DECEMBER 2015 ARTICLE LIST >>
PharmaTutor (December- 2015)
Print-ISSN: 2394 - 6679
e-ISSN: 2347 - 7881
(Volume 3, Issue 12)
Received On: 27/07/2015; Accepted On: 11/08/2015; Published On: 01/12/2015
AUTHORS: N. Surendra Reddy, S. Chandrakala, B. Nagendra Prasad, G. Divya, T. S. Durga Prasad, Diviti Ranganayakulu
Department of pharmacy practice,
Sri Padmavathi School of Pharmacy,
Tiruchanoor, Tirupati, india
*suriph7@gmail.com
ABSTRACT: Tuberous sclerosis is a neurocutaneous syndrome with an autosomal dominant inheritance. Tuberous sclerosis has an approximate incidence of one in ten thousand to fifty thousand. Tuberous sclerosis complex Syndrome (TSCs) is a dominantly inherited disorder affecting multiple organs; caused by mutations of either the TSC1 or TSC2 gene encoding hamartin and tuber in respectively. It is characterized by the development of benign tumors affecting different body systems. The most common oral manifestations of TSC are fibromas (angiofibromas), gingival hyperplasia and enamel hypoplasia and the formation of hamartomas in multiple organ systems leading to morbidity and mortality. It is important to make an early diagnosis of TSC so that lifelong monitoring, early recognition of complications and proactive treatment can lower the morbidity and mortality rates. We report a case of 35 year old female in south India with the features of Tuberous sclerosis complex like seizures, weakness of the body, papules over the cheek, calcification noted in subependymal region in the brain and angiomyolipoma in both kidneys.
How to cite this article: NS Reddy, S Chandrakala, BN Prasad, G Divya, TSD Prasad, D Ranganayakulu; A rare case report on Tuberous Sclerosis; PharmaTutor; 2015; 3(12); 29-31
[ABSTRACT WITH CITATION] [VIEW AS HTML]
REFERENCES:
1. Shobha Bijjargi., Ashwini Rani SR., Veerendra S Patil., Sunil Bapure; Tuberous Sclerosis Complex Syndrome A Rare Case Report; Journal of Medical Education & Research; 2013; 3(1); 57-63.
2. Braffman B H., Bilaniuk C T., Zimmerman R A; MR of central nervous system neoplasia of the phakomatoses, Sem Roentgenol; 1990;25;198-217.
3. Kaukab., Naeem Syed; Tuberous Sclerosis; 2010; 60(8); 683-685.
4. TS Cheng., Tuberous sclerosis complex; an update Review Article Hong Kong J. Dermatol; Venereol; 2012; 20; 61-67.
5. Korol UB., Schoor R., Nanda V., Almas K., Phelan JA; Gingival enlargement as a manifestation of tuberous sclerosis: case report and periodontal management; J Periodontol; 2008; 79; 759-63.
6. Fahsold R., Rott HD., Lorenz P; A third gene locus for tuberous sclerosis is closely linked to the phenylalanine hydroxylase gene locus; Hum Genet;1991; 88; 85-90.
7. Seibert D., Hong CH., Takeuchi F., Olsen C., Hathaway O., Moss J; Recognition of tuberous sclerosis in adult women: delayed presentation with life-threatening consequences; Ann Intern Med; 2011; 154; 806-13.
8. Hung CC., SuYN., Chien SC., LiouHH., ChenCC., ChenPC; Molecular and clinical analyses of 84 patients with tuberous sclerosis complex; BMC Med Genet; 2006; 7:72.
9. Inoki K., Guan KL., Tuberous sclerosis complex; implication from a rare genetic disease to common cancer treatment; Hum Mol Genet; 2009;18 ; R 94-100.
10. Wienecke R., Klemm E., Karparti S., Swanson NA., Green AJ., DeClue JE; Reduction of expression of tuberin, the tuberous-sclerosis-complex-gene-2 product in tuberous sclerosis complex associated connective tissue nevi and sporadic squamous and basal cell carcinomas; J Cutan Pathol; 2002; 29; 287-90.
11. O'Callaghan FJ., Shiell AW., Osborne JP., Martyn CN., Prevalence of tuberous sclerosis estimated by capture-recapture analysis; Lancet; 1998; 351; 1490.
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