Kamoun Fatma F, Ellouz Emna J, Hsairi Ines G, Triki Chahnez C
Research Unit of Neuropediatrics, Department of Child Neurology, Hedi Chaker Hospital, Sfax University, Sfax, Tunisia.
Neurosciences (Riyadh). 2012 Jan;17(1):74-7.
The ring chromosome 20 syndrome is a rare syndrome characterized by intractable epilepsy with particular electro clinical features including episodes of prolonged confusional state and nocturnal frontal lobe seizures. We report a 17-year-old girl who had intractable epilepsy with frontal seizure and prolonged confusional state secondary to non-convulsive status epilepticus. The diagnosis of ring chromosome 20 was suspected and confirmed by karyotype. The cytogenetic study of CHRNA4 and KCNQ2 genes did not detect deletion in the ring chromosome 20. During video-EEG recording, this girl presented a non-convulsive status epilepticus that lasted more than 20 minutes followed by typical frontal lobe seizure. This association was not previously described, and was probably caused by chromosomal instability.
环形染色体20综合征是一种罕见的综合征，其特征为顽固性癫痫，具有特定的电临床特征，包括长时间意识模糊状态发作和夜间额叶癫痫发作。我们报告一名17岁女孩，她患有顽固性癫痫，继发于非惊厥性癫痫持续状态，表现为额叶癫痫发作和长时间意识模糊状态。环形染色体20的诊断通过核型分析被怀疑并得到证实。对CHRNA4和KCNQ2基因的细胞遗传学研究未检测到环形染色体20的缺失。在视频脑电图记录期间，该女孩出现了持续超过20分钟的非惊厥性癫痫持续状态，随后是典型的额叶癫痫发作。这种关联以前未被描述过，可能是由染色体不稳定性引起的。
