| An unusual demyelinating neuropathy in a patient with Waardenburg's syndrome. | |
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MedLine Citation:
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PMID: 1636383 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We present clinical and laboratory data from a patient with Waardenburg's syndrome type II comprising iris heterochromia and deafness, complicated by Hirschsprung's disease--a known association--and an unusual demyelinating peripheral neuropathy--a unique association. The neuropathy is characterised by excessive focal folding of myelin sheaths. It is our view that, although both disorders could represent the consequences of neural crest embryopathy, it is more likely that they are associated by chance. |
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Authors:
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J M Jacobs; J Wilson |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Acta neuropathologica Volume: 83 ISSN: 0001-6322 ISO Abbreviation: Acta Neuropathol. Publication Date: 1992 |
Date Detail:
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Created Date: 1992-08-21 Completed Date: 1992-08-21 Revised Date: 2007-11-09 |
Medline Journal Info:
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Nlm Unique ID: 0412041 Medline TA: Acta Neuropathol Country: GERMANY |
Other Details:
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Languages: eng Pagination: 670-4 Citation Subset: IM |
Affiliation:
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Department of Neuropathology, Institute of Neurology, London, UK. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Child Demyelinating Diseases / pathology* Electroencephalography Hirschsprung Disease / complications, pathology Humans Male Myelin Sheath / ultrastructure Sural Nerve / pathology Waardenburg's Syndrome / complications, pathology* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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