SÍNDROME DE RUBINSTEIN-TAYBI: NOVA MUTAÇÃO
Resumo
Introdução: O Síndrome de Rubinstein-Taybi (SRT) tem uma prevalência de 1:100000 – 125000 e deve-se a microdelecção do cr16p13.3, mutação do gene CREBBP ou do gene EP300.
Caso clínico: ♀, 8 anos. Gestação normal, ao nascer apresentava polegares grandes, luxação e fusão da primeira falange
bilateralmente. Avaliada aos 3 anos por atraso global do desenvolvimento, perturbação da linguagem e comportamento
hipercinético. Apresentava microcefalia, estrabismo divergente, respiração oral, clinodactilia, escoliose e hipertricose. Da
investigação realizada destaca-se RMN CE com lesões encefaloclásticas no córtex temporal e insular bilateralmente e hipoacúsica esquerda minor. Mutação heterozigótica c2803c>T (p.Gln935X) no exão 15 do gene CREBBP, ausente nos pais.
Actualmente cumpre currículo individual, recebe terapia da fala e está medicada com metilfenidato e risperidona.
Comentários: O défice cognitivo e as alterações do exame objectivo sugeriram SRT. A mutação c2803c>T (p.Gln935X)
no gene CREBBP foi associada pela primeira vez a este síndrome.
Palavras-chave: Rubinstein-Taybi, nova mutação, défice cognitivo, polegar grande
Texto Completo:
PDFReferências
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