Late-onset Boucher-Neuhäuser Syndrome (late BNS) associated with white-matter changes: a report of two cases and review of literature

J Neurol Neurosurg Psychiatry. 2011 Aug;82(8):888-91. doi: 10.1136/jnnp.2009.196790. Epub 2010 Jun 28.

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 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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Age of Onset
  • Amenorrhea / diagnosis*
  • Amenorrhea / genetics
  • Atrophy
  • Cerebellar Ataxia / diagnosis*
  • Cerebellar Ataxia / genetics
  • Cerebellar Ataxia / pathology
  • Cerebellum / pathology*
  • Eye Diseases, Hereditary / genetics
  • Female
  • Humans
  • Hypogonadism / genetics
  • Intellectual Disability / diagnosis*
  • Intellectual Disability / genetics
  • Magnetic Resonance Imaging*
  • Male
  • Syndrome
  • Young Adult