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 <90%) occurring during sedations and were managed without the need for an invasive control of the airways. Implementation of a specific management protocol and a dedicated allowed to provide anesthesia to CdLS patients without the occurrence of major complications. © 2016 Wiley Periodicals, Inc.

Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement

“…In 50% of children with CdLS who have undergone intubation, the procedure has been difficult. Moreover, an adverse allergic reaction to midazolam (a short-acting benzodiazepine used for sedation) can occur 52 , although complications due to anaesthetic medications are rare 53 .…”

“…Therefore, consultation with an anaesthesiologist before surgery is advisable (R42). Complications of anaesthesia in adults have been reported 53 .…”

Anesthetic management of a child with Cornelia de Lange Syndrome undergoing open heart surgery: A case report

“…Different authors have referred to difficult airway probabilities, and various reports have mentioned some device suggestions instead of a conventional laryngoscope such as a laryngeal mask airway, fiberoptic endoscopes, and a Pentax Airway Scope GlideScope video laryngoscope[ 13 - 15 ]. Uncomplicated airway management, particularly in the intraoperative period has also been reported[ 16 , 17 ]. In our case, micro-brachycephaly, short neck, macroglossia, micrognathia, and a cleft lip and palate were some craniofacial features that could increase the probability of difficulties in airway management.…”

Advancing the Clinical and Molecular Understanding of Cornelia De Lange Syndrome: A Multidisciplinary Pediatrics Case Series and Review of Literature

“…Alternatively, intravenous induction with careful titration of drugs such as propofol or etomidate can provide better airway control, against seizures, and reduced emergence agitation if dosed appropriately. Percutaneous tracheostomy may be a chronic airway management strategy [16,17].…”