结节性硬化合并室管膜下巨细胞型星形细胞瘤临床及影像学特点分析

目的 探讨结节性硬化合并室管膜下巨细胞型星形细胞瘤患者的临床特点及影像学特征,以便及早诊断与治疗.方法 收集三九脑科医院神经内科自2007年7月至2009年8月诊断为结节性硬化的48例患者的临床资料,根据患者病史、体征及影像学检查结果分析其中合并室管膜下巨细胞型星形细胞瘤的患者的临床特点和影像学特征.结果48例中4例患者合并有室管膜下巨细胞型星形细胞瘤,其中2例合并梗阻性脑积水.4例患者均为男性,平均发病年龄5岁(1～12岁);均有癫痫发作及皮肤损害,其中3例患者伴有智力低下.室管膜下巨细胞型星形细胞瘤在CT呈等密度或略低密度,有些瘤内可见钙化,呈高密度影;MRI上T1WI呈等低混合信号,T2WI呈等或高信号,FLAIR序列呈高信号,合并钙化则信号强度不均匀,增强后常有明显强化.结论 部分结节性硬化患者可合并室管膜下巨细胞型星形细胞瘤,肿瘤生长缓慢,常邻近室间孔周围,易发生梗阻性脑积水.对于结节性硬化患者应进行长期追踪,以尽早发现肿瘤.

Clinical and imaging features of tuberous sclerosis combined with subependymal giant cell astrocytoma

Objective To analyze the clinical and imaging features of subependymal giant cell astrocytomas in patients with tuberous sclerosis.Methods The clinical data of 48 patients with tuberous sclerosis,admitted to our hospital from July 2007 to August 2009,were collected.According to the patients' history,sign and MRI results,the clinical features and imaging characteristics of subependymal giant cell astrocytomas were analyzed.Results Four patients with tuberous sclerosis were diagnosed as having subependymal giant cell astrocytomas and 2 of them were also diagnosed as having obstructive hydrocephalus;these 4 patients were male with an average onset age of five years (ranged from 1 to 12 years old).Seizure and skin lesions were found in these 4 patients with 3 presenting cognitive dysfunction.CT scanning showed iso-density or slightly low density in subependymal giant cell astrocytornas and some of these tumors were calcified with high density.MRI showed TIWI iso-signal or low signal and T2WI iso-signai or high signal; FLAIR high signal was presented and asymmetrical signal was also shown when calcification happened;enhanced MRI showed significant intensification on the tumors.Conclusion Some patients with tuberous sclerosis can have subependymal giant cell astrocytomas,the slow-growing tumors,which are often adjacent to the foramen of Monro and lead to obstructive hydrocephalus.Long-term follow-up needs to be conducted to find tumors at an early stage in patients with tuberous sclerosis.