Esmat Habib Ahmad
Department of Radiology, Kabul University of Medical Sciences, Kabul, Afghanistan.
Ann Med Surg (Lond). 2022 Jun 22;79:104024. doi: 10.1016/j.amsu.2022.104024. eCollection 2022 Jul.
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by inactivating mutations in TSC1 or TSC2 genes, resulting in benign lesions that involve multiple organs including the central nerves system.
A 39-year-old male of known TSC presented with inability to walk for two months. On physical examination, he was consciously oriented and cooperative, but he had spastic tetraparesis in the muscle-motor examination. On brain imaging, cystic lesions of various sizes in the supra and infratentorial regions were observed, consistent with giant cyst-like tubers. However, they could not differentiate from TSC related brain tumors based on the imaging findings. He underwent surgical intervention to resect/evacuate the large cystic lesion, which had the mass effects on the brain stem. The pathologic examinations revealed no malignant changes.
Although the cyst-like lesions in the cortex and white matter have been reported in several previous studies of TSC, they usually had a small size and similar intensity to CSF on T2- weighted MRI and low intensity on FLAIR images.
Giant cyst-like cortical tubers are exceedingly rare and atypical findings of tuberous sclerosis complex, which are usually associated with epilepsy and neurological deficits. Though many authors recommend the brain MRI as a screening tool for patients with TSC once every 1-3 years until the age of 25, our report showed that the brain lesions may develop in patients with TSC even after the age of 25. Thus, the MRI should be used periodically in all patients with TSC to timely detect the brain lesions and prevent the patient's disability. Surgical resection is the mainstay of treatment for the symptomatic cystic-like cortical tuber; however, it may recur after resection.
结节性硬化症（TSC）是一种常染色体显性疾病，由TSC1或TSC2基因的失活突变引起，导致包括中枢神经系统在内的多个器官出现良性病变。
一名已知患有TSC的39岁男性，出现两个月无法行走的症状。体格检查时，他意识清醒、定向正常且配合检查，但在肌肉运动检查中存在痉挛性四肢瘫。脑部影像学检查发现幕上和幕下区域有各种大小的囊性病变，与巨大囊肿样结节一致。然而，根据影像学表现无法将其与TSC相关的脑肿瘤区分开来。他接受了手术干预，切除/排空了对脑干有占位效应的大囊性病变。病理检查未发现恶性变化。
尽管先前有几项关于TSC的研究报告了皮质和白质中的囊肿样病变，但它们通常体积较小，在T2加权MRI上与脑脊液信号强度相似，在液体衰减反转恢复（FLAIR）图像上呈低信号。
巨大囊肿样皮质结节是结节性硬化症极为罕见且不典型的表现，通常与癫痫和神经功能缺损相关。尽管许多作者建议对TSC患者每1 - 3年进行一次脑部MRI筛查，直至25岁，但我们的报告显示，TSC患者即使在25岁以后也可能出现脑部病变。因此，应定期对所有TSC患者进行MRI检查，以及时发现脑部病变并预防患者残疾。手术切除是有症状的囊肿样皮质结节的主要治疗方法；然而，切除后可能会复发。
