title: Late-onset Boucher-Neuhäuser Syndrome (late BNS) associated with white-matter changes: a report of two cases and review of literature.
abstract: 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&emsp14;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.
authors.affiliation: Department of Neurology, Sree Chitra Tirunal Institute For Medical Sciences And Technology, Trivandrum, Kerala 695011, India. dratam@gmail.com
authors.forename: Mahesh Pundlik
authors.initials: MP
authors.lastname: Kate
authors.forename: Chandrasekharan
authors.initials: C
authors.lastname: Kesavadas
authors.forename: Muralidharan
authors.initials: M
authors.lastname: Nair
authors.forename: Syam
authors.initials: S
authors.lastname: Krishnan
authors.forename: Manoj
authors.initials: M
authors.lastname: Soman
authors.forename: Atampreet
authors.initials: A
authors.lastname: Singh
mesh_terms: D017668:Age of Onset; D000568:Amenorrhea / Q000175:diagnosis* / Q000235:genetics; D001284:Atrophy; D002524:Cerebellar Ataxia / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D002531:Cerebellum / Q000473:pathology*; D015785:Eye Diseases, Hereditary / Q000235:genetics; D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000235:genetics; D008607:Intellectual Disability / Q000175:diagnosis* / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D013577:Syndrome; D055815:Young Adult