摘要
结节性硬化症(TSC)是一种常见的神经皮肤综合征,遗传为常染色体显性模式,几乎影响身体的每个器官系统,导致各种错构瘤病变。经典的描述为皮脂腺瘤、智力障碍和癫痫的临床三联征。血管平滑肌脂肪瘤(AML)是最常见的良性肾间质肿瘤,由脂肪、血管和平滑肌组成。它可以零星出现,也可能与结节性硬化症有关。
我们报告一例罕见的自发性巨大假动脉瘤伴血肿形成的肾血管平滑肌脂肪瘤,患者为25岁女性,伴TSC,表现为右侧腹部疼痛和压痛5天,发热2天。患者接受急诊选择性肾血管造影并栓塞,以阻止肾内出血和防止未来再出血。
肾血管平滑肌脂肪瘤合并结节性硬化症是罕见的。有时可能需要经动脉栓塞来止血或预防病变内假性动脉瘤破裂。当血管介入设备不可用时,可能需要手术。
关键字
血管平滑肌脂肪瘤,血管造影,栓塞,结节性硬化,超声
简介
结节性硬化症(结节性硬化症,TSC)是一种常见的神经皮肤综合征,遗传为常染色体显性模式,影响细胞分化、增殖和迁移的早期发育,导致各种错构瘤病变。经典的描述为皮脂腺瘤、智力障碍和癫痫的临床三联征。它可能会影响身体的几乎每个器官系统,最常见的是大脑、皮肤、眼睛、心脏、肾脏和肺。
血管平滑肌脂肪瘤(AMLs)是最常见的良性间质性肾脏病变,起源于血管周围上皮样细胞,除梭形细胞外,还由脂肪、血管和平滑肌成分组成。它可以零星发生,也可能与结节性硬化症有关。根据JA Cook的研究研究出版社,血管平滑肌脂肪瘤是最常见的良性肾脏病变,发生在49%的患者中,其中91%和84%分别为多发性和双侧[1]。
我们在此报告一例合并TSC的肾血管平滑肌脂肪瘤(AML)中自发性巨大假性动脉瘤和血肿形成的病例。
病例报告
一名25岁女性患者,主诉为右腰疼痛5天,多次呕吐和发热2天,就诊经腹部超声检查。她有五个兄弟姐妹,没有任何TSC的污名。检查时,患者有面部皮脂腺瘤、多处沙绿色斑块和甲周纤维瘤等外部病耻感(图1A-D),面色苍白,右侧有压痛。
图1.25岁女性,结节性硬化症,表现为右侧疼痛,发热和贫血,显示以下外部红斑一个。面部皮脂腺瘤(白色箭头)。B。沙绿斑块(白色箭头)。C.手部甲下纤维瘤(白色箭头)。D.足部甲下纤维瘤(白色箭头)。
使用4-5.5 MHz曲线换能器(Logiq P5, GE Milwaukee美国)进行超声检查,显示右侧肾脏肿大,双肾多发异质回声肿块病变(图2A和2B)。右肾最大病变显示中央无回声和周围厚高回声区(图2A和2C)。在彩色多普勒上,中心消声区测量为4.3 cm x 3.8 cm,并显示“来回旋转”的颜色流动(图2 C&D)。
图2。25岁女性结节性硬化症患者右肾超声表现为右侧疼痛、发热和贫血,显示肾血管平滑肌脂肪瘤。一个。扫描显示增大的右肾伴2个回声血管平滑肌脂肪瘤(白色箭头),中极较大的显示内部圆形低回声中心。B。左肾扫描显示下极回声血管平滑肌脂肪瘤(箭头)。C。右肾中极病变放大图,显示中央无回声区。D。右肾病变的彩色多普勒显示中央有一个大的无回声区,且有湍流的阴阳流提示假性动脉瘤(箭头)。
同一天,使用128多层计算机断层扫描(CT) SOMATOM Definition AS (Siemens AG, Germany)和1.5特斯拉MAGNETOM Avanto (Siemens AG, Germany)磁共振成像(MRI)对大脑和腹部进行横断面成像。脑部CT平扫显示多发钙化室管膜下结节(图3A)。MRI显示多发T2高强度皮质结节(图3B)。腹部增强CT扫描显示双侧肾脏多发异密度肾块病变,伴软组织和脂肪衰减成分区(HU= -45 ~ -80)提示多发aml。右侧肾中部最大的AML尺寸为9cm x 8cm x 9cm,显示中心圆形非强化伪动脉瘤面积为4.3 cm x 3.8 cm x 4.9 cm,提示自发血栓形成。轻度腹水。腹部其余部分无明显变化(图3C)。
图3。25岁女性结节性硬化症,表现为右侧疼痛、发热和贫血一个.CT平扫见多发钙化室管膜下结节(白色箭头)。B.onT2WI MRI显示多发高强度皮质结节(白色箭头)。C.双侧血管平滑肌脂肪瘤表现为双侧肾脏脂肪致密病变(白色箭头),最大病灶位于右侧中极。右肾病变中心部无强化提示血栓形成。
基于以上发现,我们诊断了一个右肾AML合并TSC的巨大假性动脉瘤和血肿形成。
由于病人严重贫血,她被输注了多个红细胞单位。稳定后,在BV Endura c臂x光机(Philips,荷兰)上进行紧急数字减影血管造影(DSA)。选择性右肾血管造影术显示一个巨大的肿瘤,极中段动脉供血扩大,没有假性动脉瘤,因为它有血栓形成(图4A)。在使用1.8F微雪貂导管(Cook, USA)使用PVA 200颗粒(Cook, USA)对喂食器进行选择性置管后进行栓塞,以防止未来再出血的风险(图4B)。
The blood vessels in AML are tortuous and thick walled with absence supportive elastic tissue which predisposes to the formation of intralesional pseudoaneurysm. Renal angiomyolipoma can bleed spontaneously, especially if they are larger than 3.5 cm in diameter, producing intrarenal or extrarenal hemorrhages in the form of retroperitoneal hematoma, hematuria or both [5].
