Ricciardi Giuseppe K, Paio Fabio, Zivelonghi Cecilia, Longhi Michele, Bulgarelli Giorgia, Tagliamonte Micaela, Polloniato Paolo M, Mantovani Elisa, Ferlisi Monica, Nicolato Antonio, Montemezzi Stefania, Tinazzi Michele, Bonetti Bruno, Sala Francesco, Zanoni Tiziano, Tamburin Stefano
Neuroradiology Unit, Department of Pathology and Diagnostics, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.
Neurology Unit, Department of Neurosciences, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.
Neurol Sci. 2025 Mar;46(3):1399-1404. doi: 10.1007/s10072-024-07946-2. Epub 2024 Dec 28.
Drug-resistant epilepsy (DRE) secondary to hypothalamic hamartoma (HH) often requires surgical resection or stereotactic radiosurgery, which frequently fail to provide satisfactory outcomes and are associated with severe side effects. Magnetic resonance-guided focused ultrasound (MRgFUS) may represent a minimally invasive surgical approach to HH by offering precise thermal ablation of sub-millimetric brain targets while sparing surrounding structures.
We present the case of a 19-year-old man with HH-associated DRE, who was successfully treated with MRgFUS. The procedure resulted in effective ablation of the hypothalamic interface of the HH, disconnecting the epileptogenic lesion from the surrounding brain tissue. We also reviewed the literature on MRgFUS for DRE.
The patient experienced a complete resolution of seizures and significant improvements in social and occupational functioning over an 18-month follow-up period. No neurological, cognitive, or endocrinological adverse effects were observed.
Our case report and literature review suggest that MRgFUS may achieve adequate seizure control in DRE associated with HH without adverse effects. While MRgFUS shows promise for other forms of DRE, data remain preliminary, and some safety concerns persist. Further studies with long-term follow-up are warranted to better support the use of MRgFUS in DRE.
下丘脑错构瘤(HH)继发的耐药性癫痫(DRE)通常需要手术切除或立体定向放射外科治疗,但这些方法常常无法提供令人满意的结果,且伴有严重的副作用。磁共振引导聚焦超声(MRgFUS)可能代表一种针对HH的微创外科手术方法,它能够在保留周围结构的同时,对亚毫米级脑靶点进行精确的热消融。
我们报告了一例19岁患有HH相关DRE的男性患者,其通过MRgFUS成功得到治疗。该手术有效消融了HH的下丘脑界面,将致痫病变与周围脑组织分离。我们还回顾了关于MRgFUS治疗DRE的文献。
在18个月的随访期内,患者癫痫发作完全缓解,社交和职业功能有显著改善。未观察到神经、认知或内分泌方面的不良反应。
我们的病例报告和文献综述表明,MRgFUS可能在不产生不良反应的情况下,有效控制与HH相关的DRE的癫痫发作。虽然MRgFUS对其他形式的DRE显示出前景,但数据仍然初步,一些安全问题仍然存在。有必要进行长期随访的进一步研究,以更好地支持MRgFUS在DRE中的应用。