Acute Rhabdomyolysis in a Child with Multiple Suspicious Gene Variants

Area of Science:

• Pediatric Critical Care Medicine
• Nephrology
• Neurology

Background:

• Rhabdomyolysis, characterized by elevated creatinine kinase (CK), can lead to severe complications like acute kidney injury and electrolyte imbalances.
• Pediatric rhabdomyolysis, especially severe cases, requires prompt and aggressive management to prevent life-threatening outcomes.

Observation:

• A 13-month-old child presented with extreme hyperthermia and a CK level of 82,090 U/L, with a history of prematurity, dystonia, and recurrent rhabdomyolysis.
• Despite initial treatments, the child's CK peaked at 145,920 U/L, complicated by pulmonary edema requiring mechanical ventilation and neuromuscular blockade for uncontrolled dystonia.

Findings:

• Aggressive interventions, including sedative infusions, forced alkaline diuresis, and neuromuscular blockade, led to CK normalization over one month.
• The patient recovered fully, avoiding renal replacement therapy despite a nadir estimated glomerular filtration rate of 21 mL/min/1.73 m².
• Although the child recovered from this episode, he later died from septic and cardiogenic shock two years later.

Implications:

• This case underscores the critical importance of prompt recognition and aggressive, multi-faceted management strategies for severe pediatric rhabdomyolysis.
• The need for evidence-based guidelines for managing pediatric rhabdomyolysis, particularly in cases associated with hyperthermia and dystonia, is highlighted.
• Early identification of underlying causes and triggering events is crucial for effective rhabdomyolysis treatment and long-term outcomes.