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CT在结节性硬化症遗传咨询中的价值。

The value of CT in genetic counseling in tuberous sclerosis.

作者信息

Scotti L N, Bartoletti S C, Rosenbaum A, Ackerman M I

出版信息

Pediatr Radiol. 1980;9(1):1-4. doi: 10.1007/BF00973960.

Abstract

The families of two patients with known tuberous sclerosis were electively evaluated by computed tomography. The CT positive (and negative) examination proved to be valuable for the genetic counseling of family members without overt clinical manifestations of tuberous sclerosis. Two patients had evidence of smaller enhancing lesions (minimal demonstrable mass without hydrocephalus) following intravenous contrast enhancement. We, therefore, suggest the use of contrast enhanced scans in addition to the plain scans to identify what may represent occult neoplasms. Abdominal CT scans can prove useful in identifying the frequently associated renal hamartomas.

摘要

对两名已知患有结节性硬化症患者的家属进行了选择性计算机断层扫描评估。CT检查呈阳性(及阴性)结果对于结节性硬化症无明显临床表现的家庭成员的遗传咨询很有价值。两名患者在静脉注射造影剂增强后有较小的强化病变(无脑积水的最小可显示肿块)迹象。因此,我们建议除平扫外还使用增强扫描,以识别可能代表隐匿性肿瘤的情况。腹部CT扫描在识别常见的相关肾错构瘤方面可能很有用。

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