Learning objectives
To provide a pictorial review of the radiological signs associated with Tuberous Sclerosis in the CNS
To provide an overview of Tuberous Sclerosis
Background
Tuberous Sclerosis (TS) is an autosomal-dominant inherited neurocutaneous disease associated with benign hamartomas in several organs such as the brain, kidneys, skin, heart and lungs (1, 2). TS has an incidence of 1 in 6000-10,000 individuals, and is due to a inactivation in either the TSC2 or TSC1 gene (3). Inactivity of these genes results in a deficiency in the ability to form the tumour suppressor complex, mTORC1, this results in overactivation of the mTOR signaling pathway(3).
Diagnosis is made upon clinical and radiological features...
Imaging findings OR Procedure details
Cortical Tubers are a common radiological findings in TS, with a prevalence of over 90%(5). They are composed of disorganized neuronal and glial cells commonly seen in the frontal lobes (2). Studies have shown a link between the number of cortical tubers and cognitive disability, neurobehavioural disability and epilepsy (2, 6, 7).
On MR imaging they are typically high signal intensity on T2W/FLAIR and low signal intensity on T1W (5). Due to lack of myelination, infants may display cortical tubers with inverse signal intensity patterns...
Conclusion
TS is a rare neurocutaneous disease. Imaging plays a significant role in diagnosis, therefore, the ability for Radiologists to recognize and describe its features is vital. This pictorial showcased and summarized the CNS manifestations of TS.
References
References
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Manoukian SB, Kowal DJ. Comprehensive imaging manifestations of tuberous sclerosis. AJR Am J Roentgenol. 2015;204(5):933-43.
Islam MP. Tuberous Sclerosis Complex. Semin Pediatr Neurol. 2021;37:100875.
Crino PB, Nathanson KL, Henske EP. The tuberous sclerosis complex. N Engl J Med. 2006;355(13):1345-56.
von Ranke FM, Faria IM, Zanetti G, Hochhegger B, Souza AS, Marchiori E. Imaging of tuberous sclerosis complex: a pictorial review. Radiol Bras....