Sensorineural Hearing Loss Associated with Byler Disease

Progressive familial intrahepatic cholestasis, sometimes described as Byler disease, is a lethal liver disease and its inheritance is autosomal recessive. There is a previous report on the occasional association between this disease and sensorineural hearing loss without any audiological findings. W...

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Bibliographic Details
Published inThe Tohoku Journal of Experimental Medicine Vol. 187; no. 1; pp. 83 - 88
Main Authors Oshima, Takeshi, Ikeda, Katsuhisa, Takasaka, Tomonori
Format Journal Article
LanguageEnglish
Published Japan Tohoku University Medical Press 1999
Subjects
Adolescent
Adult
audiology
Byler disease
Child
Cholestasis, Intrahepatic - complications
Female
Hearing Loss, Sensorineural - etiology
Hearing Loss, Sensorineural - genetics
Hearing Loss, Sensorineural - physiopathology
hereditary
Humans
Male
Pedigree
sensorineural hearing loss
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Summary:Progressive familial intrahepatic cholestasis, sometimes described as Byler disease, is a lethal liver disease and its inheritance is autosomal recessive. There is a previous report on the occasional association between this disease and sensorineural hearing loss without any audiological findings. We report here two siblings, an 18-year-old female and a 16-year-old male, suffering from Byler disease and hearing loss. Pure tone, Bekesy and speech audiometries and auditory brain stem response examination were performed. Audiometric data showed hearing characteristics of cochlear origin, high-frequency loss and progressiveness. This sensorineural hearing loss possibly results from a genetic mutation. The mechanism of cochlear disorder in patients with Byler disease is unknown, however, a novel gene responsible for deafness might be found to be related to Byler disease.
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ISSN:0040-8727
1349-3329
DOI:10.1620/tjem.187.83