A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance
Arq. neuropsiquiatr
;
65(1): 32-35, mar. 2007. ilus, tab
Article
in English
| LILACS
| ID: lil-446676
ABSTRACT
We report the first Brazilian family with Brown-Vialetto-van Laere syndrome. The presence of consanguineous marriages and illness affecting three sisters and one niece support an autosomal recessive transmission. The age at onset of the illness ranged from 12 to 20 years old. The time interval between hearing loss and involvement of other cranial nerves varied from 3 to 12 years. MRI demonstrated bulbar atrophy and also high intensity signal at T2 weighted and fluid attenuated inversion recovery (FLAIR) sequences.
RESUMO
Descrevemos a primeira família brasileira com síndrome de Brown-Vialetto-van Laere. Os pacientes são três irmãs e uma sobrinha provenientes de casamentos consangüíneos, o que fortalece a hipótese de transmissão autossômica recessiva. A idade de aparecimento dos sintomas variou entre 12 e 20 anos. A latência entre a perda auditiva e o envolvimento de outros nervos cranianos variou de 3 a 12 anos. O estudo de imagem por ressonância magnética demonstrou atrofia bulbar além de alteração de sinal nas seqüências ponderadas em T2 e FLAIR (fluid attenuated inversion recovery).
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Bulbar Palsy, Progressive
/
Inheritance Patterns
/
Hearing Loss, Sensorineural
Type of study:
Diagnostic study
Limits:
Adolescent
/
Female
/
Humans
Country/Region as subject:
South America
/
Brazil
Language:
English
Journal:
Arq. neuropsiquiatr
Journal subject:
Neurology
/
Psychiatry
Year:
2007
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Federal University of Minas Gerais/BR
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