超越良性:一例结节性硬化症复合体腮腺下巨细胞星形细胞瘤引发脑积水的病例

Q3 Medicine Acta Medica Lituanica Pub Date : 2024-05-22 DOI:10.15388/amed.2024.31.1.9
A. Navarro-Ballester, Rosa Álvaro-Ballester, Miguel Ángel Lara-Martínez
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引用次数: 0

摘要

22 岁的男性被诊断患有结节性硬化综合症(TSC),这是一种遗传性疾病,其特征是在不同器官中长出良性肿瘤,重点是对神经系统的影响。这项研究的核心内容是腮腺下巨细胞星形细胞瘤(SEGAs)的发展,导致患者出现脑积水。TSC的诊断是在患者童年时做出的,并对他进行了定期监测。研究显示,蝶鞍下结节明显增大,导致单房性脑积水。核磁共振成像扫描在确定SEGAs的进展和随后的脑积水方面发挥了至关重要的作用。治疗方法是通过内窥镜手术切除SEGA,并通过组织病理学确诊。手术后八年的随访结果显示,脑室大小恢复正常,其他蝶鞍下结节也趋于稳定,没有出现任何并发症。该病例强调了对 TSC 患者进行定期监测、对脑积水等并发症进行早期干预的重要性,以及采用多学科治疗方法的必要性。本病例研究为神经发育性疾病的治疗以及围绕TSC和SEGAs的复杂性提供了宝贵的见解。
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Beyond Benign: A Case of Subependymal Giant Cell Astrocytomas Provoking Hydrocephalus in Tuberous Sclerosis Complex
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.
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来源期刊
Acta Medica Lituanica
Acta Medica Lituanica Medicine-General Medicine
CiteScore
0.70
自引率
0.00%
发文量
33
审稿时长
16 weeks
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