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

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Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle
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Joyce Kam1, Rabiu Momoh1

  • 1Critical Care Medicine, Medway Maritime Hospital, Gillingham, GBR.

Cureus
|December 16, 2024
PubMed

Insights

Mitochondrial disorders can cause rhabdomyolysis, a serious muscle breakdown condition. This case highlights peri-operative rhabdomyolysis in a patient with Charcot-Marie-Tooth disease, linked to a mitochondrial ATP6 variant.

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.
Keywords:
compartment syndromecreatine kinasedialysisgenetic disordershyperkalemiam.9176t>c (atp6) mitochondrial pathogenic variantmaternal inheritancemitochondrial disorderrenal failurerhabdomyolysis

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