Pini A, Merlini L, Tomé F M, Chevallay M, Gobbi G
Servizio di Neuropsichiatria Infantile, Arcispedale S Maria Nuova, Reggio Emilia, Italy.
Brain Dev. 1996 Jul-Aug;18(4):316-22. doi: 10.1016/0387-7604(96)00028-9.
We report clinical, EEG and neuroimaging findings of three patients in two Italian families with merosin-negative congenital muscular dystrophy (CMD), drug-resistant occipital epilepsy, diffuse persistent cerebral white matter changes and focal cortical dysplasia. Clinical and epilepsy histories, EEG and neuroimaging findings were very similar in all patients. Seizures started in childhood and mainly consisted of periodic spasms, a particular type of partial seizure characterized by clusters of epileptic spasms. The motor expression of the spasms was very mild so that they had been frequently missed or misinterpreted as non-convulsive generalized absence seizures. Interictal EEG showed occipital spike-waves and bilateral synchronous slow spike-wave discharges. Ictal EEG showed prolonged periodic sequences of slow waves with associated fast rhythm complexes, characteristic of periodic spasms. Two patients had normal intelligence, one patient presented moderate mental retardation. Focal cortical dysplasia in the posterior areas of the brain, in addition to marked diffuse white matter alterations, was detected in the magnetic resonance images of all patients. Findings in these patients indicate that in merosin-negative CMD brain involvement can include cortical dysplasia, in addition to white matter changes. In such cases the brain damage can lead to a childhood-onset localization-related symptomatic occipital epilepsy. Epileptic seizures and cortical dysplasia can be, however, difficult to detect in CMD. The clinical semiology of epileptic seizures may in fact be modified because of muscular weakness. This implies that epilepsy may be misdiagnosed or even missed and EEG-polymyographic recordings may be necessary to identify it. Similarly, cortical dysplasia may be very localized and visible by neuroimaging only if it is carefully investigated on the basis of epileptological and EEG-polymyographic findings.
我们报告了来自两个意大利家庭的三名患者的临床、脑电图及神经影像学检查结果，这些患者患有缺乏含肌纤蛋白的先天性肌营养不良（CMD）、耐药性枕叶癫痫、弥漫性持续性脑白质改变及局灶性皮质发育异常。所有患者的临床及癫痫病史、脑电图及神经影像学检查结果都非常相似。癫痫发作始于儿童期，主要表现为周期性痉挛，这是一种特殊类型的部分性发作，其特征为成串的癫痫性痉挛。痉挛的运动表现非常轻微，以至于常常被漏诊或误诊为非惊厥性全面性失神发作。发作间期脑电图显示枕叶尖波以及双侧同步慢棘慢波放电。发作期脑电图显示慢波的延长周期性序列并伴有快节律复合波，这是周期性痉挛的特征。两名患者智力正常，一名患者有中度智力发育迟缓。在所有患者的磁共振图像中均检测到大脑后部区域的局灶性皮质发育异常，以及明显的弥漫性白质改变。这些患者的检查结果表明，在缺乏含肌纤蛋白的CMD中，除了白质改变外，脑受累还可包括皮质发育异常。在这种情况下，脑损伤可导致儿童期起病的与定位相关的症状性枕叶癫痫。然而，在CMD中癫痫发作和皮质发育异常可能难以检测到。由于肌肉无力，癫痫发作的临床症状学实际上可能会发生改变。这意味着癫痫可能会被误诊甚至漏诊，可能需要进行脑电图-多导肌电图记录来识别它。同样，皮质发育异常可能非常局限，只有在基于癫痫学及脑电图-多导肌电图检查结果进行仔细研究时，通过神经影像学才能发现。
