Umeoka Shigeaki, Koyama Takashi, Miki Yukio, Akai Mikio, Tsutsui Kazushige, Togashi Kaori
Department of Radiology, Japanese Red Cross Society, Wakayama Medical Center, Wakayama, Japan.
Radiographics. 2008 Nov-Dec;28(7):e32. doi: 10.1148/rg.e32. Epub 2008 Sep 4.
Tuberous sclerosis is a rare autosomal dominant neurocutaneous syndrome characterized by the presence of benign congenital tumors in multiple organs. The diagnosis is usually established on the basis of diagnostic criteria applied to physical or radiologic findings. Because the classical triad of epilepsy, mental retardation, and adenoma sebaceum is uncommonly seen at clinical examination, radiologic examinations can play an important role in the diagnosis of tuberous sclerosis and in treatment. Cardiac rhabdomyoma, renal angiomyolipoma, and neurologic involvement encompassing cortical or subependymal tubers and white matter abnormalities are the common radiologic findings. Detection of these entities can be strong evidence for suspecting tuberous sclerosis. The presence of pulmonary lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, or multiple renal cysts also raises suspicion of tuberous sclerosis. Moreover, tuberous sclerosis can involve bone, liver, and the alimentary tract. The clinical course and patient prognosis depend on the sites of manifestations. Familiarity with the clinical and radiologic findings in various organs is crucial in diagnosis and treatment.
结节性硬化症是一种罕见的常染色体显性遗传神经皮肤综合征，其特征是多个器官存在良性先天性肿瘤。诊断通常基于应用于体格检查或影像学检查结果的诊断标准。由于癫痫、智力发育迟缓和平滑肌瘤三联征在临床检查中并不常见，影像学检查在结节性硬化症的诊断和治疗中可发挥重要作用。心脏横纹肌瘤、肾血管平滑肌脂肪瘤以及包括皮质或室管膜下结节和白质异常的神经受累是常见的影像学表现。检测到这些病变可为怀疑结节性硬化症提供有力证据。肺淋巴管平滑肌瘤病、多灶性微小结节性肺细胞增生或多发性肾囊肿的存在也会增加对结节性硬化症的怀疑。此外，结节性硬化症可累及骨骼、肝脏和消化道。临床病程和患者预后取决于表现部位。熟悉各器官的临床和影像学表现对于诊断和治疗至关重要。
