患脑室周围结节性异位症和癫痫的男性同卵双胞胎。
Male monozygotic twins discordant for periventricular nodular heterotopia and epilepsy.
作者信息
Sisodiya S M, Marques W, Everitt A, Sander J W
机构信息
Department of Neurology, Radcliffe Infirmary, Oxford, England.
出版信息
Epilepsia. 1999 Feb;40(2):248-50. doi: 10.1111/j.1528-1157.1999.tb02083.x.
PURPOSE
To determine zygosity and study cerebral structure in apparently identical twins with discordant manifestation of focal epilepsy.
METHODS
Male twins in their fifth decade were scanned by using magnetic resonance imaging (MRI) to detect structural abnormalities. Zygosity was determined by using 10 microsatellite markers.
RESULTS
DNA analysis showed that the twins were >99.99% likely to be monozygous; they were discordant for bilateral symmetric periventricular nodular heterotopia (PNH) and epilepsy.
CONCLUSIONS
The discordant occurrence of PNH and epilepsy in monozygotic male twins carries implications with respect to somatic mosaicism, currently held to be responsible for PNH in affected male subjects.
目的
确定单卵双胎中表型相同但局灶性癫痫表现不一致的双胎的合子性, 并研究其脑结构。
方法
对50岁左右的男性双胎进行磁共振成像（MRI）扫描以检测结构异常。使用10个微卫星标记确定合子性。
结果
DNA分析显示，这对双胎为单卵双胎的可能性大于99.99%；他们在双侧对称性脑室周围结节性异位（PNH）和癫痫方面表现不一致。
结论
单卵双胎男性中PNH和癫痫的不一致发生对体细胞镶嵌现象具有重要意义，目前认为体细胞镶嵌现象是导致受影响男性出现PNH的原因。
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