Tuberous sclerosis confirmed on neuroimaging: A case report and literature review

Idowu BM1*
1Department of Radiology, Union Diagnostics and Clinical Services, No 37 Tejuosho Street, Yaba, Lagos State, Nigeria.
*Correspondence: Dr. Bukunmi Michael Idowu, ibmcontacts@gmail.com

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Abstract

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.

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