Tuberous sclerosis confirmed on neuroimaging: A case report and literature review
1Department of Radiology, Union Diagnostics and Clinical Services, No 37 Tejuosho Street, Yaba, Lagos State, Nigeria.
*Correspondence: Dr. Bukunmi Michael Idowu, firstname.lastname@example.org
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Background: Tuberous sclerosis (also known as Bourneville disease or Epiloia) is a neurocutaneous genetic syndrome secondary to autosomal dominant germline mutations (20 – 50% of cases) or spontaneous/sporadic gene mutations (50 – 80% of cases). The classical diagnostic triad, which is seen in only twenty-nine percent of patients, comprises of epilepsy, adenoma sebaceum, and mental retardation. Although the disease could be suspected clinically, cross-sectional neuroimaging with brain Computerized Tomography (CT) and/or brain Magnetic Resonance Imaging (MRI) is necessary for complete evaluation.
Case presentation: This is a case report of a 24 -year-old Nigerian male with tuberous sclerosis who presented with epilepsy, cutaneous lesions, and poor academic performance. The relatively unique feature of this case is the asymptomaticity of the disease from the age of 6 years until the age of 24 years (An 18-year interval).
Conclusion: TSC is diagnosed based on clinical and radiologic findings. Adequate control of seizures and prevention of organ failure are the cornerstone of management. Vigabatrin and rapamycin inhibitors are the current first-line pharmacologic agents for seizure control, while mTOR inhibitors like everolimus and sirolimus are the drug of choice for treating neurocognitive abnormalities.
Keywords: Epilepsy, Mental Retardation, Neurocutaneous syndrome, Imaging, Tuberous Sclerosis Complex.
Cite this article: Idowu BM. Tuberous sclerosis confirmed on neuroimaging: A case report and literature review. Yen Med J. 2021;3(3):195–200.
- Mostafa K, Rasul C, Baruri N, Sultana R. Tuberous sclerosis misdiagnosed as epilepsy. Bang Med J Khulna. 2013;46:31–33.
- Ishii M, Asano K, Kamiishi N, Hayashi Y, Arai D, Haraguchi M. Tuberous sclerosis diagnosed by incidental computed tomography findings of multifocal micronodular pneumocyte hyperplasia: A case report. J Med Case Rep. 2012;6:352.
- Dahnert W. Tuberous sclerosis. In: Dahnert W, ed. Radiology review manual. 7th ed. Philadelphia: Lippincotts Williams & Wilkins; 2011:333–335.
- Curatolo P, Moavero R. mTOR Inhibitors in Tuberous Sclerosis Complex. Curr Neuropharmacol. 2012;10(4):404–415.
- Polchi A, Magini A, Meo DD, Tancini B, Emiliani C. mTOR Signaling and Neural Stem Cells: The Tuberous Sclerosis Complex Model. Int J Mol Sci. 2018;19(5):1474.
- Umeoka S, Koyama T, Miki Y, Akai M, Tsutsui K, Togashi K. Pictorial Review of Tuberous Sclerosis in Various Organs. Radiographics. 2008;28(7):e32.
- Portocarrero LKL, Quental KN, Samorano LP, de Oliveira ZNP, Rivitti-Machado MC da M. Tuberous sclerosis complex: review based on new diagnostic criteria. An Bras Dermatol. 2018;93(3):323–331.
- Wataya‐Kaneda M, Uemura M, Fujita K, Hirata H, Osuga K, Kagitani‐Shimono K, et al. Tuberous sclerosis complex: Recent advances in manifestations and therapy. Int J Urol. 2017;24(9):681–691.
- Radhakrishnan R, Verma S. Clinically Relevant Imaging in Tuberous Sclerosis. J Clin Imaging Sci. 2011;1(2):39.
- Greenspan B, Jordan L, Glasier C, Coombs B, Krasny R, Smirniotopoulos J. Tuberous Sclerosis Imaging: Practice Essentials, Radiography, Computed Tomography. Available from: https://emedicine.medscape.com/article/385549-overview#showall. Accessed May 11, 2020.
- Kalantari B, Salamon N. Neuroimaging of Tuberous Sclerosis: spectrum of pathologic findings and frontiers in Imaging. Am J Roentgenol. 2008;190(5):W304–W309.
- Nabbout R, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, et al. Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study. Epilepsia Open. 2018;4(1):73–84.
- Słowińska M, Jóźwiak S, Peron A, Borkowska J, Chmielewski D, Sadowski K, et al. Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures? Orphanet J Rare Dis. 2018;13(1):25.
- Wang S, Fallah A. Optimal management of seizures associated with tuberous sclerosis complex: current and emerging options. Neuropsychiatr Dis Treat. 2014;10:2021–2030.
- Randell E, McNamara R, Davies DM, Owen-Jones E, Kirby N, Angel L, et al. The use of everolimus in the treatment of neurocognitive problems in tuberous sclerosis (TRON): study protocol for a randomised controlled trial. Trials. 2016;17:398.