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

References

Rubinstein JH, Taybi H. Broad thumbs and toes and facial abnormalities. A possible mental retardation syndrome. Am J Dis Child. 1963;105:588-608.

Isayama S, Nakayama R, Sakamoto M. General anesthesia for an infant with Rubinstein-Taybi syndrome. Masui. 1997;46:1094-1096.

Petrij F, Dauwerse HG, Blough RI. Diagnostic analysis of the Rubinstein-Taybi syndrome: five cosmids should be used for microdeletion detection and low number of protein truncating mutations. J Med Genet. 2000;37:168-176.

Lacombe D. Rubinstein-Taybi syndrome. Arch Pediatr. 1994;1:681-683.

Cantani A, Gagliesi D. Rubinstein-Taybi syndrome. Review of 732 cases and analysis of the typical traits. Eur Rev Med Pharmacol Sci. 1998;2:81-87.

Preis S, Majewski F. Monozygotic twins concordant for Rubinstein-Taybi syndrome: changing phenotype during infancy. Clin Genet. 1995;48:72-75.

Ghanem Q, Dawod S. Monozygotic twins concordant for Rubinstein-Taybi syndrome. Clin Genet. 1990;37:429-434.

Hennekam RC, Lommen EJ, Strengers JL. Rubinstein-Taybi syndrome in a mother and son. Eur J Pediatr. 1989;148:439-441.

Cruz OA, Mason DM, Eswara MS. Duane retraction syndrome associated with Rubinstein-Taybi syndrome. Ophthalmic Genet. 1995;16:171-175.

Bonioli E, Bellini C, Di Stefano. Unusual association: Dandy-Walker-like malformation in the Rubinstein-Taybi syndrome. Am J Med Genet. 1989;33:420-421.

Kim CJ, Nam JH, Chung HY. Kimura disease in a patient with Rubinstein-Taybi syndrome. Pediatr Int. 2004;46:609-611.

Rubinstein, JH. Broad thumb-hallux (Rubinstein-Taybi) syndrome 1957-1988. Am J Med Genet. 1990;6:(Suppl):3-16.

Hennekam RC, Van Doorne. Oral aspects of Rubinstein-Taybi syndrome. Am J Med Genet. 1990;6:42-47.

Baxter G, Beer J. Rubinstein-Taybi syndrome. Psychol Rep. 1992;70:451-456.

Zucconi M, Ferini-Strambi L, Erminio C. Obstructive sleep apnea in the Rubinstein-Taybi syndrome. Respiration. 1993;60:127-132.

Hennekam RC. Bibliography on Rubinstein-Taybi syndrome. Am J Med Genet. 1990;6:(Suppl):77-83.

Tokarz A, Gaszynski T, Gaszynski W. General anaesthesia for a child with Rubinstein-Taybi syndrome. Eur J Anaesthesiol. 2002;19:896-897.

Papagrigorakis MJ, Daliouris CP, Spyropoulos ND. Three cases of Rubinstein-Taybi syndrome. Odontostomatol Proodos. 1989;43:451-458.

Stevens CA, Bhakta MG. Cardiac abnormalities in the Rubinstein-Taybi syndrome. Am J Med Genet. 1995;59:346-348.

Hanauer D, Argilla M, Wallerstein R. Rubinstein-Taybi syndrome and hypoplastic left heart. Am J Med Genet. 2002;112:109-111.

Maurer I, Regensburger D, Bernhard A. Aortic valve reconstruction in Rubinstein-Taybi-syndrome: the valuable aid of transesophageal echocardiography. J Cardiovasc Surg. 1991;32:327-329.

Stirt JÁ. Anesthetic problems in Rubinstein-Taybi syndrome. Anesth Analg. 1981;60:534-536.

Quaranta L, Quaranta CA. Congenital glaucoma associated with Rubinstein-Taybi syndrome. Acta Ophthalmol Scand. 1998;76:112-113.

Bogdanici C, Neamtu N, Rusu C. Ocular signs in Rubinstein-Taybis syndrome. Oftalmologia. 2001;53:26-30.

Fujisawa K, Kinoshita K, Tawara A. A case of Rubinstein-Taybi syndrome suspected with goniodysgenetic glaucoma. Nippon Ganka Gakkai Zasshi. 1990;94:693-700.

van Genderen MM, Kinds GF, Riemslag FC. Ocular features in Rubinstein-Taybi syndrome: investigation of 24 patients and review of the literature. Br J Ophthalmol. 2000;84:1177-1184.

Kurtoglu S, Akcakus M, Gunes T. Congenital hypothyroidism associated with Rubinstein-Taybi syndrome. J Pediatr Endocrinol Metab. 2003;16:457-459.

Olson DP, Koenig RJ. Thyroid function in Rubinstein-Taybi syndrome. J Clin Endocrinol Metab. 1997;82:3264-3266.

Masuno M, Imaizumi K, Ishii T. Pilomatrixomas in Rubinstein-Taybi syndrome. Am J Med Genet. 1998;77:81-82.

Skousen GJ, Wardinsky T, Chenaille P. Medulloblastoma in patient with Rubinstein-Taybi syndrome. Am J Med Genet. 1996;66:367.

Miller RW, Rubinstein JH. Tumors in Rubinstein-Taybi syndrome. Am J Med Genet. 1995;56:112-115.

Siraganian PA, Rubinstein JH, Miller RW. Keloids and neoplasms in the Rubinstein-Taybi syndrome. Med Pediatr Oncol. 1989;17:485-491.

Critchley LA, Gin T, Stuart JC. Anaesthesia in an infant with Rubinstein-Taybi syndrome. Anaesthesia. 1995;50:37-38.

Hennekam RC, Van Den Boogaard MJ, Dijkstra P. Metacarpophalangeal pattern profile analysis in Rubinstein-Taybi syndrome. Am J Med Genet. 1990;6:(Suppl): 48-50.

Azevedo VLF, Santos PSS. Anestesia em paciente com Síndrome de Rubinstein-Taybi. Relato de Caso. Rev Bras Anestesiol. 2004;54:(Suppl33):CBA270B.

Altintas F, Cakmakkaya S. Anesthetic management of a child with Rubinstein-Taybi syndrome. Paediatr Anaesth. 2004;14:610-611.

Oliveira CRD, Elias L. Anestesia em paciente com Síndrome de Rubinstein-Taybi. Relato de Caso. Rev Bras Anestesiol. 2004;54(Suppl33).

Twigg SJ, Cook TM. Anaesthesia in an adult with Rubenstein-Taybi syndrome using the ProSeal laryngeal mask airway. Br J Anaesth. 2002;89:786-787.

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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