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Case Report

Tuberous Sclerosis Spectrum

Nishad Patil , Nishad Patil , Sunil Mhaske , Ramesh Kothari

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International Journal of Neurology and Neurosurgery 6(2):p 65-68, July - December 2014. | DOI:

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Abstract

Tuberous sclerosis complex (TSC) is a relatively rare autosomal dominant disorder characterized by widespread benign tumor formation in a variety of organs. Mutations in either TSC1 or TSC2 tumor suppressor gene are responsible for TSC. The gene products of TSC1 and TSC2, also known as hamartin and tuberin, respectively, form a physical and functional complex and inhibit the mammalian target of rapamycin complex 1 (mTORC1) signaling. The mTORC1 pathway is an evolutionarily conserved growth promoting pathway. mTORC1 plays an essential role in a wide array of cellular processes including translation, transcription, trafficking and autophagy. In this review, we will discuss recent progresses in the TSC-mTOR field and their physiological functions and alterations of this pathway in pathophysiology. Our case is 9 years male child presented to us with skin lesion prominent on face.

Keywords: Tuberous sclerosis; Shagreen patch; Adenoma sebaceum.

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