Alström 症候群の難聴に関する考察

抄録

The Alström syndrome is a rare hereditary disease presumably due to an autosomal recessive gene. It is charactreized by sensorineural haring loss, obesity, diabetes mellitus and retinitis pigmentosa. This report describes the hearing impairment in three siblings with this syndrome. An autosomal recessive gene was presumed because there are two consanguineous marriages in the pedigree. All three showed severe sensorinneural hearing loss. The ABR, which was examined in case 1 and case 2, suggested the possibility of cochlear dysfunction. The vestibular function and X-ray findings were normal. Obesity, diabetes mellitus, retinitis pigmentosa and renal dysfunction were present in all three siblings.