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成人非癫痫性胚胎发育不良性神经上皮肿瘤的非典型表现:一例报告

Atypical presentation of dysembryoplastic neuroepithelial tumor in an adult without epilepsy: a case report.

作者信息

Vivanco Ricardo A, Aguirre Alex S, Montero Marcelo, Perez-Davila Mauricio, Baehring Joachim

机构信息

School of Medicine, Universidad Catolica de Santiago de Guayaquil, Guayaquil, Ecuador.

School of Medicine, Universidad San Francisco de Quito, Quito, Ecuador.

出版信息

Int J Neurosci. 2024 Dec;134(12):1425-1428. doi: 10.1080/00207454.2023.2268269. Epub 2023 Oct 15.

DOI:10.1080/00207454.2023.2268269
PMID:37800586
Abstract

Dysembryoplastic neuroepithelial tumor (DNET) is a rare glioneuronal tumor usually found in the temporal lobe of children and young adults. DNETs are commonly associated with drug-resistant partial seizures, with most cases diagnosed before age 20. Asymptomatic brain tumors are rare in the general healthy population, and the frequency of incidental DNETs in adults remains unknown. We report the case of a 34-year-old healthy man who presented with a facial rash but was incidentally found to have a large T1 hypointense lesion in the left temporal cortex on neuroimaging. The patient opted for surgical removal of the mass, which was subsequently identified as a DNET, positive for a fibroblast growth factor receptor (FGFR) mutation. This case report presents the first incidentally discovered DNET in an adult without epilepsy, highlighting its atypical presentation. In addition, the presence of an FGFR mutation emphasizes its role in DNET pathogenesis and potential therapeutic implications. DNETs exhibit varied behavior based on age, tumor location, and cortical dysplasia. In this case, the absence of seizure onset may be attributed to the lack of cortical dysplasia. Further research is needed to understand the incidence of DNETs and their association with seizure onset and cortical dysplasia.

摘要

胚胎发育不良性神经上皮肿瘤(DNET)是一种罕见的神经胶质神经元肿瘤,通常见于儿童和年轻成人的颞叶。DNET通常与耐药性部分性癫痫发作相关,大多数病例在20岁之前被诊断出来。在一般健康人群中,无症状脑肿瘤很少见,成人中偶然发现DNET的频率尚不清楚。我们报告了一例34岁健康男性的病例,该患者出现面部皮疹,但在神经影像学检查中偶然发现左侧颞叶皮质有一个大的T1低信号病变。患者选择手术切除肿块,随后被确定为DNET,成纤维细胞生长因子受体(FGFR)突变呈阳性。本病例报告展示了首例在无癫痫的成人中偶然发现的DNET,突出了其非典型表现。此外,FGFR突变的存在强调了其在DNET发病机制中的作用以及潜在的治疗意义。DNET根据年龄、肿瘤位置和皮质发育异常表现出不同的行为。在本病例中,癫痫发作未出现可能归因于缺乏皮质发育异常。需要进一步研究以了解DNET的发病率及其与癫痫发作和皮质发育异常的关联。

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