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马富西综合征合并颅内软骨肉瘤:两例新的典型病例

Maffucci's syndrome complicated by intracranial chondrosarcoma: two new illustrative cases.

作者信息

Dini Leandro Infantini, Isolan Gustavo Rassier, Saraiva Glauco Andre, Dini Simone Afonso, Gallo Pasquale

机构信息

Department of Neurosurgery, Hospital Centenário, Avenida Theodomiro Porto da Fonseca 799, 93020-080 São Leopoldo, RS, Brazil.

出版信息

Arq Neuropsiquiatr. 2007 Sep;65(3B):816-21. doi: 10.1590/s0004-282x2007000500016.

Abstract

Maffucci's syndrome is a rare congenital condition, sometimes misdiagnosed as Ollier's disease, characterized by multiple enchondromas combined with hemangiomas and phlebectasia. Coexisting primary malignancies have been described sporadically. We report two cases of Maffucci's syndrome associated with cranial base chondrosarcoma, emphasizing pathophysiological features and the challenging management of intracranial chondrosarcomas. To the best of our knowledge, only twelve similar cases have been reported in the literature.

摘要

马富西综合征是一种罕见的先天性疾病,有时会被误诊为奥利尔病,其特征为多发内生软骨瘤合并血管瘤和静脉扩张。原发性恶性肿瘤共存的情况已有零星报道。我们报告了两例与颅底软骨肉瘤相关的马富西综合征病例,强调了病理生理特征以及颅内软骨肉瘤具有挑战性的治疗。据我们所知,文献中仅报道了12例类似病例。

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