Consequences of misdiagnosing mitochondrial disorder

Int J Neurosci. 2006 Aug;116(8):907-14. doi: 10.1080/00207450600550253.

Abstract

Diagnosing mitochondrial disorder remains a challenge. In a 75-year-old women, with short stature, muscle cramps, ptosis, fasciculations and progressive, proximal limb weakness and wasting, hyponatriemia, abnormal lactate-stress-test, and slightly abnormal electromyography, muscle biopsy suggested granulomatous myositis. Corticosteroids and azathioprin were ineffective. After a second work-up amyotrophic-lateral-sclerosis was diagnosed. Riluzole was started, without effect. She developed respiratory insufficiency, requiring mechanical ventilation. Apical ballooning was found. After switching to non-invasive positive pressure ventilation and physiotherapy, she markedly improved. After a third diagnostic work-up, mitochondrial disorder was suspected. Unfortunately, she died suddenly from a cardiac arrhythmia at home. Mitochondrial disorder may mimic motor neuron disease, muscle biopsy may mimic myositis, and may show only little evidence for respiratory chain disorder.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Amyotrophic Lateral Sclerosis / diagnosis
  • Diagnosis, Differential
  • Female
  • Humans
  • Mitochondrial Diseases / diagnosis*
  • Mitochondrial Diseases / drug therapy
  • Mitochondrial Diseases / physiopathology
  • Positive-Pressure Respiration / methods
  • Respiratory Insufficiency / diagnosis
  • Respiratory Insufficiency / etiology*
  • Respiratory Insufficiency / therapy