Please use this identifier to cite or link to this item:
http://dspace.sctimst.ac.in/jspui/handle/123456789/690
Title: | Late-onset Boucher-Neuhauser Syndrome (late BNS) associated with white-matter changes: a report of two cases and review of literature |
Authors: | Kate, Mahesh Pundlik Kesavadas, Chandrasekharan Nair, Muralidharan Krishnan, Syam Soman, Manoj Singh, Atampreet |
Keywords: | Neurology |
Issue Date: | 2011 |
Publisher: | JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY |
Citation: | JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 82; 8; 888-891 |
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. |
URI: | http://dx.doi.org/10.1136/jnnp.2009.196790 http://dspace.sctimst.ac.in/jspui/handle/123456789/690 |
Appears in Collections: | Journal Articles |
Files in This Item:
There are no files associated with this item.
Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.