínico otorrinolaringológico de pacientes acompanhados no submetidos à Terapia de Reposição Enzimática (TRE) e propor um algoritmo de acompanhamento otorrinolaringológico para estes pacientes. Método: Realizado estudo de série de casos incluindo 21 pacientes com MPS I, II e VI. Resultados: As queixas otorrinolaringológicas mais frequentes foram obstrução nasal, roncos, respiração bucal. A presença de apneia foi relatada em 31% dos casos. No exame físico a macroglossia foi a principal alteração (41%) da orofaringoscopia. Na otoscopia, a retração da membrana timpânica esteve presente em 33% e a queixa de hipoacusia esteve presente em 45%. Conclusão: É importante avaliar as queixas, exame físico e o impacto das alterações associadas à respiração e audição produzidas pela MPS visando um melhor acompanhamento destes pacientes e a prevenção das alterações crônicas resultantes como a perda auditiva, distúrbios do sono e respiração bucal, promovendo assim uma melhor qualidade de vida destes pacientes.

Introduction Undeflatable Foley catheter balloons adapted for use as nasal packing in epistaxis represent a possible complication. Case Reports We report on three cases in which Foley catheter balloons adapted for use as posterior nasal packing in epistaxis failed to deflate. In one patient, deflation was achieved by simply using the fingertips to massage the segment of the catheter collapsed by the fixation device. In the second case, the Foley balloon was removed by the oral route after sectioning the catheter. In the third patient, the Foley catheter was successfully deflated after sectioning. Discussion The probable causes of the undeflatable balloons in these cases were a blockage or lumen collapse of the balloon or a malfunction in the valve system. Although no definitive method has been established for dealing with this complication, the options proposed are the following: manipulation to restore the permeability of the segment of the catheter collapsed by the fixation device, if this is the case; sectioning the catheter or inserting a stiletto catheter; bursting the balloon; or removing it by the oral route. The latter option is apparently the most appropriate for the otolaryngologist in cases unrelated to simple collapse caused by the fixation device.

Introduction Mucopolysaccharidosis (MPS) is a set of rare diseases caused by deficiency of lysosomal enzymes that lead to the accumulation of glycosaminoglycans (GAG) in tissues and organs, which, in turn, is responsible for the multisystemic clinical, chronic, and progressive symptoms. Objective To describe the profile of the otorhinolaryngological clinical examination and audiology tests of patients with MPS disease. Methods The present study is a case series. The evaluation was performed, initially, in 24 patients with MPS types I, II, IIIA, IV and VI. Results The most common hearing complaint was hearing loss, which was confirmed by audiology tests in almost 100% of the patients, most of whom presented conductive hearing loss. Conclusions It is important to evaluate the complaints, physical examination, and audiology tests in patients with MPS. The otorhinolaryngologistshould be part of the group of professionals that follows these patients to better monitor their hearing and provide early hearing rehabilitation.