结节性硬化伴双肾多发性错构瘤2例报告

1　病例资料例 1　女性 ,35岁 ,因双侧腰部胀痛 9年伴头晕 3个月入院。患者智力正常 ,癫痫病史不详。入院体检面部多发散在棕红色丘疹 ,以前额部显著。神经系统无异常发现。尿常规示红细胞 10～15 /ＨＰ。Ｂ超显示双肾外形失常 ,显著增大 ,左肾明显 ,左肾盂分离17ｍｍ ,双肾内部见数十个大小不等的强光团及液性暗区 ;最大的强光团位于左肾下极 ,4 5ｍｍ× 35ｍｍ ,内壁光整 ,后方增强 ;肝右前叶见一 7ｍｍ×5ｍｍ的强光团 ,边界清晰。提示 :多囊肾 ;双肾多发性错构瘤 ;肝血管瘤。上腹部ＣＴ :双肾增大 ,质地蜂窝状 ,内见 2～6ｃｍ大小不等结…     

结节性硬化合并双肾错构瘤一例

病例资料患者,男,36岁,右侧腹痛并发热6天,既往曾有多次癫痫及短暂昏迷史。查体:面部见多个小皮脂腺瘤,右中上腹可触及一约10cm×10cm大小肿块,触痛,与肝下界无明显分界,肾区叩击痛,血、尿常规正常。静脉肾盂造影:右肾外压性改变,左肾多发性肾囊肿表现。临床诊断:右肾占位性病变。肾脏CT扫描示右肾体积增大,肾上极不完整,其上方可见12cm×13cm大小类圆形混合密度肿块,边界清晰,呈多房性改变,其内见大量脂肪组织,CT值为-58HU,增强后肿块内部分强化,右侧肾盂、肾盏受压、变形。左肾实质内见多发不规则低密度影,边界较清晰(图1)。CT诊断:双…     

肾错构瘤合并结节性硬化的诊断与治疗(4例报告与文献复习)

目的　进一步提高对肾错构瘤合并结节性硬化的诊断和治疗水平。方法　对 4例肾错构瘤合并结节性硬化患者的临床资料和随访情况进行回顾性分析。结果　4例肾错构瘤合并结节性硬化患者均行手术治疗,术后病理结果明确诊断,术后定期复查B超,平均随访 30个月,均无复发。结论　肾错构瘤合并结节性硬化的患者多为双侧多发性病变,如一定要行手术治疗应慎重,必须要考虑肾功能的保留问题,肾部分切除和或选择性肾动脉栓塞术为首选。     

结节性硬化症合并双肾错构瘤恶变1例

结节性硬化症（tuberous sclerosis complex，TSC）是多种器官错构瘤为特征的系统性疾病，主要临床特征为面部皮脂腺瘤、癫痫及智力减退，80％的TSC患者合并肾脏的错构瘤，很少恶变，现将1例结节性硬化症合并双肾错构瘤恶变病例报告如下。     

双肾巨大多发错构瘤1例

<正>病人,女,23岁。下腹部逐渐增大包块4年余。查体:患者智力正常。面部鼻翼两侧可见蝶形分布的粉红色坚硬蜡状丘疹,口唇周围也可见同样皮损。神经系统无异常发现。腹部呈中度不规则性隆起,左中下腹可扪及一肿物约20 cm×15 cm,右中上腹可扪及一肿物约15 cm×15 cm,两     

妊娠合并肾脏多发巨大错构瘤一例

患者　女,27岁。孕5个半月。就诊数天前无明显诱因出现左侧腹背部持续性胀感及轻微疼痛,无恶心、呕吐及排尿异常。体检:一般情况好,心肺听诊(-),腹隆起并可见妊娠纹,子宫孕约24周大小。左侧腹部可扪及约10ｃｍ大小可疑肿块。超声检查提示左肾实质性肿块,巨大癌肿可能。ＩＶＵ:右肾、输尿管显影正常,下腹部及盆腔内见胎儿影。左肾上部见巨大软组织影,上肾盏被推压并见明显移位,左肾下部肾盏积水,整个左肾影被推压向左下方移位。提示左肾上部巨大占位病变。ＣＴ检查:平扫见左肾巨大肿块,约18ｃｍ×16ｃｍ×14ｃｍ,边缘光整,其内密度欠均匀,与…     

