scholarly journals Absence of subependymal nodules in patients with tubers suggests possible neuroectodermal mosaicism in tuberous sclerosis complex

2014 ◽  
Vol 56 (12) ◽  
pp. 1207-1211 ◽  
Author(s):  
Susana Boronat ◽  
Paul Caruso ◽  
Elizabeth A Thiele
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Subependymal Nodules

Subependymal nodules and giant cell tumours in tuberous sclerosis complex patients: prevalence on MRI in relation to gene mutation

2012 ◽  
Vol 29 (2) ◽  
pp. 249-254 ◽  
Author(s):  
Caterina Michelozzi ◽  
Giovanni Di Leo ◽  
Federica Galli ◽  
Fabiane Silva Barbosa ◽  
Francesca Labriola ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Giant Cell ◽  
Gene Mutation ◽  
Tuberous Sclerosis Complex ◽  
Complex Patients ◽  
Giant Cell Tumours ◽  
Subependymal Nodules

Standardized Whole Brain Mapping of Tubers and Subependymal Nodules in Tuberous Sclerosis Complex

2004 ◽  
Vol 19 (9) ◽  
pp. 658-665 ◽  
Author(s):  
Khanum Ridler ◽  
John Suckling ◽  
Nicholas Higgins ◽  
Patrick Bolton ◽  
Edward Bullmore
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Brain Mapping ◽  
Whole Brain ◽  
Subependymal Nodules

Tuberous sclerosis complex without tubers and subependymal nodules: a phenotype-genotype study

2013 ◽  
Vol 86 (2) ◽  
pp. 149-154 ◽  
Author(s):  
S. Boronat ◽  
E.A. Shaaya ◽  
C.M. Doherty ◽  
P. Caruso ◽  
E.A. Thiele
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Subependymal Nodules

The ability of high field strength 7-T magnetic resonance imaging to reveal previously uncharacterized brain lesions in patients with tuberous sclerosis complex

2013 ◽  
Vol 11 (3) ◽  
pp. 268-273 ◽  
Author(s):  
Jason R. Chalifoux ◽  
Nissa Perry ◽  
Joel S. Katz ◽  
Graham C. Wiggins ◽  
Jonathan Roth ◽  
...  
Keyword(s):  
Field Strength ◽  
Caudate Nucleus ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
High Field ◽  
High Field Strength ◽  
Conventional Mri ◽  
Institutional Review ◽  
Electrophysiological Recordings ◽  
Subependymal Nodules

Object Tuberous sclerosis complex (TSC) brain pathology is characterized on MRI by cortical tubers, subependymal nodules, and subependymal giant cell astrocytomas. Seizures, the prominent feature of TSC, are frequently intractable to medical therapy and, in many patients, resection of tubers results in seizure control. However, in approximately 40% of patients, resection of tubers does not control seizures. This fact, as well as evidence from invasive electrophysiological recordings and experimental animal models, suggests that in patients with TSC, there may be extratuberal epileptogenic brain that does not display any apparent abnormality on conventional MRI. The authors hypothesized that high field strength MRI might uncover lesions not seen on conventional MRI in these patients. Methods Institutional review board approval was obtained to scan 4 patients with TSC (ages 18–26 years) in a 7-T MR unit. Optimized 7-T sequences, including T1- and T2-weighted, FLAIR, SPACE FLAIR, T2*, and MPRAGE studies, were performed. Imaging studies were compared with identical sequences performed using a conventional 1.5-T MR scanner. Results In all 4 patients, there was improved visualization of the findings demonstrated on conventional imaging. Importantly, new lesions were detected in all 4 patients, which were not well visualized with conventional MRI. Newly detected lesions included microtubers, radial glial signal abnormalities, subependymal nodules arising from the caudate nucleus, and caudate nucleus lesions. Conclusions High field strength MRI detects previously uncharacterized lesions in patients with TSC and allows better detection and delineation of subtle abnormalities. In addition, the data demonstrate a compelling relationship between intraventricular lesions and the caudate nucleus. These data support previous electrophysiological and animal-model findings that demonstrate neurological pathology beyond the conventionally detected lesions in TSC.

