Document Detail


Cerebro-hepato-renal syndrome with parental consanguinity.
MedLine Citation:
PMID:  976619     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
A case of cerebro-hepato-renal syndrome with some unusual features is reported. The neuropathological findings are described in detail. Electronmicroscopy showed astrocytes in the demyelinated areas of the brain to contain granules composed of laminated osmiophilic material. These structures could be abnormal mitochondria. The parental consanguinity in this case would further support an autosomal recessive mode of inheritance.
Authors:
S Variend; W R Timperley; S Hill; L S Taitz
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Developmental medicine and child neurology     Volume:  18     ISSN:  0012-1622     ISO Abbreviation:  Dev Med Child Neurol     Publication Date:  1976 Oct 
Date Detail:
Created Date:  1977-01-03     Completed Date:  1977-01-03     Revised Date:  2009-11-11    
Medline Journal Info:
Nlm Unique ID:  0006761     Medline TA:  Dev Med Child Neurol     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  660-5     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Astrocytes
Brain / pathology
Brain Diseases / complications*,  pathology
Consanguinity*
Cysts
Demyelinating Diseases
Female
Humans
Infant, Newborn
Kidney Cortex / pathology
Kidney Diseases / complications*,  pathology
Liver / pathology
Liver Diseases / complications*,  pathology
Syndrome

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


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