Anesth Pain Med.  2006 Oct;1(2):124-128.

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

• Lee YJ
• Chung WS
• Lee JH
• Son SC

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.

Keyword

anesthesia; cardiomyopathy; GSD II; infantile; Pompe's disease

MeSH Terms

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
Glucosidases
Glycogen