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Rett Syndrome Phenotype Following Infantile Acute Encephalopathy

Department of Pediatrics University of Catania Catania, Italy

Agata Polizzi, MD, PhD

Department of Pediatrics University of Catania Catania, Italy

Rosalucia Mazzei, MD

Institute of Neurological Science National Research Council Cosenza, Italy

Luisa Conforti, MD

Institute of Neurological Science National Research Council Cosenza, Italy

Angela Magariello, PhD

Institute of Neurological Science National Research Council Cosenza, Italy

Giovanni Sorge, MD

Department of Pediatrics University of Catania Catania, Italy

Lorenzo Pavone, MD

Department of Pediatrics University of Catania 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. (J Child Neurol 2002;17:700-702).

Journal of Child Neurology, Vol. 17, No. 9, 700-702 (2002)
DOI: 10.1177/088307380201700910


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