PT  - JOURNAL ARTICLE
AU  - Kate, Mahesh Pundlik
AU  - Kesavadas, Chandrasekharan
AU  - Nair, Muralidharan
AU  - Krishnan, Syam
AU  - Soman, Manoj
AU  - Singh, Atampreet
TI  - Late-onset Boucher–Neuhäuser Syndrome (late BNS) associated with white-matter changes: a report of two cases and review of literature
AID  - 10.1136/jnnp.2009.196790
DP  - 2011 Aug 01
TA  - Journal of Neurology, Neurosurgery & Psychiatry
PG  - 888--891
VI  - 82
IP  - 8
4099  - http://jnnp.bmj.com/content/82/8/888.short
4100  - http://jnnp.bmj.com/content/82/8/888.full
SO  - J Neurol Neurosurg Psychiatry2011 Aug 01; 82
AB  - 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.