Late-onset Boucher-Neuhäuser Syndrome (late BNS) associated with white-matter changes: a report of two cases and review of literature.
J Neurol Neurosurg Psychiatry
; 82(8): 888-91, 2011 Aug.
Article
em En
| MEDLINE
| ID: mdl-20587490
ABSTRACT
Boucher-Neuhäuser syndrome (BNS) is rare autosomal recessive disease, characterised by cerebellar ataxia, hypogonadotropic hypogonadism and chorio-retinal degeneration. The authors report a family (brother, 22 years and sister 24 years) with late-onset BNS (>10 years). They had subnormal intelligence; the cerebellar ataxia was progressive over 2 years with early functional dependence. Puberty was attained in a brother with testosterone injections, while the girl had primary amenorrhoea. There were no associated visual complaints. They both had diffuse periventricular white-matter hyperintensities in cerebral cortex and diffuse cerebellar atrophy in the MRI.
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Imageamento por Ressonância Magnética
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Ataxia Cerebelar
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Cerebelo
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Amenorreia
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Deficiência Intelectual
Tipo de estudo:
Risk_factors_studies
Limite:
Adult
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Female
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Humans
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Male
Idioma:
En
Revista:
J Neurol Neurosurg Psychiatry
Ano de publicação:
2011
Tipo de documento:
Article
País de afiliação:
Índia