Genetically Confirmed Malignant Hyperthermia in a Six-Week-Old Infant: A Case Report.

Area of Science:

• Anesthesiology
• Pediatric Surgery
• Genetics

Background:

• Malignant hyperthermia (MH) is a rare, life-threatening pharmacogenetic disorder of skeletal muscle.
• Early diagnosis and management are critical, especially in pediatric populations.

Observation:

• A six-week-old infant developed rigidity, hypercarbia, tachycardia, and hyperthermia during anesthesia.
• Symptoms resolved upon sevoflurane discontinuation, suggesting MH.
• The infant and father carried a known RYR1 gene mutation.

Findings:

• This case represents the second youngest genetically confirmed MH diagnosis.
• The RYR1 gene mutation was identified as the cause of MH in this infant.
• Clinical presentation of MH in neonates and infants can be subtle.

Implications:

• This case underscores the need for vigilance in recognizing MH in neonates and infants.
• Genetic testing is crucial for confirming MH diagnosis and family screening.
• Further research is needed to understand MH presentation and management in very young patients.