ANESTHESIA MANAGEMENT IN AN INFANT WITH GLYCOGEN STORAGE DISEASE TYPE II (POMPE DISEASE)

Area of Science:

• Cardiology
• Genetics
• Anesthesiology

Background:

• Pompe disease (Glycogen Storage Disease type II) is a genetic disorder impacting cardiac and skeletal muscles.
• Infantile forms historically led to early mortality from cardiorespiratory failure.
• Enzyme replacement therapy has improved outcomes, increasing the need for safe anesthesia.

Observation:

• Patients with Pompe disease exhibit unique cardiac physiology requiring specialized anesthetic considerations.
• Maximizing coronary perfusion pressure and minimizing arrhythmia risk are critical.
• Anesthetic agents must be chosen carefully to avoid compromising cardiovascular stability.

Findings:

• Propofol and high-concentration sevoflurane should be avoided in infantile Pompe disease anesthesia.
• Ketamine is recommended as a primary induction agent.
• Ketamine supports coronary perfusion pressure and prevents diastolic blood pressure reduction.

Implications:

• Safe general anesthesia for infantile Pompe disease is achievable with appropriate agent selection.
• Anesthetic protocols must prioritize cardiovascular stability.
• This approach can improve surgical outcomes for affected infants.