Familial Alström syndrome: a rare cause of bilateral progressive hearing loss.
Alström Syndrome is a rare disease caused by mutations in ALMS1 gene. It is characterized by a progressive degeneration of sensory functions, resulting in visual and audiological impairment, as well as metabolic disturbances such as childhood obesity, hyperinsulinemia, and diabetes mellitus type 2.



To report and discuss the genetic and audiological findings in two siblings with Alström syndrome.



This was a prospective, analytical and descriptive study, using questionnaires, serial audiograms, otoacoustic emissions, and auditory brainstem response analysis, as well as molecular genetic analysis.



Both patients presented childhood-onset bilateral sensorineural hearing loss, which progressed to moderate impairment in the first case and severe hearing loss in the second. Otoacoustic emissions were absent, and auditory brainstem responses were bilaterally normal in both cases.



In the present patients, Alström Syndrome began with a neurosensory hearing loss in early childhood that progressed to a profound loss in ten to twenty years. The auditory lesions were cochlear in origen according to the otoacoustic emissions and auditory brainstem responses.
Faculdade de Medicina, Universidade de Brasília, Brasília, DF, Brasil.
Fayez
F
Bahmad
Instituto Brasiliense de Otorrinolaringologia, Brasília, DF, Brasil.
Carolina Sousa Alves
CS
Costa
Programa de Pós-graduação, Faculdade de Ciências da Saúde, Universidade de Brasília, Brasília, DF, Brasil.
Marina Santos
MS
Teixeira
Programa de Pós-graduação, Faculdade de Ciências da Saúde, Universidade de Brasília, Brasília, DF, Brasil.
Jairo de
Jd
Barros Filho
Programa de Pós-graduação, Faculdade de Ciências da Saúde, Universidade de Brasília, Brasília, DF, Brasil.
Lucas Moura
LM
Viana
The Jackson Laboratory, Maine, USA.
Jan
J
Marshall
D000158:Acoustic Impedance Tests; D000328:Adult; D056769:Alstrom Syndrome / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D001301:Audiometry, Pure-Tone; D016057:Evoked Potentials, Auditory, Brain Stem / Q000502:physiology*; D006312:Hearing Loss, Bilateral / Q000209:etiology* / Q000503:physiopathology; D006319:Hearing Loss, Sensorineural / Q000209:etiology* / Q000503:physiopathology; D006801:Humans; D008297:Male; D017084:Otoacoustic Emissions, Spontaneous / Q000502:physiology*; D010375:Pedigree; D011446:Prospective Studies