[Malignant hyperthermia. A case with minimal manifestations].

Area of Science:

• Anesthesiology
• Pharmacology
• Genetics

Background:

• Malignant hyperthermia (MH) is a severe pharmacogenetic disorder of skeletal muscle.
• It is triggered by volatile anesthetics and succinylcholine in susceptible individuals.
• Early recognition and management are crucial for patient survival.

Observation:

• A patient developed clinical symptoms consistent with MH after undergoing anesthesia.
• Post-operative enzymatic alterations were noted, prompting further investigation.
• The patient was referred to the University of Padua for specialized testing.

Findings:

• Muscle biopsy was performed to assess muscle integrity and cellular changes.
• The caffeine contracture test, a gold standard for MH diagnosis, was conducted.
• Diagnostic tests confirmed the initial clinical suspicion of malignant hyperthermia.

Implications:

• This case highlights the importance of recognizing MH symptoms in the perioperative period.
• Accurate diagnosis through muscle biopsy and contracture testing is essential for MH confirmation.
• Confirmation of MH allows for appropriate management strategies and genetic counseling for affected families.