Late-onset Boucher-Neuhäuser Syndrome (late BNS) associated with white-matter changes: a report of two cases and review of literature.
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.
Kate
Mahesh Pundlik
MP
Department of Neurology, Sree Chitra Tirunal Institute For Medical Sciences And Technology, Trivandrum, Kerala 695011, India. dratam@gmail.com
Kesavadas
Chandrasekharan
C
Nair
Muralidharan
M
Krishnan
Syam
S
Soman
Manoj
M
Singh
Atampreet
A
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