B超诊断肾错构瘤13例报告

随着检查手段的进展（Ｂ超、ＣＴ、ＭＲＩ）肾错构瘤的发现逐渐增多，其报告者零散见于文献，专题报告者甚少。我们收集了１３例进行分析，１３例中女９例，男４例，平均年龄４９岁，性别与年龄均与文献相似。该瘤因组织结构复杂，脂肪的成多界面强回声反射而使超声影像显示清晰的边缘整齐的强回声团，且由于血管分布，仔细观察可在强回声国内发现极小的呈网状分布的低回声区，相互交错构成特征性的混合性声像图。是与其他良、亚性肿瘤声像图有显著区别的。并报告了１例并发出血和１例与ＭＲＩ对照检查的病例，进行了有关的讨论。     

灰质异位症伴多发性结节性硬化1例

脑灰质异位症是少见的疾病，特别是伴有脑内多发性结节钙化更为少见，各类杂志报道不多，现将我院遇到的一例报道如下。     

结节性硬化伴巨大肾血管平滑肌脂肪瘤2例

例1：女,36岁。偶发口角抽搐25年,近5年来感腹部包块渐大。查体：面部可见红色丘疹样红斑及扩张毛细血管,神智清醒,对答正常,智力无障碍,左右腹部触及巨大包块,移动性差,边界不清,血压120／70mmHg。实验室检查：血常规正常,尿素氮（BUN）及肌酐（CREA）正常;尿十项检验及定量尿沉渣检验正常。影像学表现：头颅CT增强扫描示左侧侧脑室前角近透明隔处一均匀强化结节,     

结节性硬化症合并多器官错构瘤1例

结节性硬化症（tuberous sclerosis complex,TSC）是神经皮肤综合征的一种,属常染色体显性遗传性疾病,为临床少见病,其临床表现和预后依其受累器官及其程度而表现多种多样.     

肝脏血管平滑肌脂肪瘤合并结节硬化的影像诊断和介入治疗

目的：探讨肝脏血管平滑肌脂肪瘤（HAML）合并结节硬化的影像诊断、鉴别诊断和介入治疗。方法：分析2例HAML合并结节硬化的临床表现、影像学表现和介入治疗方法。结果：HAML合并结节硬化具有以下表现;（1）女性2例,无乙型肝炎及肝硬化病史,肝功能及甲胎蛋白正常;（2）超声为多发的边界清楚的强回声肿块,CT为有明确脂肪密度的肿块,DSA为血供丰富,早期肝静脉引流,肿瘤染色明显。（3）10例介入治疗,术后随访42个月病灶有所缩小,另1例肝脏病灶未处理,随访10个月,肝脏病灶无变化。结论：HAML合并结节硬化的影像学表现有一定特征性,超选择动脉栓塞是治疗HAML合并结节硬化的有效方法。     

Magnetic resonance imaging of renal involvement in genetically studied patients with tuberous sclerosis complex

Purpose

To evaluate renal involvement in tuberous sclerosis complex (TSC).

Materials and methods

A series of 24 TSC patients (19 with genetically demonstrated disease), underwent abdominal 1.0-T MR imaging with axial/coronal T1- and T2-weighted scans, with/without fat saturation. We looked for angyomiolipomas (AMLs) and cysts in 47 kidneys of 24 patients. We evaluated the percentage of parenchymal involvement by manual contouring on the coronal scans in 39 kidneys of 20 patients.

