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[Considerations regarding one particular case of Rett syndrome]
Adriana Sireteanu1, Cristina Rusu, Dana Anton
1Spitalul de Copii Sf Maria Iaşi, Cabinetul de Boli Genetice.
Abstract:
Rett syndrome is a form of X-linked mental retardation limited to females, expressed by postnatal microcephaly, moderate/severe mental retardation and prominent autistic features. We present a case to illustrate this rare entity, but also to discuss the suggestive behaviour and to underline the importance of diagnostic criteria. Our case associates porencephaly and positive CMV test that raised diagnostic difficulties in the beginning.
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