title: Familial systemic amyloidosis associated with bilateral sensorineural hearing loss and bilateral facial palsies.
abstract: The Finnish type of familial amyloid polyneuropathy due to variant gelsolin is a rare form of familial amyloidosis. The subtype was first described in 1969 and is characterized by progressive cranial neuropathies, corneal lattice dystrophy and distal sensorimotor dysfunction. It is extremely uncommon, with only two families known to be affected in the UK. We discuss the case of a 70-year-old woman who presented with bilateral facial nerve palsies, bilateral sensorineural hearing loss and Finnish type familial hereditary amyloidosis. A literature search of the Medline database (1966-2005) was performed, using the keywords 'amyloid', 'hearing loss' and 'facial palsy'; however, this association appears to be a novel finding. We review the current literature and discuss otorhinolaryngological presentations of amyloidosis.
authors.affiliation: Department of Otolaryngology, Guy's and St Thomas' Hospitals NHS Trust, London, UK. r_hornigold@yahoo.com
authors.forename: R
authors.initials: R
authors.lastname: Hornigold
authors.forename: A V
authors.initials: AV
authors.lastname: Patel
authors.forename: V M M
authors.initials: VM
authors.lastname: Ward
authors.forename: A F
authors.initials: AF
authors.lastname: O'Connor
mesh_terms: D000368:Aged; D028226:Amyloidosis, Familial / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D001301:Audiometry, Pure-Tone; D005158:Facial Paralysis / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D005260:Female; D018260:Gelsolin / Q000235:genetics; D006319:Hearing Loss, Sensorineural / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D009154:Mutation
chemical_list: D018260:Gelsolin