Ruivo Joana, Antunes João Lobo
Department of Neuroradiology, Hospital de Santa Maria, Lisbon, Portugal.
J Neurosurg. 2009 Feb;110(2):363-8. doi: 10.3171/2008.8.JNS08150.
Malignancies are a common feature of Maffucci syndrome, with chondrosarcomas being the most common tumor type. The authors present the first case of Maffucci syndrome associated with a pituitary adenoma and a probable brainstem glioma and review the literature concerning intracranial tumors related to this disease. They report the case of a 35-year-old woman with Marfucci syndrome (diagnosed when she was 22 years old) who presented with complaints of decreased visual acuity and visual field defect. Neuroimaging revealed a pituitary macroadenoma and a suspected brainstem tumor. The macroadenoma was partially removed. There were no postoperative complications and the patient experienced rapid improvement in visual acuity. On follow-up examination 2 years later, the lesion in the pons showed the same dimensions. No sarcomatous changes of enchondromas or hemangiomas occurred. To the authors' knowledge, including the present case, only 7 cases of Maffucci syndrome associated with glioma and 7 cases associated with pituitary adenoma have been reported in the literature. This report emphasizes that patients with this disease are at a higher risk for primary intracranial tumors and reinforces the concept of the multiplicity of tumors that may arise in this syndrome. It also underscores the importance of early diagnosis, regular clinical surveillance, and follow-up studies of these patients.
恶性肿瘤是马富西综合征的常见特征，其中软骨肉瘤是最常见的肿瘤类型。作者报告了首例与垂体腺瘤和可能的脑干胶质瘤相关的马富西综合征病例，并回顾了有关该疾病相关颅内肿瘤的文献。他们报道了一名35岁患有马富西综合征（22岁时确诊）的女性病例，该患者出现视力下降和视野缺损的症状。神经影像学检查发现一个垂体大腺瘤和一个疑似脑干肿瘤。垂体大腺瘤被部分切除。术后无并发症，患者视力迅速改善。2年后的随访检查显示，脑桥病变大小未变。内生软骨瘤或血管瘤未发生肉瘤样改变。据作者所知，包括本病例在内，文献中仅报道了7例与胶质瘤相关的马富西综合征病例和7例与垂体腺瘤相关的病例。本报告强调，该疾病患者发生原发性颅内肿瘤的风险更高，并强化了该综合征可能出现多种肿瘤的概念。它还强调了对这些患者进行早期诊断、定期临床监测和随访研究的重要性。
