SciELO - Scientific Electronic Library Online

vol.56 issue4Neurofibromatosis associated with moyamoya arteriopathy and fusiform aneurysm: a case reportNeonatal Streptococcus pyogenes meningitis and sagittal sinus thrombosis: case report author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand




Related links


Arquivos de Neuro-Psiquiatria

Print version ISSN 0004-282XOn-line version ISSN 1678-4227


SCHWARTZMAN, JOSÉ SALOMÃO; SOUZA, ANGELA MARIA COSTA DE; FAIWICHOW, GUIDO  and  HERCOWITZ, LUIZ HENRIQUE. Rett syndrome phenotype in XXY karyotype: case report. Arq. Neuro-Psiquiatr. [online]. 1998, vol.56, n.4, pp.824-828. ISSN 0004-282X.

We report the case of a XXY boy who presents progressive neurological disorder which has started around eleven months of age, with developmental stagnation followed by regression. The child presents as well stereotypic hand movements, loss of purposeful hands use and microcephalia. Presence of any defined systemic or neurological condition which could be pointed out as the possible etiological factor for the case was not found out by investigations. It deals with a boy with phenotypic alterations very similar to those considered typical for Rett syndrome which associated with chromosomal alteration (XXY kariotype) constitute evident scientific interest.

Keywords : Rett syndrome; XXY karyotype; Klinefelter syndrome.

        · abstract in Portuguese     · text in Portuguese     · Portuguese ( pdf epdf )


Creative Commons License All the contents of this journal, except where otherwise noted, is licensed under a Creative Commons Attribution License