Anaesthesia and orphan disease: management of cardiac and perioperative risks in a patient with Emery-Dreifuss muscular dystrophy.

摘要

Pena-Shokeir syndrome is a rare, autosomal recessive disorder first identified by Pena and Shokeir1 in 1974. It is characterised by foetal akinesia/hypokinesia, intrau-terine growth restriction, arthrogryposis (contractures of the joints), various cranio-facial anomalies (micrognathia, microphthalmia, cataracts or microcephaly), camptodac-tyly and pulmonary hypoplasia. These manifestations vary in severity, but are usually severe and death generally occurs during the neonatal period or soon thereafter as a result of respiratory or neurological complications. Some of these patients require anaesthesia for tracheotomy and for the corrections of the deformities if they are able to survive. We describe the anaesthetic and airway management of a child with Pena-Shokeir syndrome after we obtained consent from the patient's parents to publish this report.