Case report of sudden death in a child with Williams syndrome following administration of anaesthesia

Abstract

Williams syndrome is a neurodevelopmental disorder characterized by distinctive personality traits, facial features (so called “elfin face”) and cardiac abnormalities, of which supravalvular aortic stenosis is the most common lesion found. The cause is a deletion of a group of genes on chromosome 7q11.23. Administration of anaesthesia to these patients carries a higher risk for sudden death due to the cardiac defects. The purpose of this case study is to demonstrate the entity in the South African population, to review the literature, to put emphasis on the multi-disciplinary approach in the pre-operative management, and to review the medico-legal investigation of intra-operative deaths. Furthermore, administration of anaesthesia in the remote location and to syndromic children will also be discussed.