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.

Kyphoscoliosis associated with congenital neuromuscular disease with uniform type 1 fibers

“…Since inhalation anesthetics and depolarizing muscle relaxants can induce MH [29], these agents were not used in our patient. Similarly to a case report describing the use of general anesthesia in cranioplasty in a CNMDU1 patient [30], we carefully chose agents for general anesthesia and avoided the onset of MH and prolonged anesthesia due to muscle relaxants. For a patient with a history of MH, a provocation test may also be useful.…”