title: Familial occurrence of myoclonic epilepsy syndrome and acute intermittent porphyria.
abstract: OBJECTIVE
  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.
  
  
  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.
  
  
  CONCLUSIONS
  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).
authors.affiliation: 1st Department of Neurology Medical School, Comenius University, Bratislava, Slovak Republic. neurologia@faneba.sk
authors.forename: Pavel
authors.initials: P
authors.lastname: Varsik
authors.forename: Darina
authors.initials: D
authors.lastname: Buranová
authors.forename: Branislav
authors.initials: B
authors.lastname: Kollár
authors.forename: Pavel
authors.initials: P
authors.lastname: Traubner
authors.forename: Peter
authors.initials: P
authors.lastname: Bozek
authors.forename: Miroslav
authors.initials: M
authors.lastname: Mikulecký
mesh_terms: D000293:Adolescent; D000328:Adult; D000927:Anticonvulsants / Q000627:therapeutic use; D001921:Brain / Q000473:pathology; D002648:Child; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000150:complications* / Q000235:genetics / Q000473:pathology; D005260:Female; D006418:Heme / Q000627:therapeutic use; D006801:Humans; D011163:Hydroxymethylbilane Synthase / Q000235:genetics / Q000652:urine; D008297:Male; D017118:Porphyria, Acute Intermittent / Q000150:complications* / Q000235:genetics / Q000473:pathology; D011166:Porphyrins / Q000652:urine
chemical_list: D000927:Anticonvulsants; D011166:Porphyrins; D006418:Heme; D011163:Hydroxymethylbilane Synthase