Anestesia em paciente com síndrome de Rubinstein-Taybi: relato de caso

Carlos Rogério Degrandi Oliveira; Luciana Elias

doi:10.1590/S0034-70942005000500010

Clinical Information

Anestesia em paciente com síndrome de Rubinstein-Taybi: relato de caso

Anesthesia in patient with Rubinstein-Taybi syndrome: case report

Carlos Rogério Degrandi Oliveira; Luciana Elias

http://dx.doi.org/10.1590/S0034-70942005000500010 Braz J Anesthesiol, vol.55, n5, p.546-551, 2005

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Resumo

JUSTIFICATIVA E OBJETIVOS: A síndrome de Rubinstein-Taybi (SRT) é uma doença genética causada por uma mutação ou apagamento do cromossomo 16, caracterizada por retardo físico e mental, anormalidades craniofaciais e hálux e polegares largos. Há pouca informação sobre esta síndrome na literatura anestésica. O objetivo deste relato foi apresentar a conduta anestésica em paciente submetido à cirurgia odontológica e discutir as características de interesse para a anestesia nesses pacientes. RELATO DO CASO: Paciente do sexo masculino, 9 anos, 28 kg, submetido à anestesia geral para extrações de dentes anormalmente posicionados. Apresentava as características típicas da SRT, retardo físico e mental, anormalidades craniofaciais e hálux e polegares largos. A anestesia foi induzida e mantida com sevoflurano, inicialmente sob máscara facial e após intubação nasotraqueal em ventilação assistida manual com sistema de Bain. Não houve intercorrências e a cirurgia foi realizada em regime ambulatorial. CONCLUSÕES: A importância da avaliação pré-anestésica é enfatizada, devido às malformações, inclusive cardíacas, associadas a esta síndrome. Este paciente, em particular, não apresentava comprometimento cardíaco, presente em um terço dos casos. É recomendável preparação para possível dificuldade de manutenção das vias aéreas.

Palavras-chave

ANESTESIA, DOENÇAS

Abstract

BACKGROUND AND OBJECTIVES: Rubinstein-Taybi syndrome (RTS) is a genetic disease caused by mutation or deletion of chromosome 16, and characterized by growth and mental retardation, clubbing thumbs and toes and craniofacial abnormalities. There is little information about RTS in the anesthetic literature. This report aimed at describing the anesthetic management of a patient with Rubinstein-Taybi syndrome submitted to dentistry surgery and at discussing aspects of this syndrome that may be relevant to anesthesia. CASE REPORT: Male patient, 9-year-old, 28 kg, to be submitted to general anesthesia for extraction of abnormally positioned teeth. Patient presented with typical RTS characteristics (growth and mental retardation, clubbing thumbs and toes and craniofacial abnormalities). Anesthesia was induced and initially maintained with sevoflurane under facial mask; after tracheal intubation it was maintained under manually controlled ventilation with Bain system. There have been no complications and procedure was performed in outpatient regimen. CONCLUSIONS: The importance of thorough preanesthetic evaluation is emphasized due to possible associated malformations, including heart diseases. In this particular case, there was no heart disease, which is reported to be present in one-third of cases. Attention to difficult airway maintenance is recommended.

Keywords

ANESTHESIA, DISEASES

Referências

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Anestesia em paciente com síndrome de Rubinstein-Taybi: relato de caso

Anesthesia in patient with Rubinstein-Taybi syndrome: case report

Carlos Rogério Degrandi Oliveira; Luciana Elias

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Abstract

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