Anaesthetic management of a child with Pallister–Killian syndrome

Abstract

Pallister-Killian syndrome is characterized by tetrasomy of the short arm of chromosome 12p, which produces mental retardation of varying degrees and dysmorphic characteristics. We describe anaesthesia in a 2-year-old child affected by this syndrome who underwent surgery for orchidopexy. Anaesthetic consisted of an inhalation mixture of O2, N2O and sevoflurane, together with an inguinal block with ropivacaine and administration of alfentanil plus ketorolac. Tracheal intubation was uneventful. No complications of any type were observed.

Pallister-Killian syndrome: a report of 2 cases and review of its surgical aspects

“…Omphalocele was diagnosed in one aborted fetus and one newborn only [1,5,9,10]. Seven patients with PKS were found to have bilateral or unilateral cryptorchidism [6,7,9,10,20,23]. One patient from this group was operated on, and the anesthetic aspects of this procedure were a subject of a separate case report [22].…”

Anesthesia for orthopedic surgery in Pallister‐Killian syndrome

“…The disorder in older children and young adults is characterized by a coarse and flat facies, macroglossia, prognathia, everted lower lip, epileptic seizures, and severe psychomotor retardation with muscular hypotonia or hypertonia and contractures (1,2). Until now, only three reports on the anesthetic management of patients suffering from Pallister‐Killian syndrome have been published (3–5). Takeuchi et al.…”

“…Iacobucci et al. (4) described anesthesia in a 2‐year‐old child affected by PKS who underwent surgery for orchidopexy. Anesthesia consisted of a combination of O 2 , N 2 O, sevoflurane, alfentanil and ketorolac, and an inguinal block with ropivacaine.…”

“…Operations associated with an increased incidence of MH include orthopedic surgery (joint‐dislocation repair) (6). Current literature considers general inhalational anesthesia to be safe in patients with PKS (4,5). However, previously uneventful anesthesia and absence of a positive family history are unreliable predictors of susceptibility to MH (6).…”

“…However, previously uneventful anesthesia and absence of a positive family history are unreliable predictors of susceptibility to MH (6). Despite uneventful repeat administrations of inhalational anesthetics in patients with PKS (4,5), total intravenous anesthesia with propofol is a safe alternative to prevent the possible risk of development of MH in these patients. Different PKS phenotypes with macroglossia, prognathism, craniofacial anomalies, laryngeal malformations, and short neck may contribute to difficult ventilation by mask and/or difficult intubation (1,2).…”