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首页> 外文期刊>Neurocirugia >Large chondroma of the dural convexity in a patient with Noonan's syndrome: Case report and review of the literature
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Large chondroma of the dural convexity in a patient with Noonan's syndrome: Case report and review of the literature

机译：Noonan's综合征患者硬脑膜凸大软骨瘤：病例报告及文献复习

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Introduction. Intracranial chondromas are extremely rare intracranial tumours that usually arise from the skull base synchondrosis. Exceptionally, they may grow from cartilage rests within the dura mater of the convexity or the falx. They may be part of Ollier's multiple enchondromatosis or Maffuci's syndrome. We describe the case of a young male diagnosed of Noonan's syndrome that underwent resection of a large intracranial chondroma arising from the dural convexity.To our best knowledge this is the first report of suchassociation. Case report. An 18-year-old male presented with a single generalized seizure. The patient was previously diagnosed of Noonan's syndrome on the basis of his special phenotype (Turner-like), low stature, cardiac malformation, retarded sexual and bone development and normal karyotype. He harboured mild psychomotor retardation. Physical and neurological examinations were unremarkable. Brain Magnetic Resonance image showed a large well-circumscribed intracranial mass in the dural convexity of the left frontal-parietal lobes, with heterogeneous contrast enhancement and no peritumoural oedema. The patient was initiated on valproic acid and underwent craniotomy and complete excision of the tumour. The tumour was firm, white-greyish, avascular and could be finely dissected away from the cortex. Postoperative seizures required additional anticonvulsant therapy. He was discharged uneventfully. The pathological study revealed a mature chondroma. Subsequent brain MRI studies have shown no evidence of recurrence after 33 months of follow up. Discussión. Chondromas comprise less than 0.3% of intracranial tumours. Only twenty-five cases of intracranial dural convexity chondromas are reported in the literature. Several hystopathogenetic theories have been proposed: metaplasia of meningeal fibroblasts and perivascular meningeal tissue, traumatic or inflammatory cartilaginous activation of fibroblasts and growth of aberrant embryonal cartilaginous rests in the dura mater. Chondromas present clinical features similar to meningiomas. CT scan imaging shows a mass of variable density due to different degrees of calcification with minimum to moderate contrast enhancement. MRI studies show a well-circumscribed lesion without surrounding tissue oedema, that exhibit heterogeneous signal with intermediate to low intensity on T1-weighted images and mixed intensity on T2-weighted images with minimum enhancement. Angiogram is clue to differentiate from meningiomas since chondromas are completely avascular. Complete tumour resection including its dural attachment is the treatment of choice. Long-term prognosis is favourable. Radiation therapy is currently not recommended for residual tumours or inoperable patients due to risk of malignization. Noonan's syndrome (also known as pseudo-Turner syndrome) is a complex familial genetic disorder with a phenotype that resembles that of Turner's syndrome but exhibits no chromosomal defect. No predisposition of Noonan's syndrome for tumoural development is reported in the literature. Association of a dural convexity chondroma with Noonan's syndrome is unique as far as the literature is concerned.
机译：介绍。颅内软骨瘤是极为罕见的颅内肿瘤，通常由颅底软骨异位症引起。在特殊情况下，它们可能会从凸状或硬脊膜硬脑膜中的软骨休止处生长。它们可能是Ollier多发性内生软骨病或Maffuci综合征的一部分。我们描述了一个被诊断为Noonan综合征的年轻男性病例，该病例因硬脑膜凸出而接受了大颅内软骨瘤的切除术。据我们所知，这是这种关联的首次报道。案例报告。一名18岁男性出现了一次全身性癫痫发作。该患者先前因其特殊的表型（特纳样），低矮的身材，心脏畸形，性和骨骼发育迟缓以及正常的核型而被诊断出患有Noonan综合征。他有轻度的精神运动迟滞。身体和神经系统检查无异常。脑磁共振图像显示左额叶顶叶的硬脑膜凸处有良好的颅内包块，增强了对比度，没有肿瘤周围的水肿。患者开始接受丙戊酸治疗，并进行了开颅手术并完全切除了肿瘤。肿瘤坚实，白灰色，无血管，可以从皮层上精细解剖。术后癫痫发作需要额外的抗惊厥治疗。他出院很顺利。病理研究发现软骨瘤成熟。随后的脑部MRI研究表明，随访33个月后没有复发迹象。讨论。软骨瘤仅占颅内肿瘤的0.3％。文献中仅报道了25例颅内硬脑膜凸性软骨瘤。已经提出了几种致病性的理论：脑膜成纤维细胞和血管周围脑膜组织的化生，成纤维细胞的创伤性或炎性软骨活化以及硬脑膜中异常的胚胎软骨生长。软骨瘤的临床特征类似于脑膜瘤。 CT扫描成像显示由于钙化程度不同而产生的密度可变，且对比度增强程度最低到中等。 MRI研究显示病变良好，周围无组织水肿，在T1加权图像上显示中等强度至低强度的异质信号，在T2加权图像上显示强度最低的混合强度。由于软骨瘤完全是无血管的，因此血管造影可以区分脑膜瘤。选择完整的肿瘤切除术，包括其硬脑膜附件。长期预后良好。由于恶性肿瘤的风险，目前不建议对残留肿瘤或无法手术的患者进行放射治疗。 Noonan综合征（也称为伪特纳综合征）是一种复杂的家族遗传病，其表型与特纳综合征相似，但没有染色体缺陷。文献中没有报道Noonan综合征对肿瘤发展的易感性。就文献而言，硬脑膜凸状软骨瘤与Noonan综合征的关联是独特的。

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