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.

Progressive cranial nerve involvement and grading of facial paralysis in gelsolin amyloidosis

“…1,12,[24][25][26] Reported neurological symptoms include bilateral progressive facial paralysis, impaired hearing, upper and lower limb paresthesiae, decrease in touch and vibration sensation, carpal tunnel syndrome, and ataxia and motor weakness with age. 11,25,27,28 Functional disturbances of the central nervous system may manifest as mild cognitive impairment. 29 Many patients show signs of mild renal or cardiac amyloidosis.…”

“…GA typically manifests after age 30, initially with ophthalmological symptoms . Reported neurological symptoms include bilateral progressive facial paralysis, impaired hearing, upper and lower limb paresthesiae, decrease in touch and vibration sensation, carpal tunnel syndrome, and ataxia and motor weakness with age . Functional disturbances of the central nervous system may manifest as mild cognitive impairment .…”

Inner Ear Involvement in Children with Familial Mediterranean Fever

“…Singh-Grewal et al presented two patients with FMF coexisting with MEFV and CIAS1 mutations and suffering from progressive SNHL [18] . Also, Hornigold et al [19] presented bilateral SNHL in a patient with familial systemic amyloidosis. All of these could be accepted as rare presentations.…”

Cochlear involvement in Familial Mediterranean Fever: A new feature of an old disease

“…Cochlea may be one of the organs that might possibly be affected by systemic amyloidosis. Hornigold et al [15] reported a case of 70 year old female patient with familial systemic amyloidosis and bilateral sensorineural hearing loss. Although still controversial, many Table 2 The type and number of mutations in the FMF patients.…”