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

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