Subependymal nodules, giant cell astrocytomas and the tuberous sclerosis complex: a population-based study

2008 ◽  
Vol 93 (9) ◽  
pp. 751-754 ◽  
Author(s):  
F J K O'Callaghan ◽  
C N Martyn ◽  
S Renowden ◽  
M Noakes ◽  
D Presdee ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Giant Cell ◽  
Tuberous Sclerosis Complex ◽  
Population Based ◽  
Population Based Study ◽  
Subependymal Nodules

scholarly journals A Young Girl with Tuberous Sclerosis Presenting with Recurrent Episodes of Convulsion & Right Sided Hemiparesis

2016 ◽  
Vol 17 (2) ◽  
pp. 125-129
Author(s):  
Partha Sarathi Sarker ◽  
Sarmin Akhter ◽  
Md Saidur Rahman ◽  
Md Monjurul Kader Chowdhury ◽  
Palash Kumar Biswas ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Skin Lesions ◽  
Young Girl ◽  
Neurocutaneous Syndrome ◽  
Cortical Tubers ◽  
Minor Criteria ◽  
Progressive Weakness ◽  
Subependymal Nodules

Tuberous Sclerosis Complex (TSC) is a neurocutaneous syndrome manifested by involvement of multiple system including CNS, kidney, skin, heart, lungs & eye. It is usually characterized by triad of skin lesions (96%), seizures (90%) & mental retardation (70%). Most common lesions associated with TSC are angiofibroma of face, ashleaf macules, shagreen patches, subependymal nodules, cortical tubers, mental retardation &angiomyolipoma of kidney. Here we report a case of a 14 years old girl who presented with recurrent episodes of convulsion, mental retardation & progressive weakness of right side of body. We investigated the patient to find out the etiology of her illness. After cranial imaging & other necessary investigations several major & minor criteria were established, which helped us to reach the final diagnosisJ MEDICINE July 2016; 17 (2) : 125-129

scholarly journals A single-center analysis of clinical features of 145 tuberous sclerosis complex—associated renal angiomyolipoma cases in China

2020 ◽  
Author(s):  
Xu Wang ◽  
Yang Zhao ◽  
Wenda Wang ◽  
Zhan Wang ◽  
Yushi Zhang
Keyword(s):  
Tuberous Sclerosis ◽  
Clinical Features ◽  
Tuberous Sclerosis Complex ◽  
Clinical Manifestations ◽  
Renal Angiomyolipoma ◽  
Age Group ◽  
Gender Distribution ◽  
Female Ratio ◽  
Number Of Patients ◽  
Subependymal Nodules

Abstract Background: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease with multiple organ system involvement. Renal angiomyolipoma (RAML) is a leading cause of death in TSC-adult patients. The aim of the study was to investigate the clinical features of tuberous sclerosis-associated renal angiomyolipoma among Chinese population so that clinicians can make better clinical diagnosis.Methods: Retrospective review of clinical data of 145 patients with tuberous sclerosis-associated renal angiomyolipoma treated in the Department of Urology, Peking Union Medical College Hospital from January 2014 to January 2019. Analysis of age and gender distribution, tumor stage, and combined clinical manifestations. All analyses used a significance level of 0.05 and were presented in SPSS23.0 software.Results: A total of 145 patients were enrolled. There were 51 males and 94 females. The male to female ratio was 1:1.84, with mean age of 30.50±9.79 years (range 7-58 years). 92 cases were mainly distributed in 21-40 age group, accounting for 63.45%. Among all 6 age groups, 21-30 age group contained the largest number of patients(48 case，33.10%). 86 (59.31%) renal angiomyolipoma cases were classified stage 6; 19 cases had a history of tumor rupture and hemorrhage, including 7 selective arterial embolization, 8 partial nephrectomy and 4 nephrectomy. Subependymal nodules (104/122cases, 85.24%), angiofibromas /fibrous cephalic plaque (121 cases, 83.44%), hypomelanotic macules (89 cases, 61.39%), shagreen patch (65 cases, 44.83%) and ungual fibromas (62 cases, 42.07%) were the main combined clinical manifestation. 91.30% (42/46) lymphangioleiomyomatosis cases were female.Conclusion: Patients with TSC-RAML were mainly young and middle-aged females with giant Angiomyolipoma. Most tumor were ranged in stage 5 and 6. Nervous system characteristics (subependymal nodules), dermatological lesions (angiofibromas or fibrous cephalic plaque, hypomelanotic macules, shagreen patch and ungual fibromas) were common combined clinical manifestations. Lymphangioleiomyomatosis showed an obvious difference in gender distribution

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