RT Journal Article
SR Electronic
T1 Late-onset Boucher–Neuhäuser Syndrome (late BNS) associated with white-matter changes: a report of two cases and review of literature
JF Journal of Neurology, Neurosurgery & Psychiatry
JO J Neurol Neurosurg Psychiatry
FD BMJ Publishing Group Ltd
SP 888
OP 891
DO 10.1136/jnnp.2009.196790
VO 82
IS 8
A1 Mahesh Pundlik Kate
A1 Chandrasekharan Kesavadas
A1 Muralidharan Nair
A1 Syam Krishnan
A1 Manoj Soman
A1 Atampreet Singh
YR 2011
UL http://jnnp.bmj.com/content/82/8/888.abstract
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.