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Coenzyme Q-responsive Leigh's encephalopathy in two sisters
Lionel Van Maldergem1, Frans Trijbels, Salvatore DiMauro
1Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Allée des Templiers 41, B-6280 Loverval, Belgium. vmalde@skypro.be
Annals of Neurology
|November 26, 2002
Summary
Primary coenzyme Q10 deficiency can manifest as adult Leigh syndrome, presenting with neurological and developmental issues. Supplementation with coenzyme Q10 significantly improved a patient's severe symptoms, including neurological deficits and growth failure.
Area of Science:
- Biochemistry
- Neurology
- Genetics
Background:
- Primary coenzyme Q10 deficiency is a rare inherited metabolic disorder.
- It typically presents in childhood with severe neurological and systemic manifestations.
- Adult-onset presentations are less common and may be misdiagnosed.
Observation:
- A 31-year-old woman presented with encephalopathy, growth retardation, ataxia, deafness, and lactic acidosis.
- Brain MRI revealed increased signals in the caudate and putamen.
- Muscle biopsy showed succinate:cytochrome c oxidoreductase (complex II-III) deficiency.
Findings:
- Coenzyme Q10 levels were markedly decreased in cerebrospinal fluid, muscle, lymphoblasts, and fibroblasts.
- The patient showed remarkable clinical and biochemical improvement with coenzyme Q10 supplementation (300mg/day).
- Improvements included regained ambulation, weight gain, onset of puberty, and significant growth (20cm).
Implications:
- This case suggests that primary coenzyme Q10 deficiency can present as adult Leigh syndrome.
- Early diagnosis and coenzyme Q10 supplementation may reverse or halt disease progression.
- Highlights the importance of considering mitochondrial disorders in adult-onset neurological conditions.