Abstract Views :250 |
PDF Views:0
Authors
Affiliations
1 Obstetrics & Gynecology, Vijayanagara Institute of Medical Sciences (VIMS), Bellary 583104, Karnataka, IN
2 Dept of Obstetrics & Gynecology, Vijayanagara institute of Medical Sciences, Bellary, Karnataka, IN
Source
Indian Journal of Public Health Research & Development, Vol 4, No 2 (2013), Pagination: 269-271
Abstract
Tuberous sclerosis (TSC) is a rare genetic disease that causes benign tumors to grow in the brain and on other vital organs. It commonly affects the central nervous system (CNS). In addition to the benign tumors that frequently occur in TSC, other common symptoms include seizures, mental retardation, behavioral problems and skin abnormalities. TSC may present at birth, but signs can be subtle and full symptoms may take some time to develop. Definitive antenatal diagnosis is very rare.
Keywords
Tuberous Sclerosis Complex, Bourneville Disease, Epiloia
References
- O’Callaghan FJK, Shiell AW, Osborne JP, Martyn CN (1998). “Prevalence of tuberous sclerosis estimated by capture-recapture analysis”. Lancet 351 (9114): 1490.
- van Slegtenhorst M, de Hoogt R, Hermans C, et al. (1997). “Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34”. Science 277 (5327): 805–8.
- European Chromosome 16 Tuberous Sclerosis Consortium (1993). “Identification and characterization of the tuberous sclerosis gene on chromosome 16”. Cell 75 (7): 1305–15.
- Dabora SL, et al. (2001). “Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs”, American Journal of Human Genetics 68 (1): 64–80.
- Roach E, Sparagana S (2004).”Diagnosis of tuberous sclerosis complex” Journal of Child Neurology 19 (9): 643–9.
- “Tuberous Sclerosis Fact Sheet”. National Institute of Neurological Disorders and Stroke. 2006-04-11.
- Franz DN, Leonard J, Tudor C, Chuck G, Care M, Sethuraman G, Dinopoulos A, Thomas G, Crone KR: Rapamycin Causes Regression of Astrocytomas in Tuberous Sclerosis Complex, Annals of Neurology 2006; 59:490-498.
