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Recurrent loss of consciousness in mitochondrial disease can stem from arrhythmias, seizures, or autonomic neuropathy. Effective treatment for these conditions resolved the patient's symptoms.

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Area of Science:

  • Neurology
  • Cardiology
  • Genetics

Background:

  • Mitochondrial diseases are complex genetic disorders affecting multiple organ systems.
  • Loss of consciousness (LOC) in mitochondrial disease can be challenging to diagnose, with potential cardiac or neurological origins.
  • This case highlights the diagnostic difficulties and multifaceted nature of LOC in mitochondrial disorders.

Observation:

  • A 67-year-old male with multiple comorbidities presented with recurrent LOC.
  • Diagnostic workup revealed supraventricular arrhythmias, polyneuropathy, and later, tonic-clonic seizures.
  • Electrocardiography demonstrated LOC associated with supraventricular tachycardias, epileptic activity, or hypotension.

Findings:

  • Neurological investigations and muscle biopsy confirmed mitochondrial disease with multisystem involvement.
  • Recurrent LOC was attributed to a combination of arrhythmias, seizures, and autonomic neuropathy.
  • Treatment with catheter ablation and levetiracetam successfully resolved the episodes of LOC.

Implications:

  • This case underscores that LOC in mitochondrial disease can arise from various underlying mechanisms, not solely arrhythmias.
  • It emphasizes the importance of comprehensive diagnostic evaluation to identify seizures and autonomic dysfunction as potential causes.
  • Integrated treatment addressing cardiac, neurological, and autonomic components is crucial for managing LOC in mitochondrial disorders.