title: Anesthetic case in a child with congenital neuromuscular disease with uniform type 1 fibers (CNMDU1).
abstract: Congenital neuromuscular disease with uniform type 1 fibers (CNMDU1) is an extremely rare, non-progressive, congenital neuromuscular disorder. Although the etiology is unknown, ryanodine receptor gene mutation is reportedly involved. No descriptions of anesthetic practice in patients with this disease have been reported around the world. We report a case of safe perioperative management with general anesthesia, using total intravenous anesthesia, propofol, fentanyl and a non-depolarizing muscle relaxant but avoiding the use of any inhaled anesthetics or depolarizing muscle relaxants to prevent malignant hyperthermia and postoperative respiratory failure, during anesthetic management for cranioplasty for premature synostosis of the cranial sutures in a pediatric patient of CNMDU1.
authors.affiliation: Department of Anesthesiology, Osaka City General Hospital and Children's Hospital, 2-13-22 Miyakojima-hondori, Miyakojima-ku, Osaka, Osaka 534-0021, Japan. ryu0909@kcat.zaq.ne.jp
authors.forename: Ryu
authors.initials: R
authors.lastname: Okutani
authors.forename: Daisuke
authors.initials: D
authors.lastname: Arashi
authors.forename: Kenji
authors.initials: K
authors.lastname: Tsujii
mesh_terms: D000768:Anesthesia, General; D000771:Anesthesia, Intravenous; D018686:Anesthetics, Intravenous; D005283:Fentanyl; D006801:Humans; D006974:Hypertension, Malignant / Q000517:prevention & control; D007223:Infant; D008297:Male; D018657:Muscle Fibers, Slow-Twitch / Q000473:pathology*; D009468:Neuromuscular Diseases / Q000150:complications* / Q000473:pathology*; D003473:Neuromuscular Nondepolarizing Agents; D015742:Propofol; D013577:Syndrome; D013580:Synostosis / Q000601:surgery
chemical_list: D018686:Anesthetics, Intravenous; D003473:Neuromuscular Nondepolarizing Agents; D005283:Fentanyl; D015742:Propofol