Perioperative management of a child with glycogen storage disease type III undergoing cardiopulmonary bypass and repair of an atrial septal defect.

Abstract

The glycogen storage diseases (GSD) are a heterogenous group of inherited disorders involving one of the several steps of glycogen synthesis or degradation. Type III GSD, also known as Cori's or Forbe's disease, results from a deficiency of the enzyme, amylo-1,6-glucosidase, which is responsible for the breakdown or debranching of the glycogen molecule during catabolism. As a result of this deficiency, inadequate glycogen breakdown occurs, resulting in hypoglycaemia during periods of fasting or stress, as well as storage of excessive glycogen, predominantly in the liver. Glycogen accumulation in the liver leads to hepatogmegaly and, in some instances, hepatic dysfunction with cirrhosis in the third and fourth decades of life. Additionally, deficiency of the enzyme in skeletal and cardiac muscle can lead to skeletal muscle weakness and cardiomyopathy. We present a 28-month-old girl who presented for anaesthetic care for cardiopulmonary bypass and closure of an atrial septal defect. The potential perioperative implications of GSD type III are discussed.

• Authors: David Mohart, Pierantonio Russo, Joseph D Tobias
• Journal: Paediatric anaesthesia (Paediatr Anaesth) Vol. 12 Issue 7 Pg. 649-54 (Sep 2002) ISSN: 1155-5645 [Print] France
• PMID: 12358666 (Publication Type: Case Reports, Journal Article)

Topics

• Anesthesia (methods)
• Cardiopulmonary Bypass
• Child, Preschool
• Female
• Glycogen Storage Disease Type III (complications, pathology)
• Heart Septal Defects, Atrial (complications, surgery)
• Humans
• Intubation, Intratracheal (methods)
• Macroglossia (complications)