Results

We detected AMLs in 15/24 (63%) patients and in 27/47 (57%) kidneys, cysts in 14/24 (58%) and in 26/47 (55%); respectively. AMLs were found in 2/4 TSC1 and in 11/15 TSC2 patients, cysts were found in 2/4 TSC1 and in 9/15 TSC2 patients. The global renal involvement ranged from 0 to 32% (median, 18%) in TSC1 and from 0 to 100% (median, 39%) in TSC2 patients. A fair correlation (r = .464) was found between patient’s age and renal involvement, a good correlation (r = 0.655) between renal involvement and creatinine clearance.

Conclusion

Renal parenchyma of TSC patients can be evaluated with MR imaging. A detectable renal involvement was found in 83% of patients, higher in TSC2 than in TSC1. Renal function seems to correlate with renal involvement quantified with MR imaging.     

MRI of two infants with tuberous sclerosis

Summary Two children (41/2 and 9 months of age) suffering from tuberous sclerosis were examined with MRI, using a 2.35-Tesla magnet. Both patients showed the typical brain lesions of tuberous sclerosis, namely, subependymal nodules projecting into the lateral ventricles and parenchymal hamartomas. However, in one child the examination revealed subcortical foci of low signal intensity on T2-weighted images and of high signal intensity on T1-weighted images, which could represent fat-containing hamartomas.     

结节性硬化症的CT诊断

目的：探讨结节性硬化症（TS）的CT诊断价值。方法：对7例结节性硬化症患者的CT图像及临床资料进行回顾性分析,7例均行头部CT平扫,3例也做了腹部CT平扫,其中1例腹部CT增强。结果：7例患者中有6例以癫痫、智力低下就诊,3例因精神异常就诊。CT均表现为双侧侧脑室室管膜下多发大小不等钙化结节影,5例脑皮层及皮层下钙化结节影,3例伴有双肾多发肾血管平滑肌脂肪瘤（angimyolipoma,AML）,1例伴有胼胝体发育不良（DCC）,1例伴有脾肿大。结论：结节性硬化症具有特征性的临床与CT表现,CT扫描对结节性硬化症的诊断具有很高的价值。     

Angiographic and volumetric effects of mammalian target of rapamycin inhibitors on angiomyolipomas in tuberous sclerosis

AIM: To investigate the angiographic and volumetric effects of mammalian target of rapamycin (mTOR) inhibitors on angiomyolipomas (AMLs) in a case series of patients with tuberous sclerosis complex.METHODS: All patients who underwent catheter angiography prior to and following mTOR inhibitor therapy (n = 3) were evaluated. All cross-sectional imaging studies were analyzed with three-dimensional volumetrics, and tumor volume curves for all three tissue compartments (soft tissue, vascular, and fat) were generated. Segmentation analysis tools were used to automatically create a region of interest (ROI) circumscribing the AML. On magnetic resonance images, the “fat only” map calculated from the in- and opposed-phase gradient recalled echo sequences was used to quantify fat volume within tumors. Tumor vascularity was measured by applying a thresholding tool within the ROI on post-contrast subtraction images. On computed tomography images, volume histogram analysis of Hounsfield unit was performed to quantify tumor tissue composition. The angiography procedures were also reviewed, and tumor vascularity based on pre-embolization angiography was characterized in a semi-quantitative manner.RESULTS: Patient 1 presented at the age of 15 with a 6.8 cm right lower pole AML and a 4.0 cm right upper pole AML. Embolization was performed of both tumors, and after a few years of size control, the tumors began to grow, and the patient was initiated on mTOR inhibitor therapy. There was an immediate reduction in the size of both lesions. The patient then underwent repeat embolization and discontinuation of mTOR inhibition, after which point there was a substantial regrowth in both tumors across all tissue compartments. Patient 2 presented at the age of 18 with a right renal AML. Following a brief period of tumor reduction after embolization, she was initiated on mTOR inhibitor therapy, with successful reduction in tumor size across all tissue compartments. As with patient 1, however, there was immediate rebound growth following discontinuation of inhibitor therapy, without sustained control despite repeat embolization. patient 3 presented at the age of 5 with a left renal AML and underwent two embolization procedures without lasting effect prior to starting mTOR inhibition. As with patients 1 and 2, following discontinuation of therapy, there was immediate rebound growth of the tumor. Repeat embolization, however, was notable for a substantial reduction in intratumoral aneurysms and vascularity.CONCLUSION: AML volume reduction as well as post-treatment rebound growth due to mTOR inhibitors involves all three tissue components of the tumor.     

