结节性硬化症多器官病变的临床特点及影像学诊断价(附3例报告)

目的：探讨结节性硬化症累及多器官病变的临床特点及影像学诊断价值。方法：回顾性分析3例结节性硬化症伴大脑、肾脏、皮肤、肝脏，脾脏、骨骼等多部位病灶的症状，体征及其影像学表现。结果：1例有典型的结节性硬化“三联征”表现，3例均有典型的面部皮疹，1例有癫痫发作史。3例颅脑CT均发现典型的大脑钙化结节灶，3例均伴双肾多发性错构瘤，2例CT及B超检查发现肝脏多发错构瘤，1例有脾脏占位性病变，2例行X线平片，CT及同位素骨扫描显示腰骶椎，髂骨及颅骨存在骨密度增高灶，肝、脾及骨骼病变均无明显症状，结论：结节性硬化症是一种可累及大脑，肾脏，皮肤，肝、脾，骨骼等多系统器官的综合征，颅脑CT显示脑室管膜下钙化灶，对诊断具有特异性，影像学检查可以发现多发性无症状病灶。

Multiple organ involvement in three patients with tuberous sclerosis

Purpose:To evaluate the clinical features of tuberous sclerosis with multiple organs involvement and the diagnostic value of radiographic study.Methods:Symptoms, physical signs and radiographic features in three cases of tuberous sclerosis with multiple lesions in brain, kidney, skin, liver, spleen and bone were reviewed.Results:The age range was 17 to 44 years, two of them were women. One patient presented with the classic triad features of which were facial angiofibroma, seizures, and mental retardation, facial angiofibroma occurred in three and seizures was found in one. Brain CT revealed classical calcified subependymal in three cases. Bilateral and multiple renal angiomyolipomas were found in all three patients. Hepatic hamartomas in two and splenic mass in one were discovered by abdominal ultrasonography and CT. X ray, CT and radionuclide Tc 99m bone scan showed increased bone density in spine, pelvis and frontal bone in two cases. Lesions in liver, spleen and bone caused no symptoms.Conclusions:Tuberous sclerosis is a multisystem syndrome which may involve multiple organs, including brain, kidney, skin, liver, spleen and bone. Calcified subependymal nodules seen on a non-enhanced CT are pathognomonic of TSC. Radiographic study may reveal asymptomatic lesions in multiple organs.