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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 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.

  • Hypogonadism
  • cerebellar ataxia
  • eye changes
  • white-matter changes
  • cerebellar degeneration
  • MRI
  • vision

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