Sugammadex and Genaral Anesthesia in Two Pediatric Patients with Joubert Syndrome: Case Report

Abstract

Joubert syndrome (JS) is a rare genetic disorder that affects the cerebellum, controlling balance, and coordination, and it usually presents a molar tooth sign on magnetic resonance imaging. It is characterized by ataxia, an abnormal breathing pattern referred to as hyperpnea, sleep apnea, hypotonia, and abnormal eye and tongue movements. Because of sensitivity to respiratory depressant agents, including opiates, nitrous oxide, and neuromuscular blockers, and potential difficult airways, anesthetic management requires attention. Sugammadex binds to rocuronium and is a reverse neuromuscular blocker. In this study, two cases of JS where sugammadex was used for general anesthesia are presented. Sugammadex may be a safe general anesthetic for patients with JS.

Anesthesia management in Joubert Syndrome: a Case Report

“…It is seen in the neonatal period, as a complicated disease with respiratory abnormalities characterized by tachypnea-apnea episodes and cerebellar vermis disorders, and occasionally accompanied by cardiac, renal and ocular disorders [2][3][4][5]. In the current case, in addition to cardiac and renal pathologies in the prenatal period, there was a history of neonatal intensive care unit hospitalization due to hypotonia and respiratory defects.…”

“…Joubert syndrome (JS) was first described by Marie Joubert, a pediatric neurologist in Montreal in 1969 [2][3][4][5][6]. It is now known that JS is due to structural and/or functional impairment of primary silica [7].…”

“…General anesthesia was maintained with thiopentone, N2O, O2, isoflurane, and many apneic episodes were experienced by the patient which persisted for several hours [8]. Patients with Joubert syndrome may be susceptible to respiratory depression with anesthetic agents (especially opioids and neuromuscular blocking drugs) [2][3][4][5][6][7][8][9]. It has been emphasized in literature that muscle relaxants and opioids should be avoided in the anesthesia management of this syndrome.…”

“…The ease of use of muscle relaxants was due to having a strong antidote. Sugammadex is an agent used in the reversal of muscle relaxation with some non-depolarizing neuromuscular blocking drugs [4]. Its effect is shown by binding and removing vecuronium and rocuronium from the plasma and as it binds to rocuronium at a ratio of 1:1, it is rapidly eliminated [4].…”

“…Axial cranial MR images of patients with Joubert syndrome show a molar tooth appearance and a bat wing appearance on axial and coronal cranial sections [3]. These patients may be susceptible to respiratory depression with anesthetic agents (especially opioids and neuromuscular blockade agents) [2][3][4][5] The anesthesia management is presented here of a 5-year-old girl with Joubert Syndrome who underwent general anesthesia for surgery to a supracondylar humerus fracture.…”