Abstract
A boy was admitted at the age of 5 months with convulsions, irritability, dullness and hypotonia. Developmental age was about 2 months. He also showed hyperventilation from birth on. His parents were unrelated. Gestational age was 37 wks and birthweight 2.5kg. There was no peripartal asphyxia. Antiepileptic therapy could not completely control the convulsions. Plasma alanine and blood pyruvate and lactate levels were normal, also after glucose loading, but CSF alanine (48 μmol/L;nl<30), pyruvate (0.9mmol/L;nl< 0,15) and lactate (10mmol/L; nl< 1.5) were markedly increased. Amino acid and organic acid analysis was otherwise normal. Protidorhachia, funduscopy, EMG, nerve conduction velocity, EEG, brain evoked responses and CAT-scan of the brain were normal. Peroral thiamine (3×100mg/day) caused a striking clinical improvement and complete biochemical normalisation within a few days. Antiepileptic therapy could be discontinued. Thiamine therapy was stopped after two months. Symptomatology has not returned now six months after discontinuation and psychomotor development is satisfactory. Conclusion : this patient suffered from a defect of pyruvate oxidation (probably pyruvate dehydrogenase) limited to brain. Temporary thiamine therapy apparently cured this defect that is tentatively attributed to "immaturity". The finding of normal CSF thiamine levels before therapy excludes thiamine deficiency.
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Jaeken, J., Casaer, P., Corbeel, L. et al. Selective increase of CSF lactate and pyruvate,and persistent normalisation aftertemporary thiamine therapy. Pediatr Res 18, 796 (1984). https://doi.org/10.1203/00006450-198408000-00032
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DOI: https://doi.org/10.1203/00006450-198408000-00032