[A case of epilepsy with ring chromosome 20 syndrome]

A case of epilepsy associated with ring chromosome 20 [r(20)] syndrome was first reported in 1972. Relatively few cases of [r(20)] syndrome have been reported. We report here a middle-aged female with this syndrome. She had two types of seizures characterized by complex partial seizure with complex motor automatism mainly occurred while asleep and episodes of fluctuating consciousness (non-convulsive status epilepticus) lasting 40-60 min. The ictal electroencephalography (EEG) findings of the latter showed almost continuous diffuse spike and wave complexes or high voltage slow waves. The interictal EEG findings showed spike or sharp waves located in bilateral frontal regions or 3-6Hz diffuse high voltage slow waves intermingled with spikes in left posterior areas. We reviewed and discussed the characteristics of [r(20)] syndrome reported in the literature, intractable seizures, behavioral problems and some degree of mental retardation or dysmorphism, especially variable EEG findings characterized this syndrome.