TSC-associated angiomyolipoma tend to be multiple,large in size and more likely to cause spontaneous haemorrhage than the sporadic forms [6]. Tumor and aneurysm diameters have been used as a criterion for predictors of rupture and hence the need of prophylactic treatment. There is increased incidence of pseudoaneurysm formation in angiomyolipomas larger than 4cm and increased possibility of rupture if the pseudoaneurysm is 5 mm or large [7]. Only a few cases of large pseudoaneurysm associated with TSC is described in the literature [8,9]. In our case the angiomyolipoma (including hematoma) and the pseudoaneurysm were quite large measuring 9 cm x 8 cm x 9 cm and 4.3 cm x 3.8 cm x 4.9 cm respectively.
Most angiomyolipomas being a benign and asymptomatic can be managed conservatively with regular follow up imaging. Intervention is required when there is suspicion of malignancy or a large pseudoaneurysm formation which has risk of spontaneous haemorrhage. It can be treated by minimally invasive radiological procedures such superselective renal embolization [5,10]. We performed selective embolization to prevent future rebleed within the large angiomyolipoma. On rare occasions, it may require partial or complete nephrectomy when bleeding cannot be controlled especially if embolization facility is not available.
Conclusion
Whenever there are multiple angiomyolipoma in kidney, the diagnosis of tuberous sclerosis complex must be ruled out. There is an increased incidence of pseudoaneurysm formation within AMLs associated with TSC or when lesion size is larger than 4 cm. Larger the aneurysm size, greater are the chances of rupture and fatality. Treatment,such as prophylactic transarterial superselective embolization of angiomyolipoma, is performed to decrease the risk of spontaneous hemorrhage when angiomyolipoma has already bled or exceeds the size criteria.
Acknowledgements
We thank the staffs of the Department of Radiology and Imaging at NEIGRIHMS, Shillong, Meghalaya.
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