Zhang Le, Jiang Xin-Yue, Chen Ni, Hao Nan-Ya, Zhou Dong, Li Jin-Mei
Department of Neurology Department of Pathology, West China Hospital, Sichuan University, Chengdu, Sichuan Province, China.
Medicine (Baltimore). 2018 Apr;97(15):e0407. doi: 10.1097/MD.0000000000010407.
Tuberous sclerosis complex (TSC) is an uncommon multiple systems disorder. The main characteristics of the disease in the central nervous system include cortical or subcortical tubers, subependymal nodules, and subependymal giant cell astrocytoma. However, progressive cystic lesions in the cerebral hemispheres have rarely been reported in previous studies of TSC.
We present the case of a 35-year-old man with TSC who was admitted to our hospital for a sudden attack of serious headache, vomiting, and left hemiplegia. Brain computerized tomography and magnetic resonance imaging (MRI) revealed multiple subependymal calcific nodes and multiple cystic lesions in the right frontal, temporal, and parietal lobes. The solid nodule in the lesion demonstrated contrast enhancement.
The patient was diagnosed with TSC, but the properties of the cystic lesion in the brain were unclear and a tumor was suspected.
Emergency operation was performed immediately. Pathological examination of the lesion revealed a vascular malformation, but no tumor cells.
In the fourth year after the surgery, brain MRI revealed a relapse of the cystic mass and surgery was suggested again. However, the patient refused to undergo surgery again.
This case describes an atypical MRI presentation of TSC occurring in middle-age. This condition can cause a life-threatening condition and may recur after surgery. Our finding emphasizes the importance of neuroimaging surveillance in patients older than 25 years old and after lesion resection.
结节性硬化症(TSC)是一种罕见的多系统疾病。该疾病在中枢神经系统的主要特征包括皮质或皮质下结节、室管膜下结节和室管膜下巨细胞星形细胞瘤。然而,在先前关于TSC的研究中,很少报道大脑半球的进行性囊性病变。
我们报告了一例35岁的TSC男性患者,因突发严重头痛、呕吐和左侧偏瘫入院。脑部计算机断层扫描和磁共振成像(MRI)显示右侧额叶、颞叶和顶叶有多个室管膜下钙化结节和多个囊性病变。病变中的实性结节有对比增强。
患者被诊断为TSC,但脑部囊性病变的性质不明,怀疑为肿瘤。
立即进行了急诊手术。病变的病理检查显示为血管畸形,但未发现肿瘤细胞。
术后第四年,脑部MRI显示囊性肿块复发,建议再次手术。然而,患者拒绝再次手术。
本病例描述了中年TSC患者非典型的MRI表现。这种情况可导致危及生命的状况,且术后可能复发。我们的发现强调了对25岁以上患者及病变切除后进行神经影像学监测的重要性。