DOI: http://dx.doi.org/10.18203/2319-2003.ijbcp20171119

Case report on tuberous sclerosis

Zeebaish S., Hemalatha P., Anusha Y., Surendra Reddy N., Durga Prasad T. S.

Abstract


Tuberous sclerosis is a genetic multisystem disorder characterized by widespread hamartomas in several organs, including the brain, heart, skin, eyes, kidney, lung and liver.  The affected genes are TSC1 and TSC2, encoding hamartin and tuberin respectively.  Most features of tuberous sclerosis become evident only in childhood, limiting their usefulness for early diagnosis. We report a case of 3months old female child with seizures and hypo-pigmented skin lesions. The case is rare as it is documented in a family affected continuously in three generations involving four members.


Keywords


Genetic disorder, Hypo-pigmented skin lesions, Seizures, Tuberous sclerosis

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References


Shrestha S, Shrestha S, Ojha AR; Case report on Tuberous Sclerosis. Journal of Kathmandu Medical College, 2013;2(6);208-10.

Syed KB; Tuberous Sclerosis. J Pak Med Assoc. 2010;60(8):683-85.

Ishii M, Asano L, Kamiishi N, Hayashi Y, Daisuke Arai et al. Tuberous sclerosis diagnosed by incidental computed tomography findings of multifocal micronodularpneumocyte hyperplasia: a case report. Journal of Medical Case Reports. 2012;352(6):1-5.

Chandrakala, Patil S, Guruprasad KY. A Case Report of Tuberous Sclerosis in Two Generations. Journal of the association of physicians of India. 2014:62:60-64.

Behnes CL, Schutze G, Engelke C, Bremmer F, Gunaean B. 13-year-old tuberous sclerosis patient with renal cell carcinoma associated with multiple renal angiomyolipomas developing multifocal micronodularpneumocyte hyperplasia. BMC Clinical Pathology. 2013;13(4):1-5.

Curatolo P, Bombardieri R, Sergiuszjazwaiak. Tuberous sclerosis. 2008;372:657-68.

Hung CC, Su YN, Hwang Ys, Kim KJ.Mutational analysis of TSC1 and TSC2 in Korean patients with tuberous sclerosis complex. Brain Dev. 2006;7:72.

Rauktys A, Lee N, Lee L, Dabora SL. Topical rapamycin inhibits tuberous sclerosis tumor growth in a nude mouse model. BMC Dermatol. 2008;8:1.