Familial Alström syndrome: a rare cause of bilateral progressive hearing loss ,

Resumo Introdução A Síndrome de Alstrom é uma doenca muito rara, causada pela mutação no gene ALMS1, que apresenta uma degeneração progressiva das funções sensoriais, resultando em deficiências visuais e auditivas, além de distúrbios metabólicos como obesidade na infância, hiperinsulinemia e diabetes tipo II. Objetivo Apresentar o perfil audiométrico de dois irmãos da mesma família afetados pela Síndrome de Alström. Método Estudo prospectivo, analítico descritivo, os pacientes afetados foram submetidos a um questionário previamente testado, audiometria tonal e vocal seriadas, análise de emissões otoacústicas, e de respostas de potencial evocado auditivo de tronco encefálico, além de análise genético-molecular para comprovação diagnóstica. Resultados Ambos os pacientes apresentaram perda auditiva bilateral com o início na infância e progressão lenta para perda auditiva neurosensorial severa no primeiro caso e, profunda, no segundo. As emissões otoacústicas estavam ausentes, e o potencial evocado auditivo de tronco encefálico estava normal em ambos os pacientes, bilateralmente. Conclusão A Síndrome de Alström apresenta início precoce de perda auditiva neurossensorial, antes da adolescência, 10 a 20 anos para desenvolver perda auditiva severa a profunda. A lesão auditiva é essencialmente coclear, de acordo com os resultados dos testes de emissões otoacústicas e de potenciais evocados auditivos de tronco encefálico. © 2014 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Publicado por Elsevier Editora Ltda. Todos os direitos reservados.

• Publication year

  2014

• Venue

  Brazilian Journal of Otorhinolaryngology

• Publication date

  2014-03-01

• Fields of study

  Not labeled

• Identifiers
  DOI 10.5935/1808-8694.20140023PMID 24830966PMCID 9443977
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Spectrum of ALMS1 variants and evaluation of genotype‐phenotype correlations in Alström syndrome

  2007cited by this paper
• Alström Syndrome: Progressive Deafness and Blindness

  2007cited by this paper
• New Alström syndrome phenotypes based on the evaluation of 182 cases.

  2005cited by this paper
• Alms1-disrupted mice recapitulate human Alström syndrome.

  2005cited by this paper
• Mutations in ALMS1 cause obesity, type 2 diabetes and neurosensory degeneration in Alström syndrome

  2002cited by this paper
• Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome

  2002cited by this paper
• Cracking the auditory genetic code: part II. Syndromic hereditary hearing impairment.

  2000cited by this paper
• The ten-twenty electrode system of the International Federation. The International Federation of Clinical Neurophysiology.

  1999cited by this paper
• Alström syndrome: Report of 22 cases and literature review

  1998cited by this paper
• Clinical Applications of the Auditory Brainstem Response

  1998cited by this paper
• Natural history of Alström syndrome in early childhood: onset with dilated cardiomyopathy.

  1996cited by this paper
• The use of cumulative distributions to determine critical values and levels of confidence for clinical distortion product otoacoustic emission measurements.

  1996cited by this paper
• Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic examination based on a large pedigree.

  1959cited by this paper

• New variants of ALMS1 gene and familial Alström syndrome case series

  2024cites this paper
• Genotype–phenotype associations in Alström syndrome: a systematic review and meta-analysis

  2023cites this paper
• Cochlear implant in Kearns-Sayre syndrome: A case study of twin sisters

  2020cites this paper
• Cochlear Implants in Alström Syndrome

  2020cites this paper
• Consensus clinical management guidelines for Alström syndrome

  2020cites this paper
• alms1 mutant zebrafish do not show hair cell phenotypes seen in other cilia mutants

  2020cites this paper
• Auditory Profile of Children With Some Rare Neurodevelopmental Disorders

  2019cites this paper
• Basics of Disorders of Hearing Development

  2019cites this paper
• Auditory and otologic profile of Alström syndrome: Comprehensive single center data on 38 patients

  2017cites this paper
• Implante coclear na síndrome Kearns-Sayre: estudo de caso de irmãs gêmeas

  2017cites this paper
• Síndrome de Bardet- Biedl

  2016cites this paper
• Long-term clinical follow-up and molecular testing for diagnosis of the first Tunisian family with Alström syndrome.

  2016cites this paper
• Histopathology of the Human Inner Ear in Alström's Syndrome

  2015cites this paper