Tuberous Sclerosis Complex: Diagnostic Challenges, Presenting Symptoms, and Commonly Missed Signs

2010 ◽  
Vol 127 (2) ◽  
pp. peds.2010-0192d-peds.2010-0192d
2010 ◽  
Vol 127 (1) ◽  
pp. e117-e125 ◽  
B. A. Staley ◽  
E. A. Vail ◽  
E. A. Thiele

Shruthi Sudarshan ◽  
Atin Kumar ◽  
Arun Gupta ◽  
Neetu Bhari ◽  
Gomathy Sethuraman ◽  

AbstractTuberous sclerosis complex (TSC) is a multiorgan disorder characterized by formation of hamartomas and broad phenotypic spectrum including seizures, mental retardation, renal dysfunction, skin manifestations and brain tubers. It is inherited in an autosomal dominant pattern, caused due to mutation in either TSC1 or TSC2 genes. Seizures are one of the major presenting symptoms of TSC that helps in early diagnosis. The present study describes the mutation spectrum in TSC1 and TSC2 genes in TSC patients and their association with neurocognitive-behavioral phenotypes. Ninety-eight TSC patients were enrolled for TSC genetic testing after detailed clinical and neurobehavioral assessment. Large genomic rearrangement testing was performed by multiplex ligation-dependent probe amplification (MLPA) technique for all cases and Sanger sequencing was performed for MLPA negative cases. Large rearrangements were identified in approximately 1% in TSC1 and 14.3% in TSC2 genes. The present study observed the presence of duplications in two (2%) cases, both involving TSC2/PKD1 contiguous genes which to the best of our knowledge is reported for the first time. 8.1% of small variants were identified in the TSC1 gene and 85.7% in TSC2 gene, out of which 23 were novel variations and no variants were found in six (6.1%) cases. This study provides a representative picture of the distribution of variants in the TSC1 and TSC2 genes in Indian population along with the detailed assessment of neurological symptoms. This is the largest cohort study from India providing an overview of comprehensive clinical and molecular spectrum.

2017 ◽  
Vol 48 (S 01) ◽  
pp. S1-S45
G. Wiegand ◽  
T. Polster ◽  
C. Hertzberg ◽  
A. Wiemer-Kruel ◽  
J. French ◽  

2017 ◽  
Vol 48 (S 01) ◽  
pp. S1-S45
T. Stapper ◽  
D. Valcheva ◽  
T. Höll ◽  
T. Rosenbaum

2006 ◽  
Vol 37 (03) ◽  
C Krahn-Peper ◽  
IEB Tuxhorn ◽  
K Ahlbory ◽  
F Behne ◽  
H Pannek

2020 ◽  
Vol 7 (3) ◽  
pp. 5-19
Nikhil Nair ◽  
Ronith Chakraborty ◽  
Zubin Mahajan ◽  
Aditya Sharma ◽  
Sidarth Sethi ◽  

Tuberous sclerosis complex (TSC) is a genetic condition caused by a mutation in either the TSC1 or TSC2 gene. Disruption of either of these genes leads to impaired production of hamartin or tuberin proteins, leading to the manifestation of skin lesions, tumors and seizures. TSC can manifests in multiple organ systems with the cutaneous and renal systems being the most commonly affected. These manifestations can secondarily lead to the development of hypertension, chronic kidney disease, and neurocognitive declines. The renal pathologies most commonly seen in TSC are angiomyolipoma, renal cysts and less commonly, oncocytomas. In this review, we highlight the current understanding on the renal manifestations of TSC along with current diagnosis and treatment guidelines.

2007 ◽  
Vol 56 (2) ◽  
NC Iheonunekwu ◽  
TM Ibrahim ◽  
BD Crosdale ◽  
RH Gangappa

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