Tuberous sclerosis complex: a case report
Abstract
Tuberous Sclerosis Complex is an autosomal dominant phakomatosis. This neurocutaneous disorder usually presents with seizures, facial angiofibroma and mental retardation (Vogt’s triad). Here we report a case where a 25 year old gentleman presented with recurrent seizures, and was diagnosed to have tuberous sclerosis complex.
Keywords
Full Text:
PDFReferences
Bourneville DM. Sclerose tubereuse des circonvolutions cerebrales. Arch Neurol. 1880;1:81-91.
Curatolo P, Bombardieri R, Jozwiak S. TSC. Lancet. 2008;372:657.
Osborne JP, Fryer A, Webb D. Epidemiology of TSC. Ann N Y Acad Sci. 1991;615:125.
Hallett L, Foster T, Liu Z, et al. Burden of disease and unmet needs in TSC complex with neurological manifestations: systematic review. Curr Med Res Opin. 2011;27:1571.
O'Callaghan FJ. TSC. BMJ. 1999;318:1019.
Tee AR, Fingar DC, Manning BD, et al. TSC complex-1 and -2 gene products function together to inhibit mammalian target of rapamycin (mTOR)-mediated downstream signaling. Proc Natl Acad Sci USA. 2002;99:13571.
Schwartz RA, Fernández G, Kotulska K, Jóźwiak S. TSC complex: advances in diagnosis, genetics, and management. J Am Acad Dermatol. 2007;57:189.
Roach ES, Gomez MR, Northrup H. TSC complex consensus conference: revised clinical diagnostic criteria. J Child Neurol. 1998;13:624.
Roach ES, Sparagana SP. Diagnosis of TSC complex. J Child Neurol. 2004;19:643.
Curatolo P, Verdecchia M, Bombardieri R. TSC complex: a review of neurological aspects. Eur J Paediatr Neurol. 2002;6:15-23.
Thiele EA. Managing epilepsy in TSC complex. J Child Neurol. 2004;19:680-6.
Zamponi N, Petrelli C, Passamonti C, et al. Vagus nerve stimulation for refractory epilepsy in TSC. Pediatr Neurol. 2010;43:29.
Franz DN, Leonard J, Tudor C, et al. Rapamycin causes regression of astrocytomas in TSC complex. Ann Neurol. 2006;59:490.
Kohrman MH. Emerging treatments in the management of TSC complex. Pediatr Neurol. 2012;46:267.