Trisomy 12p: Report of two cases with epilepsy

Trisomy 12p can results from a familiar translocation or can originate 'de novo'. 24 cases have so far been reported in the literature. Seizures and/or EEG studies are mentioned only in a minority of cases (10 out of 24), and in all of these as a minor detail: febrile seizures, generalized seizures during acute brain damage. Epilepsy has never been reported in this recognizable pattern of human malformation. We report here the occurrence of epilepsy in two cases of trisomy 12p syndrome. Patient 1 is a new case, the 3rd 'de novo' and the 25th in the literature; patient 2 (already reported in 1978, prior to the onset of epilepsy) is due to a maternal reciprocal translocation. The presence, in both our patients, of a generalized epilepsy with myoclonic jerks, responsive to the usual antiepileptic drug therapy, accompanied by an ictal EEG pattern of 3Hz spike/wave and polyspike/wave, may suggest the possibility that epilepsy be associated with this disorder.