Document Detail


Polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction: POLIP syndrome.
MedLine Citation:
PMID:  2173474     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We describe 5 individuals (from three separate families) with a progressive neurological disorder characterized by sensorimotor peripheral polyneuropathy, cranial neuropathies (external ophthalmoplegia, deafness), and the syndrome of chronic intestinal pseudo-obstruction. Magnetic resonance imaging showed widespread abnormality of the cerebral and cerebellar white matter in the 2 patients studied. Autopsy examination in 3 revealed widespread endoneurial fibrosis and demyelination in the peripheral nervous system, possibly secondary to axonal atrophy, and poorly defined changes in cerebral white matter (leukoencephalopathy). The cranial nerves and spinal roots were less severely involved and the neurons in the brainstem and spinal cord were intact. The fatal gastrointestinal dysmotility was due to a severe visceral neuropathy. We suggest that these patients manifested a hereditary disorder with distinctive clinical, radiological, and neuropathological features, and propose the acronym POLIP to emphasize the distinctive tetrad of polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction.
Authors:
L T Simon; D S Horoupian; L J Dorfman; M Marks; M K Herrick; P Wasserstein; M E Smith
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Annals of neurology     Volume:  28     ISSN:  0364-5134     ISO Abbreviation:  Ann. Neurol.     Publication Date:  1990 Sep 
Date Detail:
Created Date:  1990-12-06     Completed Date:  1990-12-06     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7707449     Medline TA:  Ann Neurol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  349-60     Citation Subset:  IM    
Affiliation:
Department of Neurology, Stanford University School of Medicine, CA.
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MeSH Terms
Descriptor/Qualifier:
Adult
Brain / radiography
Brain Diseases / complications*,  genetics,  radiography
Digestive System / radiography
Female
Humans
Intestinal Pseudo-Obstruction / complications*,  genetics,  pathology
Magnetic Resonance Imaging
Male
Ophthalmoplegia / complications*,  genetics,  pathology
Pedigree
Peripheral Nervous System Diseases / complications*,  genetics,  pathology
Syndrome

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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