Results 31 to 40 of about 46,855 (284)

Tuberous sclerosis complex [PDF]

Anais Brasileiros de Dermatologia, 2012
Tuberous Sclerosis Complex, also known as Epiloia or Bourneville-Pringle disease is an autosomal dominant neurocutaneous syndrome with variable clinical expression. It is a multisystem disorder that may be associated with hamartomas in multiple organs in an unpredictable manner.
Rodrigues, Daniela Araujo, Gomes, Ciro Martins, Costa, Izelda Maria Carvalho   +2 more
openaire   +4 more sources

Tuberous Sclerosis Complex in a 17-month-old: A Case Report

Journal of Nepal Medical Association, 2023
Tuberous sclerosis complex is a rare autosomal dominant genetic disorder that affects multiple organ systems, primarily affecting the central nervous system. It develops with a pathogenic mutation in tumour suppressor genes i.e.
Sarjan K.C., Anjana Bohaju, Sunil Raja Manandhar, Anup Shrestha, Erika Aryal, Pradeep Maharjan   +5 more
doaj   +1 more source

Optimal management of seizures associated with tuberous sclerosis complex: current and emerging options. [PDF]

, 2014
Seizures are clinically significant manifestations associated with 79%-90% of patients with tuberous sclerosis complex. Often occurring within the first year of life in the form of infantile spasms, seizures interfere with neuropsychiatric, social, and ...
Fallah, Aria, Wang, Shelly
core   +2 more sources

Tuberous Sclerosis Complex With Multiple Organ Tumors: Case Report and Literature Review

Frontiers in Oncology, 2022
Pancreatic neuroendocrine neoplasms (PNEN) are tumors that originate from neuroendocrine cells. Only about 1% patients are related to mutation of tuberous sclerosis complex gene. Here, we reported a rare case with involvement of multiple organs and space-
Xinhe Zhang, Xinping Zhong, Xuyong Lin, Xuedan Li, Haoyu Tian, Bing Chang, Ying Wang, Jing Tong, Ningning Wang, Dan Li, Xiuli Jin, Die Huang, Yanmeng Wang, Huipeng Cui, Lin Guan, Yiling Li   +15 more
doaj   +1 more source

A rare case of tuberous sclerosis complex-associated renal cell carcinoma

South African Journal of Radiology, 2022
Renal cell carcinoma is rarely described in paediatric patients with tuberous sclerosis complex. This report describes a case of an 11-year-old male with tuberous sclerosis-associated renal cell carcinoma.
Humphrey Mapuranga, Bianca Douglas-Jones, Danelo du Plessis, Camilla E. le Roux, Christel du Buisson, Shahida Moosa   +5 more
doaj   +1 more source

Initial presentation with dilated cardiomyopathy in a patient of tuberous sclerosis: A rare case report

Indian Heart Journal, 2013
A 35-year-old man presented with dilated cardiomyopathy, an unusual association with tuberous sclerosis. Clinical history and examination were consistent with tuberous sclerosis including major features of tuberous sclerosis complex (TSC) like facial ...
Dharmendra Jain, Vikas Kumar, Deba P. Kar, Shashi R. Prasad   +3 more
doaj   +1 more source

Parental Understanding of Tuberous Sclerosis Complex [PDF]

, 2014
Tuberous sclerosis complex is a genetic disorder with multisystem involvement that poses significant challenges to the affected child and family. Caregiver knowledge in the South African population has not previously been reported. A prospective study of
Donald, Kirsten A., Samia, Pauline, Schlegel, Birgit, Wilmshurst, Jo M.   +3 more
core   +2 more sources

Everolimus dosing recommendations for tuberous sclerosis complex–associated refractory seizures [PDF]

, 2018
ObjectiveThe present analysis examined the exposure-response relationship by means of the predose everolimus concentration (C-min) and the seizure response in patients with tuberous sclerosis complex-associated seizures in the EXIST-3 study ...
Brandt, Christian, Cheung, Wing, Coello, Neva, Franz, David N, French, Jacqueline A, Grosch, Kai, Kohrman, Michael H, Lawson, John A, Milh, Mathieu, Voi, Maurizio, Wiemer-Kruel, Adelheid, Wong, Michael, Yapici, Zuhal   +12 more
core   +2 more sources

The tuberous sclerosis complex [PDF]

Annals of the New York Academy of Sciences, 2010
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that results from mutations in the TSC1 or TSC2 genes and is associated with hamartoma formation in multiple organ systems. The neurological manifestations of TSC are particularly challenging and include infantile spasms, intractable epilepsy, cognitive disabilities, and autism ...
Ksenia A, Orlova, Peter B, Crino
openaire   +2 more sources

The TOSCA Registry for Tuberous Sclerosis-Lessons Learnt for Future Registry Development in Rare and Complex Diseases. [PDF]

, 2019
Introduction: The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to provide insights into the clinical characteristics of patients with Tuberous Sclerosis Complex (TSC).
Beaure d'Augères, Guillaume, Belousova, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, D'Amato, Lisa, Dahlin, Maria, de Vries, Petrus J., Ferreira, José C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jansen, Anna C., Jozwiak, Sergiusz, Kingswood, John C., Lawson, John A., Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, TOSCA Consortium and TOSCA Investigators, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard   +29 more
core   +2 more sources