Document Detail


An unusual demyelinating neuropathy in a patient with Waardenburg's syndrome.
MedLine Citation:
PMID:  1636383     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
J M Jacobs; J Wilson
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Acta neuropathologica     Volume:  83     ISSN:  0001-6322     ISO Abbreviation:  Acta Neuropathol.     Publication Date:  1992  
Date Detail:
Created Date:  1992-08-21     Completed Date:  1992-08-21     Revised Date:  2007-11-09    
Medline Journal Info:
Nlm Unique ID:  0412041     Medline TA:  Acta Neuropathol     Country:  GERMANY    
Other Details:
Languages:  eng     Pagination:  670-4     Citation Subset:  IM    
Affiliation:
Department of Neuropathology, Institute of Neurology, London, UK.
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MeSH Terms
Descriptor/Qualifier:
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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