title: Rett syndrome phenotype following infantile acute encephalopathy.
abstract: 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.
authors.affiliation: Department of Pediatrics, University of Catania, Italy.
authors.forename: Agata
authors.initials: A
authors.lastname: Fiumara
authors.forename: Agata
authors.initials: A
authors.lastname: Polizzi
authors.forename: Rosalucia
authors.initials: R
authors.lastname: Mazzei
authors.forename: Luisa
authors.initials: L
authors.lastname: Conforti
authors.forename: Angela
authors.initials: A
authors.lastname: Magariello
authors.forename: Giovanni
authors.initials: G
authors.lastname: Sorge
authors.forename: Lorenzo
authors.initials: L
authors.lastname: Pavone
mesh_terms: D000208:Acute Disease; D002648:Child; D004673:Encephalomyelitis, Acute Disseminated / Q000209:etiology*; D005260:Female; D006801:Humans; D010567:Pertussis Vaccine / Q000009:adverse effects*; D010641:Phenotype; D015518:Rett Syndrome / Q000209:etiology*; D022282:Vaccines, Acellular / Q000009:adverse effects
chemical_list: D010567:Pertussis Vaccine; D022282:Vaccines, Acellular