Bättig Linda, Rosch Richard, Steindl Katharina, Bürki Sarah Elisabeth, Ramantani Georgia
Department of Neuropediatrics, University Children's Hospital Zurich, Switzerland.
University of Zurich, Switzerland, Institute of Medical Genetics, Zurich, Switzerland.
Epileptic Disord. 2021 Jun 1;23(3):506-510. doi: 10.1684/epd.2021.1287.
Tumour-associated epilepsy accounts for a quarter of paediatric patients undergoing epilepsy surgery with the vast majority achieving long-term seizure and drug freedom. We report the case of an eight-year-old patient who presented with developmental delay and overgrowth, followed by temporal lobe seizures that were attributed to a mesio-temporal brain tumour, and who was eventually treated with epilepsy surgery. Histopathology revealed a diffuse astrocytoma but its gross total resection surprisingly failed to control the temporal lobe seizures. Genetic testing identified a de novo pathogenic variant in the NSD1 gene, thus establishing the diagnosis of Sotos syndrome. Sotos syndrome is a rare overgrowth syndrome with an increased incidence of malignancy, including the very rare occurrence of brain tumours. Seizures are frequent in patients with Sotos syndrome, often occurring with temporal lobe semiology and ictal EEG patterns in the absence of a brain lesion, and usually responding to anti-seizure medication. Our case highlights Sotos syndrome as a rare but important pitfall in the presurgical workup of temporal lobe epilepsy that should be considered particularly in MRI-negative cases but also in the presence of a focal lesion that does not fully explain the clinical picture. Most importantly, our observations underline the value of thorough presurgical diagnostics including genetic testing, even in apparently straightforward cases of lesional epilepsy, to rule out an underlying genetic aetiology that may not be treated by surgery. Finally, our findings emphasize the need to re-evaluate our less successful epilepsy surgery cases and offer informed counselling and prognostication.
肿瘤相关性癫痫占接受癫痫手术的儿科患者的四分之一，绝大多数患者实现了长期无癫痫发作且无需药物治疗。我们报告了一例8岁患者，该患者最初表现为发育迟缓与生长过速，随后出现颞叶癫痫发作，病因被认为是颞叶内侧脑肿瘤，最终接受了癫痫手术治疗。组织病理学检查显示为弥漫性星形细胞瘤，但其大体全切却意外未能控制颞叶癫痫发作。基因检测发现NSD1基因存在一个新发的致病变异，从而确诊为索托斯综合征。索托斯综合征是一种罕见的过度生长综合征，恶性肿瘤发生率增加，包括极罕见的脑肿瘤。索托斯综合征患者癫痫发作频繁，常在无脑部病变的情况下出现颞叶发作症状学及发作期脑电图模式，且通常对抗癫痫药物有反应。我们的病例凸显了索托斯综合征在颞叶癫痫术前评估中是一种罕见但重要的陷阱，尤其在MRI检查阴性的病例中应予以考虑，在存在局灶性病变但不能完全解释临床表现的情况下也应考虑。最重要的是，我们的观察结果强调了全面的术前诊断（包括基因检测）的价值，即使在明显直接的病灶性癫痫病例中，以排除可能无法通过手术治疗的潜在遗传病因。最后，我们的研究结果强调有必要重新评估我们手术效果欠佳的癫痫病例，并提供充分的咨询和预后评估。
