Polkey Charles E
Academic Neurosciences Centre Institute of Psychiatry, London, UK.
Epileptic Disord. 2003 Dec;5(4):281-6.
Hypothalamic hamartoma presents with precocious puberty, epilepsy or both. There are two epileptic syndromes, one presenting initially in infancy with gelastic seizures evolving rapidly into a syndrome with multiple seizures, developmental delay and a moderate to severe behaviour disorder. The other presents later with a milder epileptic syndrome, again usually including gelastic seizures, but with normal intellect and behaviour. Magnetic resonance imaging identifies and gives a detailed anatomical picture of these lesions. Direct surgery, using microsurgical techniques and neuronavigation guidance has been used for these lesions. Three surgical approaches have been used, one lateral pterional, another midline frontal through the lamina terminalis and a third is a transcallosal interforniceal approach. In addition a disconnection procedure, usually pterional, aims to disconnect the lesion without the risks of major resection. The transcallosal interforniceal approach is the most successful with 69% of patients seizure-free. There are complications in about 24% of patients, the same as other approaches, but the complications are milder and include fewer neurological deficits than the other routes. Alternate strategies include stereotactic radiosurgery and radiofrequency ablation under stereotactic control.
下丘脑错构瘤可表现为性早熟、癫痫或两者兼有。存在两种癫痫综合征，一种最初在婴儿期出现，以痴笑性癫痫发作开始，迅速发展为伴有多种发作、发育迟缓及中度至重度行为障碍的综合征。另一种较晚出现，表现为较轻微的癫痫综合征，通常也包括痴笑性癫痫发作，但智力和行为正常。磁共振成像可识别这些病变并给出详细的解剖图像。对于这些病变已采用直接手术，运用显微外科技术和神经导航引导。已采用三种手术入路，一种是外侧翼点入路，另一种是经终板的中线额下入路，第三种是经胼胝体穹窿间入路。此外，一种离断手术，通常是翼点入路，旨在离断病变而无大的切除风险。经胼胝体穹窿间入路最为成功，69%的患者术后无癫痫发作。约24%的患者有并发症，与其他入路相同，但并发症较轻，与其他路径相比神经功能缺损较少。替代策略包括立体定向放射外科和立体定向控制下的射频消融。
