Baumgartner J E, Wheless J W, Kulkarni S, Northrup H, Au K S, Smith A, Brookshire B
Division of Pediatric Surgery (Neurosurgery), The University of Texas Medical School, Houston 77030, USA.
Pediatr Neurosurg. 1997 Dec;27(6):311-8. doi: 10.1159/000121276.
The role of surgery in the treatment of refractory epilepsy (RE) in tuberous sclerosis complex (TSC) is poorly defined. Four patients with RE and TSC were evaluated for epilepsy surgery from 1994 to 1996. Three of four patients developed infantile spasms within 5 months of birth. These progressed to frequent complex partial and generalized tonic/myoclonic seizures refractory to antiepileptic drug therapy. Neuroimaging revealed typical findings of TSC including calcified lesions consistent with hamartomas. Clinical and EEG evidence suggested an epileptic focus near a prominent lesion in each child. This was confirmed using magnetic source imaging in 1 case. All patients underwent inpatient continuous video-EEG monitoring followed by temporal lobectomy or focal cortical resection with intraoperative EEG. Age at operation ranged from 5 to 13 years. Three out of 4 patients experienced a greater than 90% decrease in seizure activity. One patient continues to have rare complex partial seizures, and 1 has rare simple partial seizures. Tumor DNA analysis revealed mutations in the TSC1 gene in case 1 and the TSC2 gene in case 2; no mutations have been identified yet in cases 3 and 4. Temporal lobectomy and focal cortical resection can result in improved seizure control in patients with TSC and RE.
手术在结节性硬化症（TSC）所致难治性癫痫（RE）治疗中的作用尚不明确。1994年至1996年，对4例RE合并TSC患者进行了癫痫手术评估。4例患者中有3例在出生后5个月内出现婴儿痉挛症。这些痉挛症进展为频繁的复杂部分性发作和全身性强直/肌阵挛发作，对抗癫痫药物治疗无效。神经影像学检查显示了TSC的典型表现，包括与错构瘤一致的钙化病灶。临床和脑电图证据提示每个患儿的癫痫病灶靠近一个明显的病变。其中1例通过磁源成像得到了证实。所有患者均接受了住院连续视频脑电图监测，随后进行了颞叶切除术或术中脑电图监测下的局灶性皮质切除术。手术年龄为5至13岁。4例患者中有3例癫痫活动减少了90%以上。1例患者仍有罕见的复杂部分性发作，1例有罕见的简单部分性发作。肿瘤DNA分析显示，病例1的TSC1基因和病例2的TSC2基因发生了突变；病例3和病例4尚未发现突变。颞叶切除术和局灶性皮质切除术可改善TSC合并RE患者的癫痫控制情况。
