Document Detail


CINCA Syndrome.
MedLine Citation:
PMID:  18175851     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
CINCA syndrome is a genetic disorder characterized by early onset of recurrent fever, rash, progressive articular and neurological involvement. We report a 7-year-old girl with CINCA syndrome with an infrequent manifestation of retinal vasculitis and a relative paucity of neurological signs. She had a de novo F309S mutation in exon 3 of CIAS1 gene on chromosome 1. This is the first report of this entity from India.
Authors:
Chetna Khemani; Raju Khubchandani
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Indian pediatrics     Volume:  44     ISSN:  0019-6061     ISO Abbreviation:  Indian Pediatr     Publication Date:  2007 Dec 
Date Detail:
Created Date:  2008-01-07     Completed Date:  2008-02-27     Revised Date:  2009-11-03    
Medline Journal Info:
Nlm Unique ID:  2985062R     Medline TA:  Indian Pediatr     Country:  India    
Other Details:
Languages:  eng     Pagination:  933-6     Citation Subset:  IM    
Affiliation:
Department of Neurosurgery, Sanjay Gandhi Postgraduate Institute of Medical Science, Lucknow 226 014, U.P., India.
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MeSH Terms
Descriptor/Qualifier:
Age Factors
Arthritis / drug therapy*,  genetics
Azathioprine / therapeutic use
Carrier Proteins / genetics*
Child
Chronic Disease
Erythema / drug therapy*,  genetics
Female
Fever / drug therapy*,  genetics
Humans
Mutation
Nervous System Diseases / drug therapy*,  genetics
Prednisolone / therapeutic use
Syndrome
Chemical
Reg. No./Substance:
0/Carrier Proteins; 0/NLRP3 protein, human; 446-86-6/Azathioprine; 50-24-8/Prednisolone

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


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