Sedation and general anesthesia for patients with Cornelia De Lange syndrome: A case series

Alessandra Moretto, Vittorio Scaravilli, Valentina Ciceri, Mariagrazia Bosatra, Federica Giannatelli, Bianca Ateniese, Milena Mariani, Anna Cereda, Simone Sosio, Alberto Zanella, Antonio Maria Pesenti, Angelo Selicorni

Research output: Contribution to journalArticle

Abstract

Cornelia De Lange syndrome (CdLS) is a rare congenital disease characterized by typical facial dysmorphism, developmental disability, and limb deficiency defects. Various congenital malformations and medical complications have been described with gastroesophageal reflux as the major one. CdLS patients often require multiple high-risk anesthetic procedures. At San Gerardo Hospital (Monza, Italy) the management of CdLS patients is routinely organized through a standard protocol and a dedicated pediatric anesthesia team has been implemented. We report on a retrospective descriptive analysis of the anesthetic records of the CdLS patients admitted to San Gerardo Hospital from January 2010 to December 2015. We retrieved: demographics, genetic profiles, type of procedures, anesthetic approaches, anesthetics usage and complications. Data are reported as median (interquartile range) values. Twenty-seven patients (11 female), with age 12 (7-15) years old, weight 24 (14-35) kg, and severity score of 25 (18-32) were included. NIBPL mutations were the most frequently represented. We analyzed 58 procedures (30 esophagogastroduodenoscopies, 8 evoked auditory potential tests, 5 radiodiagnostics, 5 catheters positioning, 4 bronchoscopies) managed by sedation (36) and general anesthesia (6). Each patient underwent one (1-2) anesthetic procedure. Propofol (59%), sevoflurane (31%), fentanyl (24%), and ketamine (10%) were used. Three out of six endotracheal intubations were difficult. The only documented intraoperative complications were three episodes of desaturation (oxygen saturation

Original languageEnglish
Pages (from-to)222-228
Number of pages7
JournalAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Volume172
Issue number2
DOIs
Publication statusPublished - 2016

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Keywords

  • De Lange syndrome
  • Deep sedation
  • General anesthesia
  • Intraoperative complications
  • Retrospective study

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Moretto, A., Scaravilli, V., Ciceri, V., Bosatra, M., Giannatelli, F., Ateniese, B., Mariani, M., Cereda, A., Sosio, S., Zanella, A., Pesenti, A. M., & Selicorni, A. (2016). Sedation and general anesthesia for patients with Cornelia De Lange syndrome: A case series. American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, 172(2), 222-228. https://doi.org/10.1002/ajmg.c.31493