article = {SCR-2020-12-114}
title = {Perioperative Concerns For An Infant with Stuve-Wiedemann Syndrome: A Case Report}
journal = {Surgical Case Reports}
year = {2020}
issn = {2613-5965}
doi = {http://dx.doi.org/10.31487/j.SCR.2020.12.14}
url = {https://www.sciencerepository.org/perioperative-concerns-for-an-infant-with-stuve-wiedemann-syndrome_SCR-2020-12-114 
author = {Christopher  J. Mariani,Gennadiy  Fuzaylov,}
keywords = {Stuve-Wiedemann syndrome, anaesthesia, malignant hyperthermia, schwartz-jampel syndrome}
abstract ={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.
}