Hunter症候群 (酸性ムコ多糖症II) の側頭骨病理所見

抄録

The histopathological changes in the temporal bones from 8-year-old boy with Hunter's syndrome (mucopolysaccharidosis II) are reported. The patient had been diagnosed as Hunter's syndrome by characteristic clinical symptoms and increasing excretion of mucopolysaccharides in the urine. He visited the Otolaryngology Department of Kobe University Hospital with complaints of hearing loss, nasal obstruction and delayed speech development. The adenotomy was performed when he was 6 years old and it improved the hearing level from mixed deafness with an average of 90 dB to an almost sensorineural deafness with an average of 50 dB. The histopathological findings of the temporal bones included chronic otitis media, chronic salpingitis, residual mesenchyme in the epitympanum where the incudomalleolar joint was completely embedded in tissue. The organ of Corti was depressed and changed into undifferentiated cells, however, other part of the labyrinth appeared to be normal. The connective tissues in the external auditory canal and middle ear were stained strongly positive with Alcian Blue staining and negative with PAS staining. This fact suggests that mucopolysaccharides have accumulated in the temporal bone as well as in other part of the body.