结节性硬化症

小儿结节性硬化症的临床及颅脑CT表现

Clinical and CT manifestations of tuberous sclerosis in children

结节性硬化症眼部病变CT及MRI表现

Ophthalmic manifestations of tuberous sclerosis : CT and MRI findings

结节性硬化症的CT和MRI影像学表现（20例报告）

CT and MRI imaging of tuberous sclerosis complex ( report of 20 cases )

结节性硬化症的CT、MRI诊断

CT and MRI Diagnosis of Tuberous Sclerosis

目的：分析结节性硬化症脑部CT和MRI表现，以提高对本病的认识。

Objective : To study the CT and MRI findings of cerebral tuberous sclerosis complex .

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。

Methods : CT presentations of brain and kidney were analyzed in 35 cases of tuberous sclerosis .

结论：CT及MRI检查对结节性硬化症的诊断具有重要价值，结合临床特点及脑内特征改变对其特殊表现可做出定性诊断。

Con clu-sion : CT and MRI examinations have important value in the diagnosis of TSC , the characteristic imaging appearances with clinical features usually can make a specific TSC diagnosis .

结论MRI和CT检查能全面反映结节性硬化症的颅内病理改变，对于其临床诊断和中枢系统损害程度的评价有意义。

Conclusion MRI and CT can give a complete reflection of the cerebral pathologic changes in tuberous sclerosis and is a useful tool in the clinical diagnosis and evaluation of their nervous system impairment .

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。

Objective : To investigate the electroencephalograpm ( EEG ) changes , CT characteristics and the relationship with the clinical signs in patients with tuberous sclerosis ( TS ) .

目的探讨中国人结节性硬化症（TuberousSclerosisComplex，TSC）基因（TSC1）外显子4的基因突变特征及多态现象。

Objective To study the characteristic of mutation and polymorphism in exon 4 of tuberous sclerosis complex gene ( TSC1 ) in Chinese .

目的：了解结节性硬化症（TuberousSclerosis，TS）的特征性皮肤表现及常见的皮肤外病变，使该疾病及内脏病变得到早期诊断、早期发现。

Objective : To study the clinical features of tuberous sclerosis ( TS ) and help the clinicians diagnose correctly and detect important visceral involvement early .

与结节性硬化症无关且HMB45阴性的皮肤血管肌脂瘤应考虑为脂肪性血管平滑肌瘤

Cutaneous angiomyolipomas are HMB45 negative , not associated with tuberous sclerosis , and should be considered as angioleiomyomas with fat

结节性硬化症肺部受累14例临床分析

Clinical Analysis of 14 Tuberous Sclerosis Complex Cases with Pulmonary Involvement

本文报告10例结节性硬化症，男4例，女6例，平均年龄32岁。

Male and 6 female cases of tuberous sclerosis were reported .

杜氏肌营养不良症和结节性硬化症的基因突变分析

Gene Mutation Analysis of Duchenne Muscular Dystrophy and Tuberous Sclerosis Complex

结节性硬化症98例临床表现对诊断的意义

Diagnostic Significance of Clinical Manifestations in 98 Patients with Tuberous Sclerosis

超声诊断胎儿心脏横纹肌瘤及其与结节性硬化症的关系

Fetal Cardiac Rhabdomyoma Diagnosed by Ultrasonography and Its Relation with Tuberous Sclerosis

结节性硬化症经股动脉导管法选择性脑血管造影术（附28例报告）应用超声评价颈动脉硬化与冠心病的关系

The Relationship Between Carotid Sclerosis and Coronary Artery Disease Evaluated by Ultrasound

结节性硬化症多器官损害7例报告

Multiple organ involvement of tuberous sclerosis complex in 7 cases

结节性硬化症16例临床特征和诊断

The clinical characteristics and diagnosis of tuberous sclerosis complex in 16 cases

结论胎儿心脏横纹肌瘤与结节性硬化症相关联。

Conclusions Fetal cardiac rhabdomyoma associated with tuberous sclerosis .

肾细胞癌与血管肌肉脂肪瘤同时并存于结节性硬化症病人身上的情况非常少见。

Renal cell carcinoma coexisting with angiomyolipoma in tuberous sclerosis is extremely rare .

伴多脏器损害的结节性硬化症临床表现与影像学诊断价值

Clinical Manifestations and Imaging Diagnostic Value of Tuberous Sclerosis Accompanied by Multiple Organs Injury

结节性硬化症并双肾肿瘤1例

Tuberous Sclerosis with Kidney Tumor One Case Report

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

Diagnosis and treatment of tuberous sclerosis accompanying renal angiomyolipoma : report of 3 cases

结节性硬化症的癫痫发作

Epileptic Attack of Tuberous Sclerosis

结节性硬化症，变硬变白的脑回比周围正常的脑回宽是其典型表现。

This area of firm , whitened gyri that are broader than surrounding normal gyri is typical for tuberous sclerosis .

目的检测两例中国汉族结节性硬化症散发病例的基因突变位点。

Objective To analyze the mutation of TSC gene in two sporadic patients with tuberous sclerosis complex ( TSC ) .

其中一例长于肾脏的病人合并结节性硬化症，之后发展成肝脏及腹腔转移，最后死于疾病。

One case with maliganant epithelioid angiomyolipoma of kidney associated with tuberous sclerosis developed metastases to liver and retroperitoneum and finally died of the disease .

目的探讨超声诊断胎儿心脏横纹肌瘤的可行性及胎儿心脏横纹肌瘤与家族性结节性硬化症的关系。

Objective To study the possibility of fetal cardiac rhabdomyoma diagnosed by ultrasonography , and the relationship between the fetal cardiac rhabdomyoma and family tuberous sclerosis .