General Anesthesia in a Patient with Infantile Pompe's Disease : A case report

Lee, Young Jae; Chung, Woo Suk; Lee, Jung Hyun; Son, Soo Chang

Case Report

Obstetric Anesthesia

Anesthesia and Pain Medicine 2006;1(2):120-123.
Published online October 30, 2006.

General Anesthesia in a Patient with Infantile Pompe's Disease : A case report

Young Jae Lee, Woo Suk Chung, Jung Hyun Lee, Soo Chang Son

Department of Anesthesiology and Pain Medicine, College of Medicine, Chungnam National University, Daejeon, Korea. scson@cnu.ac.kr

Abstract

Pompe's disease (type II glycogen storage disease) is an autosomalrecessive disorder caused by a deficiency of lysosomal acid alpha- glucosidase (GAA) leading to the accumulation of glycogen in the lysosomes primarily in cardiac and skeletal muscle. Recently a promising enzyme replacement therapy has resulted in improved clinical outcomes and a resurgence of elective anesthesia for these patients. The anesthetic management of infant with Pompe's disease presents a variety of challenges. Therefore, understanding the unique cardiac and respiratory physiology is essential to providing safe general anesthesia. We report a case of patient with infantile-onset Pompe's disease who underwent a tracheostomy for a ventilator care.

Key Words: anesthesia, cardiomyopathy, GSD II, infantile, Pompe's disease