结节性硬化症的颅脑及肾脏影像学表现与治疗

目的 探讨结节性硬化症伴多脏器损害的影像学特点.方法 回顾性分析19例结节性硬化症伴皮肤、大脑、肾脏、肝脏等多器官损害的病例资料、临床表现及影像学改变.结果 CT显示室管膜下多发胶质结节及皮层灰质结节呈等密度,钙化结节为高密度,室管膜下病灶多突入侧脑室内,伴有脑积水和肿瘤.MRI 病变T1WI呈等或低信号,T2WI呈高...     

脑结节硬化的影像学分析（附8例报告）

目的分析脑结节硬化的CT和MRt表现，探讨其临床应用价值。方法回顾性分析8例脑结节硬化患者的CT和MRI表现。其中男5例，女3例，年龄4个月～19岁。3例行CT平扫、MRI平扫及增强扫描，1例行CT平扫、MRt平扫，3例仅行MRI平扫，1例仅行CT平扫。结果5例CT平扫均表现为侧脑室室管膜下结节状钙化，2例伴有室管膜下等密度影，1例伴有右侧顶叶点状钙化，2例并发室管膜下巨细胞星形细胞瘤。7例MRI平扫均表现为窒管膜下短T．短T2信号影，伴有大脑皮层及白质区片状长T1短T2信号灶3例，稍长T，长T2信号灶1例，短T1短T2信号灶1例。2例并发室管膜下巨细胞星形细胞瘤，1例伴有小脑蚓部发育不良，2例伴有幕上脑室扩大，脑积水。结论脑结节硬化在CT、MRI上表现较具特征性，二者结合能有效提高该病的诊断率。     

外用西罗莫司治疗结节性硬化症面部血管纤维瘤研究进展

结节性硬化症是一种常染色体显性遗传的神经皮肤综合征,引起多器官错构瘤。60%的病人伴面部血管纤维瘤,严重时可致毁容。口服哺乳动物西罗莫司靶蛋白(mammalian target of rapamycin,m TOR)抑制剂如西罗莫司可治疗结节性硬化相关症状,提出外用西罗莫司治疗面部血管纤维瘤效果较好,本文就西罗莫司的作用机制、临床治疗效果、不良反应做一综述。     

结节性硬化症合并肺淋巴管肌瘤病2例诊治体会

目的：为提高对结节性硬化症合并肺淋巴管肌瘤病的认识和诊治水平,回顾性分析2例结节性硬化症合并肺淋巴管肌瘤病患者的临床资料。2例患者均有肺部特征性囊性改变、肾血管平滑肌脂肪瘤及不同程度的皮肤损害。1例患者有中枢神经系统受累;1例接受雷帕霉素治疗后肺部及肾病变显著改善。结节性硬化症患者临床表现多样,合并肺淋巴管肌瘤病时有特征性影像学改变,对肺部淋巴管疾病患者应做结节性硬化症的筛查。雷帕霉素对该病治疗有显著疗效。     

80例结节性硬化症综合分析

目的：探讨结节性硬化症（TS）的脑电图（EEG）和头颅CT的特征及其与临床的关系。方法：对80例TS进行EEG和头颅CT检查。结果：80例TS头颅CT均发现钙化结节，其中93．75％的TS发现室管膜下钙化结节，83．75％的TS发现脑实质钙化结节。90％的TS患者EEG显示不同程度的异常，EEG异常波多为阵发性高幅慢波、棘（尖）波及棘（尖）慢复合波。结论：EEG配合头颅CT检查对TS的临床诊断、治疗和疗效评估具有重要价值。     

80例结节性硬化症综合分析

目的探讨结节性硬化症(TS)的脑电图(EEG)和头颅CT的特征及其与临床的关系.方法对80例TS进行EEG和头颅CT检查.结果80例TS头颅CT均发现钙化结节,其中93.75%的TS发现室管膜下钙化结节,83.75%的TS发现脑实质钙化结节.90%的TS患者EEG显示不同程度的异常,EEG异常波多为阵发性高幅慢波、棘(尖)波及棘(尖)慢复合波.结论EEG配合头颅CT检查对TS的临床诊断、治疗和疗效评估具有重要价值.     

Insulinoma in tuberous sclerosis: An entity not to be missed

Pancreatic neuroendocrine tumors are rare with an incident rate of 5 cases per million individuals. Tuberous sclerosis complex is an autosomal dominant disease. This disease involves multisystem and occurs in one out of every 6,000-10,000 individuals. In this study, we describe a 47-year-old male known tuberous sclerosis patient with an insulinoma. The tumor was incidentally detected in follow-up imaging for a previous ampulla of Vater tubular adenoma. However, the patient reported symptoms of hypoglycemia. The insulinoma was enucleated successfully. Histopathology revealed a well-differentiated, grade one neuroendocrine tumor measuring around 2 cm in diameter. Seven cases were reported in the literature of tuberous sclerosis-associated insulinoma. The 7 reported cases had different hypoglycemia related symptoms. The reported tumors varied in size and location on the pancreas. This paper details the eighth case worldwide where an insulinoma occurred in a tuberous sclerosis patient.     

