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儿童中枢神经系统非典型畸胎样/横纹肌样瘤:病例报告与文献综述

Atypical Teratoid/Rhabdoid Tumor of the Central Nervous System in Children: Case Reports and Literature Review.

作者信息

Guo Gengyin, Zhuang Jianfeng, Zhang Keke, Zhou Zhizhen, Wang Yanjun, Zhang Zhen

机构信息

Department of Neurosurgery, Shandong Provincial Hospital Affiliated to Shandong First Medical University, Jinan, Shandong, China.

Department of Neurosurgery, Qilu Hospital of Shandong University, Jinan, China.

出版信息

Front Surg. 2022 May 16;9:864518. doi: 10.3389/fsurg.2022.864518. eCollection 2022.

Abstract

Atypical teratoid/rhabdoid tumor (AT/RT) of the central nervous system is a highly malignant tumor that mainly occurs in children under the age of 3 and has only been rarely described in adults. The fact that AT/RT patients have such a terrible prognosis is even more regrettable. Herein, we reported two special cases of AT/RT, both of which were under 3 years. Symptoms at presentation included increased intracranial pressure and cerebellar symptoms such as headache, altered gait, and ataxia. As for the tumor location, one was infratentorial in the posterior fossa, and the other was the right lateral ventricle. Preoperative magnetic resonance imaging scans showed calcification and heterogeneous contrast enhancement in the lesions. The mass was excised surgically for the progression of symptoms. Postoperative pathologies of the tumors, combined with immunohistochemistry, revealed AT/RT. AT/RTs are often misdiagnosed as other types of brain tumors due to the lack of specific radiological features and other key characteristics. To improve awareness of AT/RT on the differential diagnosis of intracranial lesions among clinicians, we present this report and briefly summarize previous cases.

摘要

中枢神经系统非典型畸胎样/横纹肌样瘤(AT/RT)是一种高度恶性肿瘤,主要发生于3岁以下儿童,在成人中鲜有报道。AT/RT患者预后极差,令人更为惋惜。在此,我们报告两例特殊的AT/RT病例,均为3岁以下患儿。就诊时症状包括颅内压升高及小脑症状,如头痛、步态改变和共济失调。肿瘤位置方面,一例位于后颅窝幕下,另一例位于右侧脑室。术前磁共振成像扫描显示病变内有钙化及不均匀强化。因症状进展,肿瘤通过手术切除。术后肿瘤病理结合免疫组化显示为AT/RT。由于缺乏特异性影像学特征及其他关键特征,AT/RT常被误诊为其他类型的脑肿瘤。为提高临床医生对AT/RT在颅内病变鉴别诊断中的认识,我们呈现本报告并简要总结既往病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e2d3/9406290/838b2f9c1153/fsurg-09-864518-g001.jpg

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