Yanase Maya, Kaido Takanobu, Yamada Maki, Watanabe Masako
Department of Psychiatry, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo, Japan.
BMJ Case Rep. 2012 Jun 28;2012:bcr1120115219. doi: 10.1136/bcr-11-2011-5219.
Malformations of cortical development (MCD) are important causes of chronic epilepsy. MCD encompass many varied disorders with diverse clinical manifestations. Schizencephaly, one of the MCD, is known to be complicated by various types of epilepsy, most of which are intractable. We treated a 28-year-old man with epilepsy, characterised by unprovoked generalised tonic-clonic seizures accompanied by MCD. Brain MRI detected multiple malformations including septum pellucidum defect, partial corpus callosum defect, schizencephaly, right hippocampal atrophy, cerebellar atrophy and cerebellum atrophy. 99m Tc-ethylcysteinate dimer single photon emission CT showed decreased cerebral blood flow (CBF), and the morphology of CBF defects overlapped with the anomalous findings on MRI. The clinical outcome of the patient was good despite his severe brain malformations. Although the reason of this discrepancy is unclear, the outcomes of social function and epileptic seizures may be relatively good despite severe MCD in some patients.
皮质发育畸形（MCD）是慢性癫痫的重要病因。MCD包含多种不同的疾病，临床表现多样。脑裂畸形作为MCD之一，已知会并发各种类型的癫痫，其中大多数难以治疗。我们治疗了一名28岁的癫痫男性患者，其特征为无诱因的全身性强直阵挛发作并伴有MCD。脑部磁共振成像（MRI）检测到多种畸形，包括透明隔缺损、部分胼胝体缺损、脑裂畸形、右侧海马萎缩、小脑萎缩。锝-99m乙胱氨酸二聚体单光子发射计算机断层扫描（99mTc-ECD SPECT）显示脑血流量（CBF）降低，CBF缺损的形态与MRI上的异常表现重叠。尽管该患者存在严重的脑畸形，但其临床预后良好。虽然这种差异的原因尚不清楚，但在一些患者中，尽管存在严重的MCD，社会功能和癫痫发作的预后可能相对较好。
