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Arq Neuropsiquiatr. 2007 Mar;65(1):32-5.

A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance.

Author information

1
Neurology Service, Department of Internal Medicine, Medical School, Federal University of Minas Gerais, Belo Horizonte, MG, Brazil.

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.

PMID:
17420823
[Indexed for MEDLINE]
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