Perioperative Concerns For An Infant with Stuve-Wiedemann Syndrome: A Case Report

Stuve-Wiedmann syndrome (SWS) is a rare autosomal recessive genetic disorder associated with skeletal abnormalities and dysautonomia, including hyperthermia. There are few reported anaesthetics of SWS patients. As a result, little is known about anaesthetic care for these patients. We report a case of SWS that was confirmed by identification of a disease-causing mutation in the LIFR gene. We discuss anaesthetic challenges associated with management of these patients, especially as it pertains to the historical association between SWS and malignant hyperthermia. We recommend a conservative approach to management of these patients given their propensity for fevers and the variable penetrance of the malignant hyperthermia phenotype when found in association with other genetic variations.