Tuberous sclerosis complex is an autosomal dominant disorder characterized by skin manifestations and formation of multiple benign tumors in different organs such as brain, kidneys, heart, liver, eyes and lungs. Two 15 years old females who had epilepsy for a long time were diagnosed TSC by autopsy performed in Forensic Medicine Institute. In this study, we aim that emphasize the importance of ‘medical autopsy’ to diagnose TSC and discuss this rare disorder which have only epilepsy in patient’s medical history in forensic medicine practice via current literature.
Curatolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. Lancet 2008; 372: 657-68.
Erol İ, Savaş T, Şekerci S, Yazıcı N, Erbay A, Demir Ş, Saygı S, Alkan Ö. Tuberous sclerosis complex; single center experience. Turk Pediatri Ars. 2015 Mar 1;50(1):51-60.
Hallett L, Foster T, Liu Z, et al. Burden of disease and unmet needs in tuberous sclerosis complex with neurological manifestations: systematic review. Curr Med Res Opin 2011; 27: 1571-83.
Mizuguchi M, Takashima S. Neuropathology of tuberous sclerosis. Brain Dev. 2001 Nov;23(7):508-15.
Inci R, Aksoy A, Inci M.F, Ozyurt K, Oztürk P. Multipl akrokordonlarla tanı alan tuberoskleroz olgusu. J Clin Exp Invest 2013; 4 (1): 130-133
Schwartz RA, Fernández G, Kotulska K, Jóźwiak S. Tuberous sclerosis complex: advances in diagnosis, genetics, and management. J Am Acad Dermatol 2007; 57: 189-202.
Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol 1998; 13: 624-628.
Northrup H, Krueger DA, International Tuberous Sclerosis Complex Consensus Group. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 international tuberous sclerosis complex consensus conference. Pediatr Neurol 2013; 49: 243-65.
Roach ES, Sparagana SP. Diagnosis of tuberous sclerosis complex. J Child Neurol. 2004; 19: 643–649.
Webb D, Clarke A, Fryer A, Osborne J. The cutaneous features of tuberous sclerosis: a population study. Br J Dermatol. 1996; 135:1–5.
Alper J, Holmes L. The incidence and significance of birthmarks in a cohort of 4,641 newborns. Pediatr Dermatol. 1983; 1:58–68.
Vanderhooft S, Francis J, Pagon R, Smith L, Sybert V. Prevalence of hypopigmented macules in ahealthy population. J Pediatr. 1996; 129:355–361.
Jozwiak S, Schwartz RA, Janniger CK, Michalowicz R, Chmielik J. Skin lesions in children with tuberous sclerosis complex: their prevalence, natural course, and diagnostic significance. Int J Dermatol. 1998; 37: 911–917.
Yılmaz R., Akat S., Demirçin S., Kumral B., Gürpınar S. Gözükırmızı E., Yıldırım A., Özer E. Difficulty In Diagnosis; Epileptic Death, J. Contemporary Medicine, vol.4, pp.59-63, 2014
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