[Considerations regarding one particular case of Rett syndrome].
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.
Sireteanu
Adriana
A
Spitalul de Copii Sf Maria Iaşi, Cabinetul de Boli Genetice.
Rusu
Cristina
C
Anton
Dana
D
Covic
M
M
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
D051783:Methyl-CpG-Binding Protein 2