Shields W D, Shewmon D A, Chugani H T, Peacock W J
Department of Neurology, University of California, School of Medicine, Los Angeles 90024-1752.
Epilepsia. 1992;33 Suppl 4:S26-31. doi: 10.1111/j.1528-1157.1992.tb06224.x.
Although infantile spasms were initially described in 1841, remarkably little progress has been made in understanding the pathophysiology of this "peculiar form of infantile convulsions." Consequently, our ability to treat infantile spasms is limited. Infantile spasms are classified as a "generalized" seizure disorder in the international classification system, which suggests that the underlying brain abnormality causing the seizures also must be diffuse or generalized. As the classification suggests, there are many diffuse, or multifocal, brain disorders related to infantile spasms, e.g., inborn errors of metabolism, hypoxic-ischemic brain injury, and developmental brain defects such as tuberous sclerosis or Aicardi's syndrome. On the other hand, infantile spasms have been reported in which a localized brain abnormality was present, e.g., tumor, stroke, and trauma. On rare occasions, removal of a tumor has resulted in cessation of the generalized infantile spasms. This finding suggests that focal cortical abnormalities can cause infantile spasms and that removing the abnormality can stop the seizures. At University of California, Los Angeles, the Pediatric Epilepsy Surgery Program has developed new approaches to the treatment of infantile spasms. The principal underlying concepts are (a) children with medically refractory infantile spasms may have an area of cortical defect (called the zone of cortical abnormality) that causes the seizures and (b) infantile spasms are usually generalized seizures. Thus, the goal of the surgical assessment is not the identification of the focus of seizure onset but rather the identification of the zone of cortical abnormality.
尽管婴儿痉挛症在1841年就有了最初的描述，但在理解这种“特殊形式的婴儿惊厥”的病理生理学方面取得的进展却非常少。因此，我们治疗婴儿痉挛症的能力有限。在国际分类系统中，婴儿痉挛症被归类为“全身性”癫痫障碍，这表明导致癫痫发作的潜在脑异常也必定是弥漫性或全身性的。正如分类所示，有许多与婴儿痉挛症相关的弥漫性或多灶性脑部疾病，例如先天性代谢缺陷、缺氧缺血性脑损伤以及发育性脑缺陷，如结节性硬化症或艾卡迪综合征。另一方面，也有报道称婴儿痉挛症存在局部脑异常，例如肿瘤、中风和创伤。在极少数情况下，切除肿瘤会导致全身性婴儿痉挛症停止。这一发现表明局灶性皮质异常可导致婴儿痉挛症，切除异常可终止癫痫发作。在加利福尼亚大学洛杉矶分校，小儿癫痫外科项目已经开发出了治疗婴儿痉挛症的新方法。主要的基本理念是：（a）患有药物难治性婴儿痉挛症的儿童可能有一个导致癫痫发作的皮质缺损区域（称为皮质异常区），以及（b）婴儿痉挛症通常是全身性癫痫发作。因此，手术评估的目标不是确定癫痫发作的起始灶，而是确定皮质异常区。
