斯德奇-韦伯综合征伴局灶皮质发育不良Ⅱ A型一例临床及病理分析

Clinico-pathological investigations of one case of Sturge-Weber syndrome with focal cortical dysplasia ⅡA

目的 总结1例经病理确诊的斯德奇-韦伯综合征患者的临床、影像学特征及病理表现.方法 回顾性分析1例斯德奇-韦伯综合征患者的临床、影像学及病理资料,对切除标本行HE及免疫组织化学染色观察.结果 CT显示左侧额叶条索状钙化；MRI示左侧额叶萎缩,可见低信号沿脑回分布.病理学特点为软脑膜的血管瘤病,病变皮质下沿脑回呈带状分布的钙化灶,同时周围皮质排列构筑紊乱,局部见形态异常神经元散在分布,免疫组织化学显示形态异常神经元（神经元特异核抗原、微管相关蛋白2、神经纤维细丝蛋白、SMI32R阳性,符合局灶皮质发育不良ⅡA型的组织学改变.诊断为斯德奇-韦伯综合征伴有局灶皮质发育不良ⅡA型.结论 斯德奇-韦伯综合征可以伴有局灶皮质发育不良,局灶皮质发育不良是部分斯德奇-韦伯综合征的癫痫起源灶.术前诊断为斯德奇-韦伯综合征的患者需仔细评价其临床资料及影像学、脑电图资料,以确定癫痫的起源,从而完整切除癫痫灶,并在术后进行规范的病理分析,明确是否伴有局灶皮质发育不良.

Objective To investigate the clinical and pathologic features of one patient diagnosed as Sturge-Weber syndrome（SWS）.Methods The clinical profile,preoperative magnetic resonance imaging （MRI） studies,and pathology report of one patients with SWS and medically intractable epilepsy were reviewed retrospectively.Results CT scan displayed a dense gyri-form calcification area on the surface of the left frontal lobe.MRI demonstrated a low signal gyri-form area of superficial cortex in the left frontal lobe,and atrophy of the corresponding area.Under microscope,abundant dilated capillaries and vein vessels were found in subarachnoid space.There were a plenty of calcification focused on full-thickness cerebral cortex,especially superficial cortex.The cortex near the calcification exhibited dyslamination and dysmorphic neurons,but no balloon cells.Immunohistochemical study was also performed,and those dysmorphic neurons were positive for neuron-specific nuclear protein,microtubule-associated protein 2,SMI32R and neurofilament.The pathologic diagnosis was SWS with focal cortical dysplasia Ⅱ A.Conclusions Focal cortical dysplasia Ⅱ A can be found in SWS,and may play a major role in epileptogenesis of SWS.Complete resection of focal cortical dysplasia l] A is considered as a key prognostic factor for the outcome of epilepsy surgery.It is important to combine chronic subdural recording,anatomic and functional neuroimaging including PET-CT,and histopathologic examination to localize an epileptogenic focal cortical dysplasia Ⅱ A lesion in patients with SWS.