1 Department of Radiology, Saint Vincent Hospital, 123 Summer St, Worcester, MA 01608.
AJR Am J Roentgenol. 2015 May;204(5):933-43. doi: 10.2214/AJR.13.12235.
The purposes of this article are to describe the abdominal manifestations of tuberous sclerosis, including renal and hepatic angiomyolipomas, splenic hamartomas, and renal cysts; the differentiation of renal angiomyolipomas from renal cell carcinoma by use of various imaging modalities; and the key imaging findings of intracranial subependymal nodules, giant cell astrocytomas, cortical tubers, lymphangioleiomyomatosis, cardiac rhabdomyomas, and osseous lesions.
Tuberous sclerosis is an autosomal dominant neurocutaneous syndrome characterized by various abnormalities, including multisystemic hamartomas. Correct diagnosis of this syndrome is imperative, not only by detecting cutaneous manifestations at physical examination but also by recognizing the characteristic multimodality imaging findings. Patients can present with a variety of symptoms, ranging from seizures to acute abdomen with life-threatening hemorrhage. The mortality rate is as high as 40% by the age of 35 years.
本文旨在描述结节性硬化症的腹部表现，包括肾和肝血管平滑肌脂肪瘤、脾错构瘤和肾囊肿；各种影像学方法对肾血管平滑肌脂肪瘤与肾细胞癌的鉴别；颅内室管膜下结节、巨细胞星形细胞瘤、皮质结节、淋巴管平滑肌瘤病、心脏横纹肌瘤和骨病变的主要影像学发现。
结节性硬化症是一种常染色体显性神经皮肤综合征，其特征为多种异常，包括多系统错构瘤。正确诊断该综合征至关重要，不仅要通过体格检查发现皮肤表现，还要识别特征性的多模态影像学发现。患者可表现为多种症状，从癫痫发作到危及生命的大出血性急腹症。到 35 岁时，死亡率高达 40%。
