Dubeau F, Tampieri D, Lee N, Andermann E, Carpenter S, Leblanc R, Olivier A, Radtke R, Villemure J G, Andermann F
Department of Neurology and Neurosurgery, Montreal Neurological Hospital, Canada.
Brain. 1995 Oct;118 ( Pt 5):1273-87. doi: 10.1093/brain/118.5.1273.
Grey matter heterotopias, demonstrated by MRI, may present with a broad spectrum of clinical severity. We have studied 33 patients with periventricular nodular heterotopias (PNH); 19 (58%) had unilateral and 14 (42%) bilateral lesions. Thirteen of the 19 patients (68%) with unilateral subependymal nodules of grey matter had, in addition, unilateral focal subcortical heterotopias (SNH), comprising 39% of the entire group. Most had normal intellectual and motor function but some presented with mild mental retardation and neurological deficits. Recurrent seizures were described in 82%, mainly partial attacks with temporo-parieto-occipital auras. Nodular heterotopias led to unilateral or bilateral independent temporal epileptic discharges in 47% of epileptic patients with PNH alone and in 61% of those who had SNH in addition. Extratemporal or multilobar, unilateral or bilateral interictal spiking was present in 10 other patients (36%). Two first degree relatives of patients with seizures were affected but had no seizures, three were investigated for other apparently unrelated neurological symptoms: memory impairment, vertigo or transient ischaemic attacks in one person each. Contiguous ovoid nodules of grey matter, symmetrically lining both lateral ventricles, were described in nine patients. Seven of them were female, including four with familial incidence of PNH. Such lesions may explain the familial occurrence of epilepsy in some families. Seven patients underwent anterior temporal resection: two patients with unilateral subependymal and focal subcortical heterotopias were seizure free or significantly improved. Four patients, three with PNH alone and one with additional subcortical nodules, did not improve significantly after surgery. The remaining patient was followed for less than 6 months.
磁共振成像（MRI）显示的灰质异位症，其临床严重程度可能有很大差异。我们研究了33例室周结节性异位症（PNH）患者；19例（58%）为单侧病变，14例（42%）为双侧病变。19例单侧室管膜下灰质结节患者中有13例（68%）还伴有单侧局灶性皮质下异位症（SNH），占整个研究组的39%。大多数患者智力和运动功能正常，但部分患者有轻度智力发育迟缓及神经功能缺损。82%的患者有反复发作的癫痫，主要为伴有颞顶枕叶先兆的部分性发作。结节性异位症导致47%仅患有PNH的癫痫患者及61%还伴有SNH的癫痫患者出现单侧或双侧独立的颞叶癫痫放电。另有10例患者（36%）出现颞叶外或多叶、单侧或双侧发作间期棘波。癫痫患者的两名一级亲属有病变但无癫痫发作，另外三名因其他明显无关的神经症状接受检查：分别有一人出现记忆障碍、眩晕或短暂性脑缺血发作。9例患者描述有连续的卵形灰质结节，对称地排列在双侧脑室周围。其中7例为女性，包括4例有PNH家族发病史的患者。此类病变可能解释了某些家族中癫痫的家族性发病情况。7例患者接受了前颞叶切除术：2例单侧室管膜下和局灶性皮质下异位症患者术后无癫痫发作或明显改善。4例患者，3例仅患有PNH，1例伴有皮质下结节，术后改善不明显。其余1例患者随访时间不足6个月。
