Progression despite replacement of a myopathic form of coenzyme Q10 defect.
case_report · Level V
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Abstract
The authors report 7 years of follow-up evaluation of a patient with coenzyme Q10 (CoQ10) deficiency. Initial symptoms of exercise intolerance and hyperlactatemia improved markedly with substitutive treatment. However, CoQ(10) supplementation did not prevent the onset of a cerebellar syndrome. A switch to idebenone treatment resulted in clinical and metabolic worsening, which disappeared with subsequent CoQ10 treatment. CoQ10 defects may cause progressive neurologic disease despite supplementation.
Medical subject headings
- Cerebellar Ataxia
- Exercise Tolerance
- Lactates
- Mitochondrial Myopathies
- Ubiquinone