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

3 Citations (Scopus)

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

Fingerprint

De Lange Syndrome
General Anesthesia
Anesthetics
Digestive System Endoscopy
Auditory Evoked Potentials
Developmental Disabilities
Intratracheal Intubation
Intraoperative Complications
Ketamine
Bronchoscopy
Fentanyl
Propofol
Gastroesophageal Reflux
Rare Diseases
Italy
Catheters
Extremities
Anesthesia
Demography
Pediatrics

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Sedation and general anesthesia for patients with Cornelia De Lange syndrome : A case series. / Moretto, Alessandra; Scaravilli, Vittorio; Ciceri, Valentina; Bosatra, Mariagrazia; Giannatelli, Federica; Ateniese, Bianca; Mariani, Milena; Cereda, Anna; Sosio, Simone; Zanella, Alberto; Pesenti, Antonio Maria; Selicorni, Angelo.

In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics, Vol. 172, No. 2, 2016, p. 222-228.

Research output: Contribution to journalArticle

Moretto, A, Scaravilli, V, Ciceri, V, Bosatra, M, Giannatelli, F, Ateniese, B, Mariani, M, Cereda, A, Sosio, S, Zanella, A, Pesenti, AM & 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, vol. 172, no. 2, pp. 222-228. https://doi.org/10.1002/ajmg.c.31493
Moretto, Alessandra ; Scaravilli, Vittorio ; Ciceri, Valentina ; Bosatra, Mariagrazia ; Giannatelli, Federica ; Ateniese, Bianca ; Mariani, Milena ; Cereda, Anna ; Sosio, Simone ; Zanella, Alberto ; Pesenti, Antonio Maria ; Selicorni, Angelo. / Sedation and general anesthesia for patients with Cornelia De Lange syndrome : A case series. In: American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 2016 ; Vol. 172, No. 2. pp. 222-228.
@article{44ecda263a3c484290b0e91d5b234cd9,
title = "Sedation and general anesthesia for patients with Cornelia De Lange syndrome: A case series",
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",
keywords = "De Lange syndrome, Deep sedation, General anesthesia, Intraoperative complications, Retrospective study",
author = "Alessandra Moretto and Vittorio Scaravilli and Valentina Ciceri and Mariagrazia Bosatra and Federica Giannatelli and Bianca Ateniese and Milena Mariani and Anna Cereda and Simone Sosio and Alberto Zanella and Pesenti, {Antonio Maria} and Angelo Selicorni",
year = "2016",
doi = "10.1002/ajmg.c.31493",
language = "English",
volume = "172",
pages = "222--228",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
publisher = "Wiley-Liss Inc.",
number = "2",

}

TY - JOUR

T1 - Sedation and general anesthesia for patients with Cornelia De Lange syndrome

T2 - A case series

AU - Moretto, Alessandra

AU - Scaravilli, Vittorio

AU - Ciceri, Valentina

AU - Bosatra, Mariagrazia

AU - Giannatelli, Federica

AU - Ateniese, Bianca

AU - Mariani, Milena

AU - Cereda, Anna

AU - Sosio, Simone

AU - Zanella, Alberto

AU - Pesenti, Antonio Maria

AU - Selicorni, Angelo

PY - 2016

Y1 - 2016

N2 - 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

AB - 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

KW - De Lange syndrome

KW - Deep sedation

KW - General anesthesia

KW - Intraoperative complications

KW - Retrospective study

UR - http://www.scopus.com/inward/record.url?scp=84964786149&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84964786149&partnerID=8YFLogxK

U2 - 10.1002/ajmg.c.31493

DO - 10.1002/ajmg.c.31493

M3 - Article

AN - SCOPUS:84964786149

VL - 172

SP - 222

EP - 228

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

SN - 1552-4825

IS - 2

ER -