Document Detail

Rett syndrome phenotype following infantile acute encephalopathy.
MedLine Citation:
PMID:  12503649     Owner:  NLM     Status:  MEDLINE    
Rett syndrome is a progressive neurodevelopmental disorder with a well-defined clinical spectrum and course. Recently, mutations in the gene encoding X-linked methyl-CpG binding protein 2 (MECP2) have been identified as the cause of Rett syndrome. Along with the classic form, variant forms of Rett syndrome and Rett syndrome phenotypes are also recognized. We report on a girl who, at age 2 months, developed an acute encephalopathy with destructive brain damage 12 hours after acellular pertussis vaccination. Peripheral lymphocyte subset analysis revealed the existence of T lymphocytes double positive for CD4 and CD8 markers. This pattern normalized over the following 3 months. Months later, the girl manifested a Rett syndrome phenotype. DNA screening of the MECP2 gene was unrevealing in the child and her parents. This previously unreported association emphasizes the notion that Rett syndrome phenotypes can result from different (either genetic or environmental) causes.
Agata Fiumara; Agata Polizzi; Rosalucia Mazzei; Luisa Conforti; Angela Magariello; Giovanni Sorge; Lorenzo Pavone
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of child neurology     Volume:  17     ISSN:  0883-0738     ISO Abbreviation:  J. Child Neurol.     Publication Date:  2002 Sep 
Date Detail:
Created Date:  2002-12-30     Completed Date:  2003-02-06     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8606714     Medline TA:  J Child Neurol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  700-2     Citation Subset:  IM    
Department of Pediatrics, University of Catania, Italy.
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MeSH Terms
Acute Disease
Encephalomyelitis, Acute Disseminated / etiology*
Pertussis Vaccine / adverse effects*
Rett Syndrome / etiology*
Vaccines, Acellular / adverse effects
Reg. No./Substance:
0/Pertussis Vaccine; 0/Vaccines, Acellular

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

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