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.
- cerebellar ataxia
- eye changes
- white-matter changes
- cerebellar degeneration
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Competing interests None.
Patient consent Obtained.
Contributor Each of the authors have significantly involved in the case management and manuscript preparation.
Provenance and peer review Not commissioned; externally peer reviewed.
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