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[Mitochondrial encephalopathy due to complex I deficiency. Brain tissue biopsy findings and clinical course following pharmacological].

AbstractINTRODUCTION:
Mitochondrial encephalomyopathies belong to a heterogeneous group of diseases with a range of neurological symptoms caused by a dysfunction somewhere in the nervous system. They may arise from mutations of the mitochondrial DNA or nuclear DNA in the genes that code for the subunits of the respiratory chain. The results obtained from using different drugs to treat these diseases vary widely.
CASE REPORT:
A 33-year-old female with a history of migraine with aura, who was admitted to hospital because of epileptic seizures. Neuroimaging tests showed left-side occipital insult and a biopsy study of a sample of brain tissue revealed gliosis and vacuolisation of the white matter. Lactic acid levels in blood were normal. No ragged red fibres were seen in the muscle biopsy, but there was evidence of a complex I deficiency in the respiratory chain. After establishing treatment with coenzyme Q and riboflavin, the patient had no further episodes of neurological disorders.
CONCLUSIONS:
The absence of elevated levels of lactate, ragged red fibres in the muscle biopsy or the negative results for mutations in the genetic study do not rule out the possible existence of a mitochondrial disease. The gliosis and vacuolisation of the white matter with respect to the neurons that were found in the results of the brain tissue biopsy must lead us to consider a mitochondrial disease.
AuthorsP E Jiménez-Caballero, M Mollejo-Villanueva, A Alvarez-Tejerina
JournalRevista de neurologia (Rev Neurol) 2008 Jul 1-15 Vol. 47 Issue 1 Pg. 27-30 ISSN: 1576-6578 [Electronic] Spain
Vernacular TitleEncefalopatia mitocondrial por deficit del complejo I. Hallazgos en la biopsia cerebral y evolucion clinica tras tratamiento farmacologico.
PMID18592477 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Micronutrients
  • Vitamin B Complex
  • Ubiquinone
  • Electron Transport Complex I
  • Riboflavin
Topics
  • Adult
  • Biopsy
  • Brain (pathology)
  • Electron Transport Complex I (deficiency)
  • Female
  • Humans
  • Micronutrients (therapeutic use)
  • Mitochondrial Encephalomyopathies (drug therapy, etiology, pathology)
  • Riboflavin (therapeutic use)
  • Ubiquinone (therapeutic use)
  • Vitamin B Complex (therapeutic use)

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