Navarro-Ballester Antonio, Álvaro-Ballester Rosa, Lara-Martínez Miguel Ángel
Radiology Department, Hospital General Universitari de Castelló, Castellón de la Plana (Castellón), Spain.
Acta Med Litu. 2024;31(1):61-67. doi: 10.15388/Amed.2024.31.1.9. Epub 2024 Feb 27.
22-year-old male diagnosed with Tuberous Sclerosis Complex (TSC), a genetic disorder characterized by benign tumors in various organs, with a focus on neurological implications. Central to the study is the development of Subependymal Giant Cell Astrocytomas (SEGAs), leading to hydrocephalus in the patient. The diagnosis of TSC was made in the patient's childhood, and he was monitored regularly. The study highlights a significant growth in a subependymal nodule, leading to monoventricular hydrocephalus. MRI scans played a crucial role in identifying the progression of SEGAs and the subsequent hydrocephalus. The treatment approach involved endoscopic surgical removal of the SEGA, with histopathology confirming the diagnosis. Post-surgical outcomes over an eight-year follow-up period showed a normalization in ventricular size and the stability of other subependymal nodules, without any complications. This case underscores the importance of regular monitoring for TSC patients, early intervention for complications like hydrocephalus, and the need for a multidisciplinary treatment approach. The case study provides valuable insights into the management of neurodevelopmental disorders and the complexities surrounding TSC and SEGAs.
一名22岁男性被诊断患有结节性硬化症(TSC),这是一种遗传性疾病,其特征是各个器官出现良性肿瘤,重点在于对神经系统的影响。该研究的核心是室管膜下巨细胞星形细胞瘤(SEGA)的发展,这导致了患者出现脑积水。TSC的诊断在患者童年时期就已做出,并且他一直接受定期监测。该研究突出了一个室管膜下结节的显著生长,导致了单脑室脑积水。磁共振成像(MRI)扫描在确定SEGA的进展以及随后的脑积水方面发挥了关键作用。治疗方法包括通过内镜手术切除SEGA,组织病理学检查证实了诊断。在八年的随访期内,术后结果显示脑室大小恢复正常,其他室管膜下结节保持稳定,且无任何并发症。该病例强调了对TSC患者进行定期监测的重要性、对脑积水等并发症进行早期干预的必要性以及采用多学科治疗方法的必要性。该病例研究为神经发育障碍的管理以及围绕TSC和SEGA的复杂性提供了宝贵的见解。