Sabers Anne, Larsen Katja, Blichfeldt Susanne, Sahlholdt Lene, Rasmussen John Oskaer
Epilepsiklinikken, Glostrup Hospital, DK-2600 Glostrup.
Ugeskr Laeger. 2009 Jan 19;171(4):221-5.
Treatment with valproate is associated with an increased risk of teratogenicity compared to other antiepileptic drugs and can cause a complex of serious symptoms usually referred to as "foetal valproate symdrome" which is characterised by major and minor malformations in association with developmental delay. This paper aims to give attention to the syndrome through four case descriptions. Furthermore, possible risk factors and the use of the mutation 677C-T as a risk marker are discussed.
Nine developmentally retarded children from a parent group, born of mothers who were treated with valproate during pregnancy, were neuropediatrically and neuropsychologically examined in a non-acute setting. The mothers were screened for the 677C-T mutation.
Four of seven examined children fulfilled the criteria for foetal valproate syndrome. Only one of the four mothers was heterozygote for the 677C-T mutation (CT, n = 1/4) and none of the mothers were homozygote (TT, n = 0/4)
The foetal valproate syndrome is a complex of symptoms which is probably underdiagnosed and should be considered in the diagnostic evaluation program for children with developmental delay who are born of mothers with epilepsy. The 677C-T mutation does not seem to be a useful genetic marker of this syndrome.
与其他抗癫痫药物相比，丙戊酸盐治疗与致畸风险增加相关，可导致一系列通常被称为“胎儿丙戊酸盐综合征”的严重症状，其特征是伴有发育迟缓的各种严重和轻微畸形。本文旨在通过四个病例描述来关注该综合征。此外，还讨论了可能的风险因素以及将677C-T突变用作风险标志物的情况。
从一个父母群体中选取九名发育迟缓儿童，其母亲在孕期接受了丙戊酸盐治疗，在非急性情况下对他们进行了神经儿科学和神经心理学检查。对母亲们进行了677C-T突变筛查。
七名接受检查的儿童中有四名符合胎儿丙戊酸盐综合征的标准。四名母亲中只有一名是677C-T突变的杂合子（CT，n = 1/4），且没有母亲是纯合子（TT，n = 0/4）。
胎儿丙戊酸盐综合征是一组症状，可能未得到充分诊断，对于患有发育迟缓的癫痫母亲所生儿童的诊断评估程序中应予以考虑。677C-T突变似乎不是该综合征有用的遗传标志物。
