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颅底软骨肉瘤继发于 Ollier 病:病例报告及文献复习。

Skull Base Chondrosarcoma Caused by Ollier Disease: A Case Report and Literature Review.

机构信息

Department of Neurosurgery, West China Hospital, Sichuan University, Chengdu, Sichuan, P.R. China.

Department of Neurosurgery, West China Hospital, Sichuan University, Chengdu, Sichuan, P.R. China.

出版信息

World Neurosurg. 2019 Jul;127:103-108. doi: 10.1016/j.wneu.2019.03.037. Epub 2019 Mar 12.

Abstract

BACKGROUND

Ollier disease (OD) is a rare, nonhereditary bone disease that is characterized by the presence of multiple enchondromatosis (3 or more) with a typical asymmetric distribution which is mainly confined to the appendicular skeleton. OD's most serious complication is the transformation of an enchondroma into chondrosarcoma. The most common sites for chondrosarcoma are in the pelvic and shoulder bones, the superior metaphyseal and diaphyseal regions of the extremities. However, the cranium is an extremely rare site for chondrosarcoma because of OD.

CASE DESCRIPTION

We report the case of a 27-year-old woman who was admitted to our hospital with paroxysmal headaches over 1 month and left ptosis for 2 weeks. Magnetic resonance imaging (MRI) scan revealed a mass was located at the left side of the parasellar area. The mass was surgically removed, and histopathologic examination confirmed chondrosarcoma grade I. During follow-up, more imaging examinations and pathologic examination confirmed the final diagnosis was OD.

CONCLUSIONS

Intracranial chondrosarcoma caused by OD is extremely rare but should be considered in the differential diagnosis when primary chondrosarcoma is diagnosed. Preoperative diagnosis is challenging, and definitive diagnosis requires immunohistochemical examination and systematic examination of the body. Surgical resection is the most effective therapy for rapid relief of symptoms. For patients with OD with normal intracranial MRI, long-term follow-up is necessary.

摘要

背景

奥利尔病(OD)是一种罕见的非遗传性骨疾病,其特征是存在多发性内生软骨瘤(3 个或更多),具有典型的非对称性分布,主要局限于附肢骨骼。OD 最严重的并发症是内生软骨瘤转化为软骨肉瘤。软骨肉瘤最常见的部位是骨盆和肩部骨骼、四肢的骺上和骨干区域。然而,由于 OD,颅骨是软骨肉瘤的极罕见部位。

病例描述

我们报告了一例 27 岁女性的病例,她因 1 个月来阵发性头痛和 2 周来左侧上睑下垂而入院。磁共振成像(MRI)扫描显示肿块位于鞍旁左侧。肿块被手术切除,组织病理学检查证实为 I 级软骨肉瘤。在随访期间,更多的影像学检查和病理检查证实了最终诊断为 OD。

结论

由 OD 引起的颅内软骨肉瘤极为罕见,但在诊断原发性软骨肉瘤时应考虑到鉴别诊断。术前诊断具有挑战性,明确诊断需要免疫组织化学检查和全身系统检查。手术切除是缓解症状最有效的治疗方法。对于 MRI 正常的 OD 患者,需要长期随访。

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