Rhabdomyolysis in a Patient With a Possible Mitochondrial Pathogenic Variant in the Peri-operative Period: A Case...

Area of Science:

• Neurology
• Mitochondrial Medicine
• Genetics

Background:

• Mitochondrial disorders are frequently overlooked causes of rhabdomyolysis, a potentially life-threatening condition involving acute muscle breakdown.
• Rhabdomyolysis occurring as a peri-operative complication in patients with mitochondrial disorders is infrequently documented.

Observation:

• This study details a rare case of peri-operative rhabdomyolysis in a middle-aged male presenting with Charcot-Marie-Tooth (CMT) disease-like peripheral neuropathy.
• The patient experienced acute muscle breakdown during the peri-operative period.

Findings:

• Genetic analysis revealed the m.9176T>C (ATP6) mitochondrial pathogenic variant in the patient's maternal relatives, indicating a maternal inheritance pattern.
• This genetic finding strongly suggests the patient inherited the mitochondrial disorder.

Implications:

• This case underscores the importance of considering mitochondrial disorders in the differential diagnosis of unexplained rhabdomyolysis, particularly in the peri-operative setting.
• Recognizing this association can improve patient outcomes and guide appropriate genetic counseling and management strategies for affected families.