儿童脑结节性硬化的CT诊断（附36例分析）

目的：探讨儿童脑结节性硬化的CT表现。方法：回顾性分析36例儿童脑结节性硬化的CT表现，总结其影像学特征。结果：29例患者CT表现为室管膜下结节；6例为皮质和皮质下结节；1例为白质结节。钙化结节CT增强扫描不强化，非钙化结节CT增强扫描可见轻至中度强化。结论：儿童脑结节性硬化的CT表现具有一定的特征性，密切结合临床，可提高非典型病例CT表现的诊断准确性。     

结节性硬化的影像诊断

目的:探讨分析结节性硬化的临床表现及影像学特点。方法:回顾分析7例结节性硬化病例的临床、影像学表现并作文献复习。7例中,男性4例,女性3例,平均年龄38岁;其中3例有轻度的智力障碍,1例有阵发性抽搐;3例有典型的面部皮脂腺瘤及/或腰骶部颗粒斑。结果:7例病人头颅CT扫描都有不同程度的脑室室管膜下及脑皮层、脑白质的钙化结节;头颅MRI表现为室管膜下结节,室壁呈波浪状改变,其中1例可见巨细胞星形细胞瘤;6例可见双肾多发错构瘤,1例可见肝脏错构瘤。结论:结节性硬化的临床及影像学表现有一定特征性,CT及MRI在结节性硬化中的诊断具有十分重要的价值。     

儿童结节性硬化症14例的磁共振表现

目的 探讨结节性硬化症(TSC)的磁共振影像表现。方法 收集2002年3月至2005年4月间临床证实的结节性硬化症14例,全部病例均进行MR检查,其中3例进行增强检查。不合作儿童检查前采用6.5%水合氯醛保留灌肠镇静睡眠。结果 全部病例均显示大小不等(1~5mm)的室管膜下结节。皮层或皮层下结节10例,表现为脑回核心样病灶和H型病灶。白质异常信号6例,分别呈线状、楔形、不规则形。室管膜下巨细胞星形细胞瘤2例,肾血管平滑肌脂肪瘤1例。结论 MRI对TSC诊断的敏感性高,是首选的影像学检查方法。室管膜下结节是TSC最重要的MR影像学表现之一,以T1加权成像(T1WI)及梯度回波序列显示效果最佳。T2加权成像(T2WI)及液体衰减反转恢复序列(FLAIR)对TSC大脑皮层或皮层下区结节、脑白质区病灶的显示优于T1WI。     

Autopsy findings in a case of tuberous sclerosis

Tuberous sclerosis is a neurocutaneous disorder with autosomal dominant inheritance. It is characterized by the triad of seizures, mental retardation, angiofibromas of the face though the triad is not always complete. We incidentally encountered a case of tuberous sclerosis in a case of hanging. He was an epileptic. Autopsy findings included unusual findings of myocardial and renal lipomata. He also had cortical thickening of bones, cortical tubers of brain, polycystic kidney disease.     

Unrecognized atypical tuberous sclerosis diagnosed with CT

Summary Past experience in this hospital has shown that the neuroradiological diagnosis of tuberous sclerosis is often made before the diagnosis is clinically suspected. We present a child in such a circumstance in whom axial and coronal CT demonstrated significant neoplastic progression of this disease. The presenting symptom was merely that of increased intracranial pressure.