General Anesthesia in a Patient with Infantile Pompe's Disease : A case report.
- Author:
Young Jae LEE
1
;
Woo Suk CHUNG
;
Jung Hyun LEE
;
Soo Chang SON
Author Information
1. Department of Anesthesiology and Pain Medicine, College of Medicine, Chungnam National University, Daejeon, Korea. scson@cnu.ac.kr
- Publication Type:Case Report
- Keywords:
anesthesia;
cardiomyopathy;
GSD II;
infantile;
Pompe's disease
- MeSH:
Anesthesia;
Anesthesia, General*;
Cardiomyopathies;
Enzyme Replacement Therapy;
Glucosidases;
Glycogen;
Glycogen Storage Disease Type II*;
Humans;
Infant;
Lysosomes;
Muscle, Skeletal;
Respiratory Physiological Phenomena;
Tracheostomy;
Ventilators, Mechanical
- From:Anesthesia and Pain Medicine
2006;1(2):124-128
- CountryRepublic of Korea
- Language:Korean
-
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.
