scholarly journals The natural history of epilepsy in tuberous sclerosis complex

Epilepsia ◽  
2009 ◽  
Vol 51 (7) ◽  
pp. 1236-1241 ◽  
Author(s):  
Catherine J. Chu-Shore ◽  
Philippe Major ◽  
Susana Camposano ◽  
David Muzykewicz ◽  
Elizabeth A. Thiele
Keyword(s):  
Natural History ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
History Of ◽  
History Of Epilepsy

Natural history of incidental sporadic or tuberous sclerosis complex associated lymphangioleiomyomatosis

2019 ◽  
Author(s):  
Fabiano Di Marco ◽  
Silvia Terraneo ◽  
Olívia Olívia Meira Dias ◽  
Gianluca Imeri ◽  
Stefano Centanni ◽  
...  
Keyword(s):  
Natural History ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
History Of

The natural history of subependymal giant cell astrocytomas in tuberous sclerosis complex: a review

2018 ◽  
Vol 29 (3) ◽  
pp. 295-301 ◽  
Author(s):  
Denise L. Chan ◽  
Tessa Calder ◽  
John A. Lawson ◽  
David Mowat ◽  
Sean E. Kennedy
Keyword(s):  
Natural History ◽  
Tuberous Sclerosis ◽  
Giant Cell ◽  
Tuberous Sclerosis Complex ◽  
Obstructive Hydrocephalus ◽  
Growth Patterns ◽  
Imaging Characteristics ◽  
Life Threatening ◽  
History Of ◽  
Mtor Activity

AbstractTuberous sclerosis complex (TSC) is an auto-somal-dominant inherited condition with an incidence of approximately 1:6000 births, characterised by deregulated mTOR activity with multi-site hamartomas. Subependymal giant cell astrocytomas (SEGA) are one such hamartoma, affecting up to 24% of patients with TSC. Their intraventricular location may lead to life-threatening obstructive hydrocephalus. Current management is hampered by a lack of understanding regarding the natural history, behaviour and growth patterns of SEGA. We review the current literature to summarise what is known about SEGA in the following areas: (1) diagnostic criteria, (2) prevalence, (3) origin, (4) imaging characteristics, (5) growth rate, (6) genotype-phenotype correlation, (7) congenital SEGA and (8) SEGA as a marker of severity of other TSC manifestations.

Natural history of incidental sporadic and tuberous sclerosis complex associated lymphangioleiomyomatosis

2020 ◽  
Vol 168 ◽  
pp. 105993
Author(s):  
Fabiano Di Marco ◽  
Silvia Terraneo ◽  
Olívia Meira Dias ◽  
Gianluca Imeri ◽  
Stefano Centanni ◽  
...  
Keyword(s):  
Natural History ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
History Of

Natural history of patients with tuberous sclerosis complex related renal angiomyolipoma

2017 ◽  
Vol 33 (7) ◽  
pp. 1277-1282 ◽  
Author(s):  
Xue Song ◽  
Zhimei Liu ◽  
Katherine Cappell ◽  
Christopher Gregory ◽  
Qayyim Said ◽  
...  
Keyword(s):  
Natural History ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Renal Angiomyolipoma ◽  
History Of

scholarly journals Natural History Of Patients With Tuberous Sclerosis Complex Related Renal Angiomyolipoma

2014 ◽  
Vol 17 (3) ◽  
pp. A56 ◽  
Author(s):  
K.A. Cappell ◽  
X. Song ◽  
Z. Liu ◽  
E. Eynullayeva ◽  
C. Gregory ◽  
...  
Keyword(s):  
Natural History ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Renal Angiomyolipoma ◽  
History Of

Prevalence and natural history of sporadic non-tuberous sclerosis associated renal angiomyolipoma

2013 ◽  
Vol 34 (S 01) ◽  
Author(s):  
A Fittschen ◽  
A Akinli ◽  
W Kratzer ◽  
S Oeztuerk ◽  
MM Haenle ◽  
...  
Keyword(s):  
Natural History ◽  
Tuberous Sclerosis ◽  
Renal Angiomyolipoma ◽  
History Of

Epilepsy and Neurodevelopmental Comorbidities in Tuberous Sclerosis Complex: A Natural History Study

2020 ◽  
Vol 106 ◽  
pp. 10-16 ◽  
Author(s):  
Ajay Gupta ◽  
Gwendolyn de Bruyn ◽  
Simon Tousseyn ◽  
Balu Krishnan ◽  
Lieven Lagae ◽  
...  
Keyword(s):  
Natural History ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Natural History Study

scholarly journals Tuberous Sclerosis Complex with rare associated findings in the gastrointestinal system: a case report and review of the literature

2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Larissa Brussa Reis ◽  
Daniele Konzen ◽  
Cristina Brinckmann Oliveira Netto ◽  
Pedro Moacir Braghirolli Braghini ◽  
Gabriel Prolla ◽  
...  
Keyword(s):  
Neuroendocrine Tumor ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Pancreatic Neuroendocrine Tumor ◽  
Low Grade ◽  
Gastrointestinal Polyposis ◽  
Colorectal Polyposis ◽  
Predisposing Genes ◽  
History Of ◽  
Gastro Intestinal Tract

Abstract Background Tuberous Sclerosis Complex (TSC) is a complex and heterogeneous genetic disease that has well-established clinical diagnostic criteria. These criteria do not include gastrointestinal tumors. Case presentation We report a 45-year-old patient with a clinical and molecular diagnosis of TSC and a family history of cancer, presenting two rare associated findings: gastrointestinal polyposis and pancreatic neuroendocrine tumor. This patient was subjected to a genetic test with 80 cancer predisposing genes. The genetic panel revealed the presence of a large pathogenic deletion in the TSC2 gene, covering exons 2 to 16 and including the initiation codon. No changes were identified in the colorectal cancer and colorectal polyposis genes. Discussion and conclusions We describe a case of TSC that presented tumors of the gastro intestinal tract that are commonly unrelated to the disease. The patient described here emphasizes the importance of considering polyposis of the gastrointestinal tract and low grade neuroendocrine tumor as part of the TSC syndromic phenotype.

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