Hunter Syndrome Diagnosed by Otorhinolaryngologist

Abstract EN

Hunter syndrome is a lysosomal disease characterized by deficiency of the lysosomal enzyme iduronate-2-sulfatase (I2S).

It has an estimated incidence of approximately 1 in 1,62,000 live male births.

We report a case of Hunter syndrome diagnosed by an otorhinolaryngologist.

To our knowledge, this is the first study diagnosed by an otorhinolaryngologist despite the fact that otorhinolaryngological symptoms manifest at a young age in this disease.

The patient was a 4-year-old boy.

He underwent adenotonsillectomy.

Intubation was difficult, and he had some symptoms which are reasonable as a mucopolysaccharidosis.

The otorhinolaryngologist should play an integral role in the multidisciplinary approach to the diagnosis and management of many children with MPS (mucopolysaccharidoses) disorders.