Tuberous sclerosis
Abstract
We read with interest the recent publication in Cumhuriyet Medical Journal from H.K Aggarwal et al. [1] about a case report of a young patient with Tuberous Sclerosis (TS).
As explained in the article, TS is diagnosed by pooling different clinical and radiological signs; but those are not all present in the same period of life, some of them being prenatal or precocious, while other are more latent and are expected in late childhood or even in adulthood [2].
The authors also mentioned that TSC genes are tumor suppressor genes without refering to the mammalian Target of Rapamycin (mTOR) complex they inhibit [3].
In fact, this complex is the cornerstone of major (if not all) TS expressions; and that is why mTOR inhibitors like Everolimus and Sirolimus are more and more used/tested to treat a wide spectrum of TS clinical signs [4, 5].
These inhibitors also seem to be effective in both seizures and behavior disorders in affected patients [6, 7].
The Intellectual Quotient (IQ) of TS population is considered to be linked, as mentioned by authors, to the phenotype (mainly neurological with comitiality & tubers number) as well as to the TSC2 genotype [8]
This may open a window of opportunity to a genotype/phenotype tailored treatment of this phakomatosis.
Keywords
References
- 1. Aggarwal EH, Jain D, Jain P, Kaverappa V, Kumar A, Yadav S. Tuberoussclerosis - A case report and review of literature. Cumhuriyet Med J 2012; 34: 79-85.
- 2. Yates JR, Maclean C, Higgins JN, Humphrey A, le Maréchal K, Clifford M,Carcani-Rathwell I, Sampson JR, Bolton PF; Tuberous Sclerosis 2000 StudyGroup. The Tuberous Sclerosis 2000 Study: presentation, initial assessments andimplications for diagnosis and management. Arch Dis Child 2011; 96: 1020-5.
- 3. Dobashi Y, Watanabe Y, Miwa C, Suzuki S, Koyama S. Mammalian target of rapamycin: a central node of complex signaling cascades. Int J Clin Exp Pathol 2011; 4: 476-95.
- 4. Davies DM. Tuberous sclerosis: from gene to targeted therapy. Clinical Medicine 2012; 12: s7-s10.
- 5. Kohrman MH. Emerging treatments in the management of tuberous sclerosiscomplex. Pediatr Neurol 2012; 46: 267-75.
Details
Primary Language
English
Subjects
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Journal Section
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Publication Date
January 12, 2013
Submission Date
January 12, 2013
Acceptance Date
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Published in Issue
Year 2013 Volume: 35 Number: 1