title: Anesthetic considerations in the child with Gaucher disease.
abstract: We present the case of a 7-month-old girl with Gaucher disease who required anesthetic care during laryngoscopy, bronchoscopy, and central line placement. Gaucher disease is a familial disorder of lipid catabolism with autosomal recessive inheritance. Due to the defective function of the enzyme glucosylceramide beta-glucosidase, glycosphingolipids accumulate, leading to end-organ dysfunction. Three clinical variants of the disease, which differ in age of onset, degree of central nervous system (CNS) involvement, and frequency in the population, have been described. Of concern to the anesthesiologist is the occurrence of significant CNS dysfunction in types II and III, with seizures, gastroesophageal reflux, and chronic aspiration. Bulbar involvement and infiltration of the upper airway with glycolipids may lead to upper airway obstruction. Additionally, hepatosplenomegaly, present in all three variants, may lead to hypersplenism with thrombocytopenia and anemia. Preoperative identification of the associated end-organ dysfunction will allow the safe provision of anesthetic care for these children.
authors.affiliation: Department of Pediatrics, Vanderbilt University, Nashville, TN 37232.
authors.forename: J D
authors.initials: JD
authors.lastname: Tobias
authors.forename: R
authors.initials: R
authors.lastname: Atwood
authors.forename: S
authors.initials: S
authors.lastname: Lowe
authors.forename: G W
authors.initials: GW
authors.lastname: Holcomb
mesh_terms: D000768:Anesthesia, General; D000769:Anesthesia, Inhalation; D000771:Anesthesia, Intravenous; D005260:Female; D005776:Gaucher Disease / Q000503:physiopathology; D006221:Halothane / Q000008:administration & dosage; D006801:Humans; D007223:Infant; D008874:Midazolam / Q000008:administration & dosage; D009609:Nitrous Oxide / Q000008:administration & dosage; D011229:Preanesthetic Medication; D013874:Thiopental / Q000008:administration & dosage; D014673:Vecuronium Bromide / Q000008:administration & dosage
chemical_list: D014673:Vecuronium Bromide; D013874:Thiopental; D009609:Nitrous Oxide; D008874:Midazolam; D006221:Halothane