Brazilian Journal of Anesthesiology
https://bjan-sba.org/article/doi/10.1590/S0034-70942004000500009
Brazilian Journal of Anesthesiology
Clinical Information

Anestesia em criança com síndrome de Pallister-Killian: relato de caso

Anesthesia in child with Pallister-Killian syndrome: case report

José Roquennedy Souza Cruz; Rogério Luiz da Rocha Videira

http://dx.doi.org/10.1590/S0034-70942004000500009 Braz J Anesthesiol, vol.54, n5, p.677-680, 2004
PDF Português
PDF English
Downloads: 0
Views: 2194

Resumo

JUSTIFICATIVA E OBJETIVOS: A síndrome de Pallister-Killian (SPK) é uma doença genética rara causada por uma anomalia, em mosaico, no cromossomo 12. Há pouca informação sobre esta síndrome na literatura anestésica. O objetivo deste relato foi divulgar e discutir as características que podem ser de interesse para a anestesia. RELATO DO CASO: Paciente do sexo masculino, 5 anos de idade, foi submetido a anestesia geral para a realização de ressonância magnética do crânio. Apresentava as características típicas da SPK: dismorfismo facial, alopecia temporal, micrognatismo, macroglossia, retardo mental, convulsões e alterações pigmentares cutâneas. A anestesia foi induzida e mantida com sevoflurano sob máscara facial e cânula orofaríngea, com ventilação assistida manual durante a indução. Não houve intercorrências e o exame foi feito em regime ambulatorial. CONCLUSÕES: A importância da avaliação pré-anestésica é enfatizada, devido às malformações, inclusive cardíacas, associadas a esta síndrome. É recomendada a preparação para possível dificuldade de intubação traqueal ou de manutenção das vias aéreas.

Palavras-chave

ANESTESIA, DOENÇAS

Abstract

BACKGROUND AND OBJECTIVES: Pallister-Killian Syndrome (PKS) is a rare genetic disease due to a mosaic anomaly of chromosome 12. There is little information about PKS in the anesthetic literature. This report aimed at discussing aspects of this syndrome that may be relevant to anesthesia. CASE REPORT: A 5-year-old male patient with typical PKS characteristics (facial dimorphism, temporal alopecia, micrognathia, macroglossia, mental retardation, seizures and pigmentary skin lesions) was scheduled to magnetic resonance of the head under general anesthesia. He was induced and maintained with sevoflurane under facial mask and oropharyngeal canulla. Pulmonary ventilation was manually assisted during induction. There has been no complication and the procedure was performed in outpatient regimen. CONCLUSIONS: The importance of a thorough preanesthetic evaluation is emphasized due to possible malformations associated to PKS, including cardiopathies. Attention to difficult intubation or maintenance of the airways is recommended.

Keywords

ANESTHESIA, DISEASES

References

Sugayama SM, Bertola DR, Albano LMJ. Síndrome de Pallister-Killian ou tetrassomia do braço curto do cromossomo 12 em mosaico: relato de dois casos diagnosticados pela hibridização in situ por fluorescência (FISH). Pediatria. 2000;22:255-263.

Cormier-Daire V, Le Merrer M, Gigarel N. Prezygotic origin of the isochromosome 12p in Pallister-Kiliian syndrome. Am J Med Genet. 1997;69:166-168.

Schinzel A. Tetrasomy 12p (Pallister-Killian syndrome). J Med Genet. 1991;28:122-125.

Bielanska MM, Khalifa MM, Duncan AM. Pallister-Killian syndrome: a mild case diagnosed by fluorescence in situ hybridization. Review of the literature and expansion of the phenotype.. Am J Med Genetic. 1996;65:104-108.

Reynolds JF, Daniel A, Kelly TE. Isochromosome 12p mosaicism (Pallister mosaic aneuploidy or Pallister-Killian syndrome): report of 11 cases. Am J Med Genet. 1987;27:257-274.

Horneff G, Majewski F, Hildebrand B. Pallister-Killian syndrome in older children and adolescents. Pediatr Neurol. 1993;9:312-315.

Iacobucci T, Galeone M, De Francisci G. Anaesthetic management of a child with Palllister-Killian syndrome. Paediatr Anaesth. 2003;13:457-459.

Schaefer GB, Jochar A, Muneer R. Clinical variability of tetrasomy 12p. Clin Genet. 1997;51:102-108.

Genevieve D, Cormier-Daire V, Sanlaville D. Mild phenotype in a 15-year-old boy with Pallister-Killian syndrome. Am J Med Genet. 2003;116A:90-93.

Morgan Jr GE, Mikhail MS, Murray MJ. Clinical Anesthesiology. 2002:156-159.

Morgan Jr GE, Mikhail MS, Murray MJ. Clinical Anesthesiology. 2002:869-874.

Infosino A. Pediatric upper airway and congenital anomalies. Anesthesiol Clin North America. 2002;20:747-766.

5dd6e4d40e88253f3c13f286 rba Articles
Links & Downloads
2352-2291 (Electronic) 0104-0014 (Printed)
Braz J Anesthesiol ©2024 All rights reserved.

Braz J Anesthesiol

Share this page
Page Sections