Familial occurrence of myoclonic epilepsy syndrome and acute intermittent porphyria.

OBJECTIVES: Myoclonic epilepsy (ME) syndrome is not rare in north-eastern Europe; it is also seen in various forms. Familial occurrence of ME syndrome and acute intermittent porphyria (AIP) was observed in three siblings. The following report was aimed the differentiation between co-morbidity of two different disorders or presence the epileptic seizures within the clinical picture of latent AIP.

MATERIAL AND METHODS: A case report of three siblings who suffered from seizures, myoclonias, ataxia and minor psychological changes since the age of 8 and 9 years is described in the following report.

RESULTS: The clinical picture most resembled that of "Baltic myoclonus" (dentate-rubral degeneration or dyssynergia cerebellaris myoclonica -- Ramsay-Hunt syndrome) with epilepsy and/or a benign form of progressive myoclonic epilepsy (PME). The possibility of juvenile myoclonic epilepsy (JME) and other aetiological factors, as less probable causes of ME syndrome, were considered. After 15 years of the treatment by anti-epileptic drugs in all three siblings, AIP was discovered.

CONCLUSION: Our interest lies in the differentiation of co-morbidity of two different disorders or presence of epileptic seizures as the clinical picture of latent AIP. We propose that the AIP attacks were caused by long-term administration of anti-epileptic drugs. At the same time we suggest it is a coincidence that the two independent genetic abnormalities coexist in the subjects (benign form of degenerative cerebral disease and AIP).