A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance.
Arq Neuropsiquiatr
; 65(1): 32-5, 2007 Mar.
Article
in En
| MEDLINE
| ID: mdl-17420823
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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Bulbar Palsy, Progressive
/
Inheritance Patterns
/
Hearing Loss, Sensorineural
Type of study:
Diagnostic_studies
Limits:
Adolescent
/
Female
/
Humans
/
Middle aged
Country/Region as subject:
America do sul
/
Brasil
Language:
En
Journal:
Arq Neuropsiquiatr
Year:
2007
Document type:
Article
Affiliation country:
Brazil