Síndrome de Rett: análise dos primeiros cinco casos diagnosticados no Brasil

-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 speechleaving 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.KEY WORDS: Rett syndrome, chronic encephalopathy, differential diagnosis. Delineação da síndrome de Rett, forma clássica e variantes: diagnóstico diferencialRESUMO -Síndrome de Rett (SR) é desordem do neurodesenvolvimento que afeta preferencialmente meninas e envolve especificamente funções cognitivas -aprendizado, habilidade manual e linguagem -deixando outras intactas. Foram identificadas mutações no gene MECP2 (Metil-CpG 2) localizado no Xq28, que silencia seletivamente a expressão de outros genes que aguardam identificação. Este estudo baseia-se em aspectos clínico-diagnósticos e epidemiológicos da SR numa casuística brasileira. Foram estudadas 33 crianças do sexo feminino portadoras de encefalopatia crônica sem evidência de etiologia para o quadro. Em 24 pacientes (72,7%)

mentioning

confidence: 81%

Rett syndrome: clinical and epidemiological aspects in a Brazilian institution

Pozzi

Rosemberg

2003

“…SakkuBai Naidu (Figure 3) and Hugo Moser, from the Kennedy Institute, promoted the first American conference on Rett syndrome in 1986, where they reported on the natural history of 70 patients 10,11 . In Brazil, in 1987, Sergio Rosemberg et al reported on the analysis of the first five Brazilian patients 12 . In 1991, linked to the International Rett Syndrome Association, the Paraná region of the Brazilian Rett Syndrome Association was founded in Curitiba, when the diagnoses of some patients were recognized.…”

Section: Rett Syndrome Genetic Studies and The Brazilian Contributionmentioning

confidence: 99%

Rett syndrome: the Brazilian contribution to the gene discovery

Pereira

Pedroso

Barsottini

et al. 2019

A brief history of the syndrome discovered by Andreas Rett is reported in this paper. Although having been described in 1966, the syndrome was only recognized by the international community after a report by Hagberg et al. in 1983. Soon, its importance was evident as a relatively frequent cause of severe encephalopathy among girls. From the beginning it was difficult to explain the absence of male patients and the almost total predominance of sporadic cases (99%), with very few familial cases. For these reasons, it was particularly difficult to investigate this condition until 1997, when a particular Brazilian family greatly helped in the final discovery of the gene, and in the clarification of its genetic mechanism. Brief references are made to the importance of the MECP2 gene, 18 years later, as well as to its role in synaptogenesis and future prospects.

“…Entre os exames realizados, as únicas alterações presentes foram quatro TAC com atrofia cerebral como já relatado por Hagberg 4 .…”

Section: Tabela 1critérios Diagnósticos De Sr Típico Nos Pacientes Eunclassified

Síndrome de Rett: estudo retrospectivo e prospectivo de 28 pacientes

Bruck

Antoniuk

Halick

et al. 2001

No período entre Novembro 1982 e Maio 1999, 28 crianças com Síndrome de Rett foram seguidas por um período médio de 6 anos e 2 meses.O início da regressão do desenvolvimento psicomotor ocorreu entre 5 e 20 meses.Os 19 casos de síndrome de Rett típica apresentavam períodos pré e perinatal normais,e evoluíram com perda das habilidades previamente adquiridas, retardo psicomotor e estereotipias de mãos; 16 tinham desaceleração do crescimento craniano e 12 tinham marcha anormal. Nove pacientes foram casos atípicos: 2 formas frustras, 2 congênitas, 3 com crises precoces, 1 com fala preservada e 1 sendo do sexo masculino. A epilepsia esteve presente em 21 pacientes com crises predominantemente parciais e a droga de escolha foi a carbamazepina (15 pacientes). Na avaliação inicial a maioria dos pacientes estava distribuída em estágios II e III da síndrome e evolutivamente passaram aos estágios III e IV, sendo que 3 faleceram.