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Author Kate, M. P. ♦ Kesavadas, C. ♦ Nair, Muraleedharan ♦ Krishnan, Syam ♦ Soman, Manoj ♦ Singh, A.
Source Sree Chitra Tirunal Institute for Medical Sciences & Technology
Content type Text
Publisher Journal of Neurology Neurosurgery and Psychiatry
File Format PDF
Language English
Subject Domain (in DDC) Technology ♦ Medicine & health ♦ Diseases
Subject Domain (in MeSH) Nervous System Diseases ♦ Diseases
Subject Keyword Neurology
Abstract Boucher-Neuhauser 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.
Education Level UG and PG
Learning Resource Type Article
Educational Framework Medical Council of India (MCI)
Journal JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
Volume Number 82
Issue Number 8
Page Count 4
Starting Page 888
Ending Page 891