BackgroundPatients suffering from mucopolysaccharidosis are among the most complex from the anesthesiological point of view, especially regarding the management of the airway. The evidence base for anesthesia management is often limited to case reports and small case series.AimsTo identify useful information about experience with each subtype of mucopolysaccharidosis reported in the literature and propose a guide on the best options for airway management to the anesthesiologists who take care of these patients.MethodsA query of the PubMed database specific for “anesthesia” and “mucopolysaccharidosis” and a further query specific for “mucopolysaccharidosis and difficult airway management” was conducted. We looked for those items that offered practical guidance to anesthesiological management. We did not exclude case reports, especially those that reported a specific technique, because of their practical suggestions.ResultsWe identified 15 reviews, 17 retrospective case series, 5 prospective studies, and 28 case reports that focused on airway managements in anesthesia or had practical suggestions for preoperative evaluation and risk assessment. An accurate preoperative evaluation and the need for an experienced team are emphasized in all the reviewed articles and for each type of mucopolysaccharidosis. Many suggestions on how to plan the perioperative period have been highlighted. Insertion of a laryngeal mask airway generally improves ventilation and facilitates intubation with a fiberoptic bronchoscope. Furthermore, the videolaryngoscope is very useful in making intubation easier and facilitating bronchoscope passage.ConclusionsPatients with mucopolysaccharidosis are at high risk for anesthesia-related complications and require a high level of attention. However, a multidisciplinary approach, combined with expertise in the use of new techniques and new devices for airway management, makes anesthesiological management safer. Further research with prospective studies would be useful.Electronic supplementary materialThe online version of this article (10.1186/s13052-018-0554-1) contains supplementary material, which is available to authorized users.

Patients with mucopolysaccharidoses are at high risk for anesthesia-related complications. Remote location anesthesia is associated with increased risk for complications, and older age is associated with increased risk for difficult intubation.

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.

Pediatric patients with hematologic malignancies require several procedural sedations by means of propofol infusion. We retrospectively analyzed the medical records of leukemic pediatric patients who had undergone procedural sedations at an Italian tertiary referral center (San Gerardo Hospital, Monza) from January 2011 to November 2013. We retrieved the following: demographics; diagnosis; chemotherapy phase; use of corticosteroids; induction dosage of propofol, fentanyl and/or ketamine; and the type of procedure. We used a multivariate linear mixed model to evaluate the factors affecting induction propofol dose. We analyzed 1459 procedures (59% lumbar punctures, 31% bone marrow aspirations) performed on 96 children (7 [4-10] y old, 24 [16-34] kg, 37% female) admitted for acute lymphoblastic leukemia (80%), lymphoma (11%), and acute myeloid leukemia (7%). The induction propofol dose increased by 0.03 mg/kg per each procedure (P<0.05), from 2.6 (2.0-3.2) to 3.5 (2.6-4.3) mg/kg at the first and the last procedure, respectively. Higher age, weight, and use of ketamine were associated to lower propofol dosage (P<0.01), while combined procedures increased propofol dosage (P<0.01). In a large cohort of leukemic pediatric patients undergoing procedural sedation, the induction dose of propofol was increased over time, regardless of weight, age, use of corticosteroids, diagnosis, and treatment phase.

Introduction. CMG are usually low-grade tumors often found in pediatric age. Histological findings, treatments and classification have been much the same for 40 years, although histological and molecular classifications have largely been developed for other pediatric CNS tumors. The management and treatment of pediatric CMG is still conducted by many authors according to their anatomical location and characteristics, independently from histology. Methods. We conducted a literature review in PubMed (Medline) to identify relevant contributions about pediatric CMG published until December 31st, 2021. We also analyzed a series of 10 patients with CMG treated from 2006 to 2021 at IRCCS Istituto Nazionale dei Tumori. The aim of the present review is to see whether and how the diagnosis, treatment and classification of cervicomedullary gliomas (CMG) in children have developed over time, especially in the context of molecular advancements, and to analyze our single center experience in the last 15 years. Results. Thirty articles have been included in the review. Articles have been divided in two historical periods (1981-2000 and 2001-2021) and data from different series were analyzed to see how much the management and treatment of pediatric CMG have changed during years. Analysis of our series of 10 patients affected by CMG was also performed to compare it with the literature. Discussion. Management and classification of CMG in children has not dramatically changed during years. However, new insight from molecular diagnostics and target therapies and development of radiological, neurophysiological and radiotherapy techniques have updated treatment modalities in the last 20 years. Treatment modalities and their innovations have been reviewed and discussed. Further studies are needed to standardize and customize treatment protocols for these tumors.