Rett syndrome: clinical and epidemiological aspects in a Brazilian institution
Rett syndrome (RS) is a neurodevelopmental disorder, preferentially found in females and specifically involving the functions on which intelligence and its expression depend - learning, hand use and speech - leaving many others intact. Mutations have been identified at Xq28 on the MECP2 gene (methyl-CpG 2), which selectively silences the expression of other genes whose location is still unknown. This is a study on clinical, diagnostic and epidemiological aspects of RS in a Brazilian sample. It included 33 female patients with chronic encephalopathy without known etiology. RS was diagnosed in 24 patients (72.7%): 17 (70.8%) had classical RS; 5 (20.8%), atypical RS and 2 (8.4%), potential RS. In 9 girls clinical data and/or laboratory studies excluded diagnosis of RS. Among the atypical RS patients, 4 were form fruste and one, congenital form. Among the girls with other encephalopathies, cerebral malformation was the most frequent finding.
| Main Authors: | , |
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| Format: | Digital revista |
| Language: | English |
| Published: |
Academia Brasileira de Neurologia - ABNEURO
2003
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| Online Access: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2003000600004 |
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