3例结节性硬化症合并肾血管平滑肌脂肪瘤的诊断与治疗

目的：探讨结节性硬化症伴巨大肾血管平滑肌瘤（AML）的临床诊治特点和自发性肾破裂出血的治疗措施。方法：报告3例结节性硬化症伴多发性双肾AML的临床诊治资料。3例均为女性,年龄16～26岁,均有典型的智力低下、面部皮脂腺瘤体症,2例因腰部剧烈胀痛伴休克入院,1例因腹胀并癫痫发作入院。3例均经CT检查证实大脑钙化结节灶。结果：1例行DSA肾肿瘤栓塞治疗,1例行肾切除术治疗,1例经抗癫痫药物治疗稳定后行肾切除治疗。3例均成功治愈出院。结论：结节性硬化症合并肾血管平滑肌脂肪瘤肿瘤巨大、症状严重、存在潜在破裂出血及可疑癌变者,可行根治切除或部分切除,破裂出血者宜首选选择性肾动脉栓塞术。     

Late onset epilepsy in undiagnosed tuberous sclerosis.

A 67 year old woman first developed left-sided sensorimotor seizures postoperatively in association with infection and mild hyponatraemia. She was found to have previously unrecognized tuberous sclerosis, with gross pathognomic features: periungual fibromata, facial angiofibromata, calcified subependymal nodules, cortical tubers and multiple renal angiomyolipomata. Her son who was epileptic was also found to have other mild features of tuberous sclerosis as a result. As far as we are aware our patient is the oldest for the first presentation of tuberous sclerosis.     

Cutaneous lesions and visceral involvement of tuberous sclerosis

Background Tuberous sclerosis (TS) is an autosomal dominant disorder with a significant range of clinical expressions. The involvement of vital organs, such as the brain, kidney, heart and lung is the main cause of death in patients with TS. The aim of this study is to summarize the charateristic cutaneous features and common extracutaneous involvement of TS, which are helpful to the early detection of visceral involvement.Methods The analyzed clinical data from 78 patients with TS included those from detailed history, physical and dermatological examination, cranial computed tomography (CT) and magnetic resonance imaging (MRI),abdominal uhrasonography, chest roentgenography, hand and foot X-ray and ophthalmologic examination.Results The skin, brain and kidney were involved frequently in TS patients. Hypomelanotic macules were the most common and earliest cutaneous lesions. Their number was more than 3 in 81.5% of the patients. They were followed by facial angiofibromas and Shangreen‘s patch in a decreasing frequency. Forehead plaque, facial angiofibromas and Shagreen‘s patch appeared in patients at mean age of 2.6, 6.0 and 8. 1 years respectively.Cranial CT showed a high positive rate in TS patients.Conclusions Cutaneous features of TS are helpful in the early diagnosis of the disease. Hypomelanotic macules are especially important for patients with epilepsy or babies whose number of hypomelanotic malues is more than 3. Cranial CT is of great value in the diagnosis of TS. The involvement of visceral organs such as the brain and kidney should be examined in TS Patients.     

儿童脑结节性硬化的CT诊断

目的探讨CT在儿童脑结节性硬化中诊断的价值。方法收集35例儿童脑结节性硬化的临床和影像学资料,总结其CT特征。结果CT表现：28例为室管膜下结节;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在CT上以室管膜下结节多见,CT表现和临床密切结合,可提高诊断准确率。     

结节性硬化症的颅脑及肾脏CT表现

目的：探讨结节性硬化症的颅脑及肾脏CT表现，以提高对本病的诊断水平。方法：收集经临床及CT诊断的结节性硬化症35例，分析其颅脑及肾脏CT表现.结果：本组35例患者均有颅脑异常CT表现，其中室管膜下结节35例、皮层或／及皮层下结节16例、室管膜下巨细胞星形细胞瘤2例、脑白质内小片状低密度区5例、梗阻性脑积水4例；22例有肾脏异常CT表现，其中血管肌脂瘤18例、多发囊肿4例、动脉瘤2例。结论：结节性硬化症的颅脑及肾脏CT表现具有特征性，CT可作为检查结节性硬化症的首选方法。     

小儿结节性硬化症的临床及颅脑CT表现

目的 评价颅脑CT在小儿结节性硬化症诊断中的价值。方法 回顾性分析经临床CT共同确诊的39例小儿结节性硬化症的颅脑CT表现。结果 39例小儿结节性硬化症CT平扫表现为颅内钙化或/和非钙化结节，发生于室管膜下39例（100%），皮质或皮质下15例（38.5%），脑白质12例（30.8%），脑实质内可见孤立的斑片状钙化11例(28.2%），双侧脑室轻度增大21例（53.8%）。结论 小儿结节性硬化症的颅内结节多发生于双侧脑室外侧壁室管膜下，CT平扫对颅内高密度或钙化结节具有高度的特异性，是诊断小儿结节性硬化的首选方法。