title: [Anesthetic management of a patient with Smith-Lemli-Opitz syndrome complicated with thrombocytopenia].
abstract: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive syndrome, characterized by severe growth failure and congenital anomalies (for example dysgenesis, mental retardation, renal and cardiac defects, and various malformation). SLOS results from error of a cholesterol enzyme and generalized cholesterol deficiency. This report describes our experience of a patient with SLOS and thrombocytopenia who underwent anesthesia twice for surgical procedures in a year. The patient received drip platelet transfusion for thrombocytopenia before operations. Anesthesia was induced with inhalation of oxygen, nitrous oxide and sevoflurane, and maintained with oxygen, propofol, fentanyl and low concentrations of sevoflurane. Airway was maintained with laryngeal mask airway. Complications were not seen in this case. One of the problems in anesthetic management of SLOS is difficult intubation because of the typical dysmorphic facial features such as micrognathia, cleft palate and abnormal tongue. We thought that laryngeal mask airway was useful and safe for SLOS patients. Two cases of malignant hyperthermia were reported in anesthetic management of SLOS by using halothane or suxamethonium. In this case, the anesthetic maintenance was mostly with propofol and fentanyl. Malignant hyperthermia did not occur but sevoflurane was used at low concentrations. SLOS presents various problems with anesthetic management and we have to administer general anesthesia carefully.
authors.affiliation: Department of Anesthesiology, Nagano Children's Hospital, Nagano 399-8205.
authors.forename: Kiyoko
authors.initials: K
authors.lastname: Sudou
authors.forename: Toru
authors.initials: T
authors.lastname: Shirotori
authors.forename: Takashi
authors.initials: T
authors.lastname: Ichino
authors.forename: Takeshi
authors.initials: T
authors.lastname: Yamada
authors.forename: Mari
authors.initials: M
authors.lastname: Inokuchi
authors.forename: Jun
authors.initials: J
authors.lastname: Ohata
mesh_terms: D000293:Adolescent; D000768:Anesthesia, General / Q000379:methods*; D003456:Cryptorchidism / Q000601:surgery; D006552:Hernia, Inguinal / Q000601:surgery; D006801:Humans; D017214:Laryngeal Masks; D008297:Male; D012086:Reoperation; D019082:Smith-Lemli-Opitz Syndrome; D013921:Thrombocytopenia / Q000150:complications*