无癫痫的成人胚胎发育不良神经上皮肿瘤的非典型表现:一例报告。

IF 1.7 4区 医学 Q4 NEUROSCIENCES
International Journal of Neuroscience Pub Date : 2024-12-01 Epub Date: 2023-10-15 DOI:10.1080/00207454.2023.2268269
Ricardo A Vivanco, Alex S Aguirre, Marcelo Montero, Mauricio Perez-Davila, Joachim Baehring
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引用次数: 0

摘要

胚胎发育不良性神经上皮肿瘤(DNET)是一种罕见的胶质神经元肿瘤,常见于儿童和年轻人的颞叶。DNET通常与耐药性部分性癫痫发作有关,大多数病例在20岁之前诊断出来。无症状脑肿瘤在一般健康人群中很少见,成人中偶然发生DNET的频率尚不清楚。我们报告了一名34岁的健康男性的病例,他出现了皮疹,但在神经影像学上偶然发现左颞皮质有一个巨大的T1低强度病变。患者选择手术切除肿块,随后被鉴定为DNET,成纤维细胞生长因子受体(FGFR)突变呈阳性。本病例报告首次在无癫痫的成年人中偶然发现DNET,强调其非典型表现。此外,FGFR突变的存在强调了其在DNET发病机制中的作用和潜在的治疗意义。DNET根据年龄、肿瘤位置和皮质发育不良表现出不同的行为。在这种情况下,癫痫发作的缺失可能归因于皮质发育不良的缺失。需要进一步的研究来了解DNET的发生率及其与癫痫发作和皮质发育不良的关系。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Atypical presentation of dysembryoplastic neuroepithelial tumor in an adult without epilepsy: a case report.

Aim of the study: 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.Materials and methods: 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.Results: 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.Conclusions: 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.

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来源期刊
CiteScore
5.10
自引率
0.00%
发文量
132
审稿时长
2 months
期刊介绍: The International Journal of Neuroscience publishes original research articles, reviews, brief scientific reports, case studies, letters to the editor and book reviews concerned with problems of the nervous system and related clinical studies, epidemiology, neuropathology, medical and surgical treatment options and outcomes, neuropsychology and other topics related to the research and care of persons with neurologic disorders.  The focus of the journal is clinical and transitional research. Topics covered include but are not limited to: ALS, ataxia, autism, brain tumors, child neurology, demyelinating diseases, epilepsy, genetics, headache, lysosomal storage disease, mitochondrial dysfunction, movement disorders, multiple sclerosis, myopathy, neurodegenerative diseases, neuromuscular disorders, neuropharmacology, neuropsychiatry, neuropsychology, pain, sleep disorders, stroke, and other areas related to the neurosciences.
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