title: [Considerations regarding one particular case of Rett syndrome].
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.
authors.affiliation: Spitalul de Copii Sf Maria Iaşi, Cabinetul de Boli Genetice.
authors.forename: Adriana
authors.initials: A
authors.lastname: Sireteanu
authors.forename: Cristina
authors.initials: C
authors.lastname: Rusu
authors.forename: Dana
authors.initials: D
authors.lastname: Anton
authors.forename: M
authors.initials: M
authors.lastname: Covic
mesh_terms: D000015:Abnormalities, Multiple; D001321:Autistic Disorder / Q000209:etiology; D001921:Brain / Q000002:abnormalities / Q000000981:diagnostic imaging; D002675:Child, Preschool; D003586:Cytomegalovirus Infections / Q000150:complications / Q000151:congenital; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D007621:Karyotyping; D051783:Methyl-CpG-Binding Protein 2 / Q000235:genetics; D008831:Microcephaly / Q000209:etiology; D009460:Neurologic Examination; D011859:Radiography; D015518:Rett Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D013239:Stereotyped Behavior
chemical_list: D051783:Methyl-CpG-Binding Protein 2