Ramina R, Coelho Neto M, Meneses M S, Pedrozo A A
Curitiba Skull Base Foundation, Hospital das Nações, Brazil.
Neurosurgery. 1997 Jul;41(1):269-72. doi: 10.1097/00006123-199707000-00046.
Our objective was to study the diagnosis and management of this rare condition. A review of the literature concerning chondrosarcomas related to Maffucci's syndrome is reported. Cause and management are discussed.
We report a case of Maffucci's syndrome associated with a cranial base chondrosarcoma. To our knowledge, only five similar cases have been reported in the literature. The differential diagnosis between Ollier's disease and Maffucci's syndrome and the causes of these conditions are not clear.
An 18-year-old female patient presented with a giant tumor involving the posterior fossa, clivus, middle fossa, and cavernous sinus. The lesion could be totally removed through a transzygomatic approach. The histological diagnosis was chondrosarcoma. It was confirmed by immunohistochemical studies. There were no postoperative complications.
Maffucci's syndrome is a rare clinical condition that presents difficulties concerning its diagnosis and management. It is characterized by the presence of multiple enchondromas and cutaneous hemangiomas. Intracranial chondrosarcomas may be associated with this syndrome. Immunohistochemical studies are necessary to differentiate chondrosarcomas from chordomas. The treatment of choice for cranial base chondrosarcomas is total removal of the lesion. Total removal may be very difficult to achieve because of the involvement of neurovascular structures. Alternative therapies, such as proton beam radiosurgery, should be considered. In this case, radical removal of the tumor was possible using a transzygomatic approach. Gross total removal of large cranial base chondrosarcomas is possible, but a longer follow-up period is necessary to ascertain that radical resection was achieved.
我们的目的是研究这种罕见病症的诊断与治疗。本文报道了一篇关于与马富西综合征相关的软骨肉瘤的文献综述，并讨论了病因及治疗方法。
我们报告了一例与颅底软骨肉瘤相关的马富西综合征病例。据我们所知，文献中仅报道过五例类似病例。骨软骨瘤病与马富西综合征的鉴别诊断以及这些病症的病因尚不清楚。
一名18岁女性患者出现一个巨大肿瘤，累及后颅窝、斜坡、中颅窝和海绵窦。通过经颧弓入路可将病变完全切除。组织学诊断为软骨肉瘤，免疫组化研究证实了这一诊断。术后无并发症。
马富西综合征是一种罕见的临床病症，其诊断和治疗存在困难。它的特征是存在多发性内生软骨瘤和皮肤血管瘤。颅内软骨肉瘤可能与该综合征相关。免疫组化研究对于鉴别软骨肉瘤和弦瘤是必要的。颅底软骨肉瘤的首选治疗方法是完全切除病变。由于神经血管结构受累，可能很难实现完全切除。应考虑替代疗法，如质子束放射外科。在本病例中，采用经颧弓入路有可能彻底切除肿瘤。大型颅底软骨肉瘤有可能实现大体全切，但需要更长的随访期以确定是否实现了根治性切除。
