Esophageal Perforation in a Patient with Smith-Lemli-Opitz Syndrome

Author Info

Irim Salik Jasmeet Easwar

Corresponding Author

Irim Salik
Department of Pediatric Anaesthesiology, Westchester Medical Center, Valhalla, New York, USA

A B S T R A C T

Smith-Lemli-Opitz syndrome (SLOS) is a rare syndrome caused by an inborn error of cholesterol metabolism secondary to a deficiency in the 7-dehydrocholesterol (7-DHC) reductase enzyme leading to hypocholesterolemia. A broad spectrum of clinical manifestations can have significant surgical and anaesthetic implications. Patients exhibit growth retardation, microcephaly, congenital heart disease and moderate to severe intellectual disability. Distinctive facial features including micrognathia, cleft palate and prominent incisors can lead to difficult airway management [1]. We present the case of a 16-year-old female with SLOS who developed an esophageal perforation following esophageal foreign body retrieval. Anaesthetic and surgical considerations in a patient with SLOS are discussed.

Article Info

Article Type

Case Report

Publication history

Received: Thu 02, Jul 2020
Accepted: Mon 13, Jul 2020
Published: Mon 20, Jul 2020

Copyright

© 2023 Irim Salik. 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.IJSCR.2020.03.03