Related Experiment Video

Updated: Jun 25, 2026

Robot-Assisted Laparoscopic Splenectomy In Children: A Case Report with Literature Review
05:06

Robot-Assisted Laparoscopic Splenectomy In Children: A Case Report with Literature Review

Published on: March 27, 2026

[A case report of anesthesia for a child with Pompe's disease (glycogen storage disease type II)]

Michiko Sakakibara1, Yuzo Teramoto, Tadashi Aoyama

  • 1Department of Anesthesiology, Toyohashi Municipal Hospital, Toyohashi 441-8570.

Masui. the Japanese Journal of Anesthesiology
|February 21, 2009
PubMed

Insights

This case report details anesthetic management for an infant with Pompe disease, a rare genetic disorder causing muscle weakness. Improved enzyme replacement therapy means more infants with Pompe disease will need anesthesia.

Area of Science:

  • Pediatric Anesthesiology
  • Rare Genetic Disorders
  • Metabolic Myopathies

Background:

  • Pompe disease (glycogen storage disease type II) causes progressive glycogen infiltration in cardiac and skeletal muscles.
  • This leads to severe cardiomyopathy and respiratory muscle weakness, often fatal by one year of age.
  • Anesthetic management poses significant challenges due to these critical physiological impairments.

Observation:

  • A 6-month-old female infant with Pompe disease presented with cardiac failure.
  • She underwent two general anesthetic procedures: central venous catheter placement and tracheotomy.
  • Anesthetic techniques involved ketamine, midazolam, nitrous oxide, sevoflurane, dopamine, and olprinone to support circulation and respiration.

Findings:

  • The case highlights the complexities of providing anesthesia for infants with Pompe disease.
  • Careful titration of anesthetic agents and cardiovascular support (dopamine, olprinone) was crucial.
  • Successful management required a multidisciplinary approach considering the patient's severe cardiomyopathy and respiratory compromise.

Implications:

  • Enzyme replacement therapy is improving outcomes for Pompe disease patients.
  • An increasing number of infants with Pompe disease will require surgical and anesthetic interventions.
  • This case underscores the need for specialized anesthetic protocols for managing pediatric patients with Pompe disease.

Related Concept Videos

Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
Pyloric Obstruction01:11

Pyloric Obstruction

Pyloric obstruction, also referred to as gastric outlet obstruction, is a condition characterized by narrowing or blockage at the pylorus—the muscular valve regulating the flow of stomach contents into the duodenum. When this passage becomes impaired, the stomach cannot effectively empty its contents into the small intestine. This disruption leads to a range of gastrointestinal symptoms, including early satiety, bloating, epigastric pain, postprandial nausea, persistent vomiting, and...
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
Diabetic Ketoacidosis l: Introduction01:25

Diabetic Ketoacidosis l: Introduction

DefinitionDiabetic ketoacidosis (DKA) is an acute, life-threatening complication of diabetes mellitus, characterized by a triad of hyperglycemia (blood glucose >250 mg/dL), ketonemia or ketonuria, and metabolic acidosis (arterial pH <7.30 and serum bicarbonate <18 mEq/L). It results from insulin deficiency combined with elevated levels of counterregulatory hormones—glucagon, catecholamines, cortisol, and growth hormone—leading to increased lipolysis, hepatic ketone production, and...
Hyperosmolar Hyperglycemic State01:21

Hyperosmolar Hyperglycemic State

Hyperosmolar Hyperglycemic State, or HHS, is a serious and life-threatening complication of type 2 diabetes mellitus. It is characterized by three main features: severe hyperglycemia, profound dehydration, and elevated serum osmolality, all occurring without significant ketoacidosis.HHS typically develops in older adults or individuals with limited access to fluids. This may result from illness, cognitive impairment, or medications such as diuretics or corticosteroids. These factors reduce...
Diabetic Ketoacidosis ll: Pathophysiology01:22

Diabetic Ketoacidosis ll: Pathophysiology

Diabetic ketoacidosis (DKA) is a metabolic emergency characterized by hyperglycemia, ketonemia, and metabolic acidosis. It results from severe insulin deficiency and an excess of counterregulatory hormones, leading to uncontrolled lipolysis, ketogenesis, and widespread electrolyte and fluid disturbances.Pathophysiology The central event in DKA is a profound loss of insulin action. Without insulin, glucose uptake in insulin-dependent tissues is impaired, while hepatic glucose production...