A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance.
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.
Malheiros
José Augusto
JA
Neurology Service, Department of Internal Medicine, Medical School, Federal University of Minas Gerais, Belo Horizonte, MG, Brazil.
Camargos
Sarah Teixeira
ST
Oliveira
José Teotonio de
JT
Cardoso
Francisco E C
FE
D000293:Adolescent; D001284:Atrophy; D010244:Bulbar Palsy, Progressive / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D040582:Inheritance Patterns / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008875:Middle Aged; D010375:Pedigree; D013577:Syndrome