Prayson R A, Kotagal P, Wyllie E, Bingaman W
Department of Anatomic Pathology, Cleveland Clinic Foundation, Ohio 44195, USA.
Arch Pathol Lab Med. 1999 Apr;123(4):301-5. doi: 10.5858/1999-123-0301-LENANS.
Linear epidermal nevus syndrome and linear sebaceus nevus syndrome are rare neurocutaneous syndromes characterized by epidermal nevi, epilepsy, and mental retardation. Pathologic descriptions of the central nervous system findings in such patients are rare.
We examined the clinicopathologic features of 2 patients with linear epidermal nevus syndrome and 1 with nevus sebaceus syndrome who underwent surgical resections for chronic epilepsy in a tertiary referral center with a high volume of epilepsy surgery.
Patients included 3 females, aged 11 months (patient 1), 8 years (patient 2), and 2 1/2 years (patient 3) at the time of surgery. The duration of seizures prior to surgery was 11 months, 6 years, and 28 months, respectively. Two patients had epidermal nevi involving the head region (patients 1 and 3), and 1 had a nevus sebaceus of Jadassohn (patient 2); patient 2 had a choristoma, and patient 3 had a dermoid cyst in the eye region. Patient 1 demonstrated hemimegalencephaly radiographically. Histologic examination of resected cortical tissue in patients 1 and 2 demonstrated severe diffuse cortical dysplasia characterized by a disorganized cortical architectural pattern, a haphazard orientation of cortical neurons, and increased molecular layer neurons. Gyral fusion was seen in patient 1. Pial glioneuronal hamartomas were observed in patient 1. Prominent cortical astrocytosis was seen in patients 1 and 2, and foci of microcalcification were evident in patient 1. Cortical dysplasia was milder in patient 3 and consisted of an increased number of molecular layer neurons. Neuronal heterotopia was observed in all 3 patients.
The spectrum of neuronal migration abnormalities in the setting of these syndromes may be variable in terms of its histologic phenotypic manifestations.
线性表皮痣综合征和线性皮脂腺痣综合征是罕见的神经皮肤综合征，其特征为表皮痣、癫痫和智力障碍。此类患者中枢神经系统病变的病理学描述很少见。
我们在一家癫痫手术量大的三级转诊中心，对2例线性表皮痣综合征患者和1例皮脂腺痣综合征患者进行了手术切除治疗慢性癫痫，并检查了其临床病理特征。
患者包括3名女性，手术时年龄分别为11个月（患者1）、8岁（患者2）和2岁半（患者3）。手术前癫痫发作的持续时间分别为11个月、6年和28个月。2例患者的表皮痣累及头部区域（患者1和3），1例有 Jadassohn皮脂腺痣（患者2）；患者2有迷芽瘤，患者3眼部区域有皮样囊肿。患者1影像学检查显示半侧巨脑症。患者1和2切除的皮质组织的组织学检查显示严重弥漫性皮质发育异常，其特征为皮质结构紊乱、皮质神经元排列杂乱以及分子层神经元增多。患者1可见脑回融合。患者1观察到软脑膜神经胶质神经元错构瘤。患者1和2可见明显的皮质星形细胞增生，患者1可见微钙化灶。患者3的皮质发育异常较轻，表现为分子层神经元数量增加。所有3例患者均观察到神经元异位。
在这些综合征背景下，神经元迁移异常的组织学表型表现可能存在差异。
