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

Author Info

Christopher J. Mariani Gennadiy Fuzaylov

Corresponding Author

Christopher J. Mariani
Department of Anesthesia, Critical Care and Pain Medicine, Massachusetts General Hospital, Boston, Massachusetts, USA

A B S T R A C T

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.

Article Info

Article Type

Case Report

Publication history

Received: Wed 18, Nov 2020
Accepted: Fri 04, Dec 2020
Published: Mon 21, Dec 2020

Copyright

© 2023 Christopher J. Mariani. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Hosting by Science Repository.
DOI: 10.31487/j.SCR.2020.12.14