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马富西综合征之旅:从颅底软骨肉瘤到多器官管理:一例病例报告及文献综述

A journey with Maffucci syndrome: From skull base chondrosarcoma to multiorgan management: A case report and literature review.

作者信息

Dibas Jana, Eid Aseel, Kiswani Somaya Al, Sawaftah Zaid, Sarhan Nader, Nofal Abdullah, Sawafta Omar, Khamaysa Jehad

机构信息

Department of Medicine, An Najah National University, Nablus, Palestine.

Radiology Department, King Hussein Cancer Center, Amman, Jordan.

出版信息

Radiol Case Rep. 2025 May 2;20(7):3515-3520. doi: 10.1016/j.radcr.2025.04.027. eCollection 2025 Jul.

Abstract

Maffucci syndrome is a very infrequently occurring genetic disorder. The 2 classic findings are enchondromas and hemangiomas with a high propensity to become malignant, leading to the formation of chondrosarcomas. In this study, we present the case of a 30-year-old male patient diagnosed with chondrosarcoma at the base of the skull related to Maffucci syndrome who presented with disturbances in visual perception and a palsy of the cranial nerve VI. His imaging studies confirmed the diagnosis; treatment included subtotal resection followed by radiation therapy. The following is the case that epitomizes the dreaded complications of Maffucci syndrome and the need for multidisciplinary, attentive follow-up to find early signs of malignant transformation.

摘要

马富西综合征是一种非常罕见的遗传性疾病。两个典型表现是内生软骨瘤和血管瘤,且极易恶变,进而形成软骨肉瘤。在本研究中,我们报告了一例30岁男性患者,其因马富西综合征被诊断为颅底软骨肉瘤,出现视觉感知障碍和右侧展神经麻痹。其影像学检查确诊了该疾病;治疗包括次全切除,随后进行放射治疗。以下是一个典型病例,体现了马富西综合征可怕的并发症以及多学科密切随访以发现恶性转化早期迹象的必要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f843/12104684/1feabca893f0/gr1.jpg

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