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以孤立性软脑膜强化且无原发肿块为表现的髓母细胞瘤。

Medulloblastoma Presenting As Isolated Leptomeningeal Enhancement With No Primary Mass.

作者信息

Meister Molly, Lin Julian J, Bach Sarah E, Kapileshwarkar Yamini, Kumar Prerna

机构信息

Medical School, University of Illinois College of Medicine Peoria, Peoria, USA.

Neurosurgery, University of Illinois College of Medicine Peoria, Peoria, USA.

出版信息

Cureus. 2022 Jul 5;14(7):e26598. doi: 10.7759/cureus.26598. eCollection 2022 Jul.

Abstract

Medulloblastoma presenting with diffuse leptomeningeal enhancement and no identified intra-parenchymal primary mass is extremely rare. A 14-year-old previously healthy boy presented with a three-week history of symptoms consistent with increased intracranial pressure (ICP). Magnetic resonance imaging (MRI) revealed diffuse leptomeningeal enhancement which prompted consideration of infectious, inflammatory, and neoplastic etiologies. The patient became rapidly unstable requiring the placement of an external ventricular drain (EVD) and induction of a phenobarbital coma for refractory seizures. The "sugar-coated" appearance of the abnormal enhancement and thickened tissues raised concern specifically for malignancy. The patient remained extremely unstable and ultimately required surgical decompression for increased ICP at which time a biopsy was obtained. Despite attempting bridging intra-ventricular chemotherapy, the patient, unfortunately, passed away, just 14 days from the initial presentation. Final pathology later confirmed the diagnosis of medulloblastoma. Awareness of medulloblastoma in the differential of diffuse leptomeningeal enhancement is crucial for early identification and treatment of this rare presentation. This case is the first pediatric report of primary leptomeningeal medulloblastoma without a primary mass involving the large cell/anaplastic variant.

摘要

表现为弥漫性软脑膜强化且未发现脑实质内原发肿块的髓母细胞瘤极为罕见。一名14岁既往健康的男孩出现了为期三周的与颅内压升高(ICP)相符的症状。磁共振成像(MRI)显示弥漫性软脑膜强化,这促使考虑感染性、炎症性和肿瘤性病因。患者病情迅速恶化,需要放置外部脑室引流管(EVD)并诱导苯巴比妥昏迷以控制难治性癫痫发作。异常强化和增厚组织的“糖衣”外观特别引起了对恶性肿瘤的担忧。患者仍然极度不稳定,最终因ICP升高需要进行手术减压,此时进行了活检。尽管尝试了桥接脑室内化疗,但不幸的是,患者在首次就诊仅14天后就去世了。最终病理后来证实为髓母细胞瘤。在弥漫性软脑膜强化的鉴别诊断中认识到髓母细胞瘤对于这种罕见表现的早期识别和治疗至关重要。本病例是首例关于原发性软脑膜髓母细胞瘤且无累及大细胞/间变性变体的原发肿块的儿科报告。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bf64/9352599/db776cc382d8/cureus-0014-00000026598-i01.jpg

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