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|dc.contributor||Kate, Mahesh Pundlik||-|
|dc.identifier.citation||JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. 82; 8; 888-891||en_US|
|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.title||Late-onset Boucher-Neuhauser Syndrome (late BNS) associated with white-matter changes: a report of two cases and review of literature||-|
|Appears in Collections:||Journal Articles|
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