Singh R, Sutherland G R, Manson J
Department of Neurology, Women's and Children's Hospital, North Adelaide, Australia, South Australia.
J Child Neurol. 1999 Feb;14(2):108-12. doi: 10.1177/088307389901400208.
Epilepsy and abnormal electroencephalographic (EEG) patterns have been reported in mentally retarded males with fragile-X syndrome, but the high incidence of epilepsy in such persons has been recognized only recently. These individuals have focal spikes in the EEG similar to the benign rolandic pattern. Female carriers have very rarely been reported to have epilepsy or nonspecific abnormal EEG patterns. We report partial seizures with a focal epileptogenic EEG pattern in two sisters and their grandmother, who are all carriers of fragile-X syndrome. The sisters have mild developmental delay, but the grandmother is of normal intelligence. The mother of the two sisters is known to be a carrier of the fragile-X chromosome and is of normal intelligence, with no history of seizures. It is important for physicians to be aware of the possibility that females presenting with partial seizures of unknown cause may be fragile-X carriers, and enquiry for a family history of intellectual disability should be pursued.
据报道，患有脆性X综合征的男性智障患者中存在癫痫和异常脑电图（EEG）模式，但此类人群中癫痫的高发病率直到最近才被认识到。这些个体的脑电图中有局灶性尖波，类似于良性罗兰多模式。女性携带者很少被报道患有癫痫或非特异性异常脑电图模式。我们报告了两名姐妹及其祖母患有部分性癫痫发作，伴有局灶性致痫性脑电图模式，她们均为脆性X综合征携带者。姐妹俩有轻度发育迟缓，但祖母智力正常。已知两姐妹的母亲是脆性X染色体携带者，智力正常，无癫痫病史。医生必须意识到，不明原因出现部分性癫痫发作的女性可能是脆性X携带者，因此应询问其家族智力残疾病史。
