Rett syndrome
Citations
Fiumara A, Polizzi A, Mazzei R, Conforti L, Magariello A, Sorge G, Pavone L.
Rett syndrome phenotype following infantile acute encephalopathy.
J Child Neurol 2002 Sep;17(9):700-2 .
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.