Rare epileptic syndrome of ring chromosome 20 with epileptic encephalopathy: a case report.
The authors report the clinical features, electroencephalography (EEG), neuroimaging (brain magnetic resonance image-MRI), and cytogenetic findings of a young female patient with rare cytogenetic anomalies characterized by de novo 46, XX, r (20) (p13q13.3). The patient had a history of mild mental retardation, emotional liability and intractable epilepsy with non-convulsive status epilepticus. The MRI brain showed focal cerebral dysplasia over the left temporal region. The multiple seizures were refractory to antiepileptic medications and prolonged, confused state with or without a motor component. The continuous video-EEG monitor showed epileptiform discharges over bilateral frontal regions with frontal origin. The symptoms were relieved after midazolam infusion. A patient who was present with intractable epilepsy with continuous frontal epileptiform discharges, mental retardation, abnormal behavior, without dysmorphic features should be suspected of chromosomal abnormalities especially ring chromosome 20.
Thanin
T
Wechapinan
Somjit
S
Sri-Udomkajorn
Sirorat
S
Suwannachote
D000927:Anticonvulsants; D001921:Brain / Q000473:pathology; D002648:Child; D002890:Chromosomes, Human, Pair 20; D004569:Electroencephalography; D004827:Epilepsy / Q000150:complications* / Q000175:diagnosis*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D012303:Ring Chromosomes; D012640:Seizures / Q000150:complications* / Q000175:diagnosis*; D013226:Status Epilepticus / Q000150:complications* / Q000175:diagnosis*; D013577:Syndrome; D013702:Temporal Lobe / Q000473:pathology
D000927:Anticonvulsants