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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
  1. Mahesh Pundlik Kate1,
  2. Chandrasekharan Kesavadas2,
  3. Muralidharan Nair1,
  4. Syam Krishnan1,
  5. Manoj Soman3,
  6. Atampreet Singh1
  1. 1Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India
  2. 2Department of Imaging Sciences & Interventional Radiology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Trivandrum, Kerala, India
  3. 3Department of Ophthalmology, Chaithanya Eye Hospital, Trivandrum, Kerala, India
  1. Correspondence to Dr Atampreet Singh, Department of Neurology, Sree Chitra Tirunal Institute For Medical Sciences And Technology, Trivandrum, Kerala 695011, India; dratam{at}gmail.com

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.

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

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Footnotes

  • Competing interests None.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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