Rodríguez Vela L, Ariño I, Liédana J M, Horndler C, Roncalés A, Rioja C, Rioja L A
Arch Esp Urol. 1989 Jun;42(5):423-31.
We report on a 25-year-old patient diagnosed as having Bourneville tuberous sclerosis with a giant angiomyolipoma 16 X 12 cm. in diameter, and two small angiomyolipomas in the left kidney, multiple asymptomatic angiomas in the right kidney and two 1 cm. diameter angiomas in the liver. The presenting features were intense left-sided abdominal pain of sudden onset, frank hematuria, acute anemic syndrome, nausea and vomiting. Patient work up included x-ray of chest, abdomen, and skull, bilateral renal arteriography and ultrasound were diagnostic of Bourneville tuberous sclerosis with multiple bilateral renal angiomyolipomas. The hematologic and hemodynamic compromise and the almost completely absent intact parenchyma in her left kidney did not permit a conservative surgical procedure and the patient was submitted to a left nephrectomy. The patient had the following characteristic features of Bourneville's disease: epilepsy, intracranial calcifications on CT, sebaceous adenomas on face, fibromas under nails of left hand and foot, bony lesions in the form osteosclerosis and chylous pleural effusion. Her intelligence level was normal and no optic nerve phakomas were observed. The literature on angiomyolipoma and Bourneville's tuberous sclerosis is reviewed. The importance of using ultrasound and CT in combination to diagnose and follow up renal angiomyolipomas is highlighted. Treatment of angiomyolipomas must be based on two parameters: symptoms and size. Symptomatic angiomyolipomas warrant angiographic work up and selective arterial embolization or the most conservative surgical procedure possible (enucleation, partial nephrectomy). Asymptomatic angiomyolipomas warrant CT and/or ultrasound examination every 6 or 12 months depending on size.
我们报告了一名25岁的患者，被诊断为患有结节性硬化症（Bourneville病），其左肾有一个直径为16×12厘米的巨大血管平滑肌脂肪瘤，左肾还有两个小的血管平滑肌脂肪瘤，右肾有多个无症状血管瘤，肝脏有两个直径为1厘米的血管瘤。该患者的临床表现为突发剧烈的左侧腹痛、肉眼血尿、急性贫血综合征、恶心和呕吐。患者的检查包括胸部、腹部和颅骨的X光检查，双侧肾动脉造影和超声检查诊断为结节性硬化症伴双侧多发肾血管平滑肌脂肪瘤。由于血液学和血流动力学方面的损害以及左肾几乎完全没有完整的实质组织，不允许进行保守的手术治疗，因此该患者接受了左肾切除术。该患者具有结节性硬化症的以下特征：癫痫、CT显示颅内钙化、面部皮脂腺腺瘤、左手和左脚指甲下有纤维瘤、骨硬化形式的骨病变和乳糜性胸腔积液。她的智力水平正常，未观察到视神经错构瘤。本文回顾了关于血管平滑肌脂肪瘤和结节性硬化症的文献。强调了联合使用超声和CT来诊断和随访肾血管平滑肌脂肪瘤的重要性。血管平滑肌脂肪瘤的治疗必须基于两个参数：症状和大小。有症状的血管平滑肌脂肪瘤需要进行血管造影检查，并进行选择性动脉栓塞或尽可能保守的手术治疗（摘除术、部分肾切除术）。无症状的血管平滑肌脂肪瘤根据大小每6或12个月进行一次CT和/或超声检查。
