| Late-onset Boucher-Neuhauser Syndrome (late BNS) associated with white-matter changes: a report of two cases and review of literature. | |
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MedLine Citation:
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PMID: 20587490 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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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. |
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Authors:
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Mahesh Pundlik Kate; Chandrasekharan Kesavadas; Muralidharan Nair; Syam Krishnan; Manoj Soman; Atampreet Singh |
Publication Detail:
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Type: Journal Article Date: 2010-06-28 |
Journal Detail:
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Title: Journal of neurology, neurosurgery, and psychiatry Volume: 82 ISSN: 1468-330X ISO Abbreviation: J. Neurol. Neurosurg. Psychiatr. Publication Date: 2011 Aug |
Date Detail:
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Created Date: 2011-07-11 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 2985191R Medline TA: J Neurol Neurosurg Psychiatry Country: England |
Other Details:
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Languages: eng Pagination: 888-91 Citation Subset: IM |
Affiliation:
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Department of Neurology, Sree Chitra Tirunal Institute For Medical Sciences And Technology, Trivandrum, Kerala 695011, India; dratam@gmail.com. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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