Rett syndrome phenotype following infantile acute
encephalopathy.
Fiumara A, Polizzi A, Mazzei R, Conforti L, Magariello A, Sorge G, Pavone L.
Department of Pediatrics, University of Catania, Italy.
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.
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