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 language | English |
|---|---|
| Pages (from-to) | 222-228 |
| Number of pages | 7 |
| Journal | American Journal of Medical Genetics, Part C: Seminars in Medical Genetics |
| Volume | 172 |
| Issue number | 2 |
| DOIs | |
| Publication status | Published - 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
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 journal › Article
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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 -