DSpace Repository

Late-onset Boucher-Neuhauser Syndrome (late BNS) associated with white-matter changes: a report of two cases and review of literature

Show simple item record

dc.contributor Kate, Mahesh Pundlik
dc.contributor Kesavadas, Chandrasekharan
dc.contributor Nair, Muralidharan
dc.contributor Krishnan, Syam
dc.contributor Soman, Manoj
dc.contributor Singh, Atampreet
dc.date.accessioned 2012-12-04T11:44:30Z
dc.date.available 2012-12-04T11:44:30Z
dc.date.issued 2011
dc.identifier.citation JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 82; 8; 888-891 en_US
dc.identifier.uri http://dx.doi.org/10.1136/jnnp.2009.196790
dc.identifier.uri http://dspace.sctimst.ac.in/jspui/handle/123456789/690
dc.description.abstract Boucher-Neuhauser 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.
dc.publisher JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
dc.subject Neurology
dc.title Late-onset Boucher-Neuhauser Syndrome (late BNS) associated with white-matter changes: a report of two cases and review of literature


Files in this item

Files Size Format View

There are no files associated with this item.

This item appears in the following Collection(s)

Show simple item record

Search DSpace


Advanced Search

Browse

My Account