EEG-alterations in patients with propionic acidemia

Introduction: Propionic acidemia is a congenital disorder resulting from a defect of propionyl-CoA-carboxylase. There is no study of frequency, type and possible reason for EEG-alterations in these patients.

Methods: We report nine patients with propionic acidemia and corresponding EEG findings.

Results: We found diffuse or focal slowing with or without epileptiform abnormalities. In 7 of 9 focal and generalized epileptiform activities were found. In addition, 3 patients showed a striking photosensitivity.

4 patients suffered from repeated seizures, 3 of them were treated with antiepileptic drugs.

We observed a varied seizure pattern: myoclonic seizures, absences und tonic-clonic seizures. In addition we found non-specific EEG-alterations. During metabolic derangement all alterations were accentuated. Two patients had normal EEG-recordings.

Conclusion: Electrophysiologic changes could be caused by several or one individual pathologic metabolite present in propionic acidemia and give reason for non-specific disarrangement of cerebral activity, as well as for epileptiform changes with and without cerebral seizures in these patients.

Keywords: EEG-alterations, epilepsy, propionic acidemia, photosensibiliy