Abstract
A patient is presented who had therapy-resistant epileptic seizures from the 7th day of life. Examination at the age of 17 months revealed a mentally retarded boy with epileptic seizures, generalised myoclonic contractions, and abnormal ocular movements. A cerebral CT scan showed central and cortical atrophy. Lactate levels in serum, cerebrospinal fluid and urine were elevated, the pyruvate level was raised in serum. A quadriceps muscle biopsy revealed aspecific morphologic signs of a myopathy. Biochemical analysis showed decreased substrate oxidation rates in the mitochondria associated with low rates of ATP production. Total and free carnitine levels were decreased. Investigation of the respiratory chain revealed a defect in the proximal part of respiratory chain revealed a defect in the proximal part of respiratory chain involving the region of coenzyme Q. Based on clinical and chemical data it is likely that the patient is suffering from a multi-system disorder.
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Abbreviations
- EEG:
-
electroencephalogram
- CT:
-
computed tomography
- CSF:
-
cerebrospinal fluid
- Ap5A:
-
P′, P5-di(adenosine-5′-)pantaphosphate
- BSA:
-
bovine serum albumin
- CPT:
-
carnitine palmitoyltransferase
- SCC:
-
succinate: cytochrome c oxidoreductase
- SQ:
-
succinate:coenzyme Q oxidoreductase
- DCPIP:
-
2,6-dichlorophenol indophenol
References
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This investigation is part of the research program Disorders of the Neuromuscular System
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Fischer, J.C., Ruitenbeek, W., Gabreëls, F.J.M. et al. A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q. Eur J Pediatr 144, 441–444 (1986). https://doi.org/10.1007/BF00441735
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DOI: https://doi.org/10.1007/BF00441735