TY - JOUR
AR - SCR-2020-12-114
TI - Perioperative Concerns For An Infant with Stuve-Wiedemann Syndrome: A Case Report
AU - Christopher , J. Mariani
AU - Gennadiy , Fuzaylov
JO - Surgical Case Reports
PY - 2020
DA - Mon 21, Dec 2020
SN - 2613-5965
DO - http://dx.doi.org/10.31487/j.SCR.2020.12.14
UR - https://www.sciencerepository.org/perioperative-concerns-for-an-infant-with-stuve-wiedemann-syndrome_SCR-2020-12-114 
KW - Stuve-Wiedemann syndrome, anaesthesia, malignant hyperthermia, schwartz-jampel syndrome
AB - 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.