Tuberous Sclerosis is a neurological disorder characterized by the grown of benign tumors in the brain (cortical tubers) and other organs. Patients may present with a number of unique findings, such as shagreen patches, ash leaf spots, cardiac rhabdomyomas, hamartomas, seizures (West Syndrome), and more. Part of our Neurological Disorders playlist for the USMLE Step 1 and NBME shelf exams.

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Tuberous sclerosis, also called tuberous sclerosis complex (TSC), is a genetic, life-long condition that causes lesions and benign tumors in the organs (mainly the brain, eyes, heart, kidney, skin and lungs). These lesions and non-cancerous tumors continue to grow because the body’s cells reproduce when they shouldn’t. Derek Bauer, MD, discusses the symptoms and treatment of TSC.

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Tuberous sclerosis is a disease that manifests across the age spectrum. Children predominantly have neurologic manifestations, including seizures, developmental delay, and there’s a strong correlation with autism spectrum disorder as well.

As children get older, other manifestations emerge, including the development of tumors on the kidneys. As well as various dermatologic or skin manifestations that, depending on the patient, can be more or less burdensome. To fully get the appropriate treatment for tuberous sclerosis, having a multidisciplinary treatment team is a key aspect of the disease and its treatment.

We have a dedicated space for the treatment of children and adults at the same time. That’s really important because tuberous sclerosis is a genetic condition, meaning multiple family members, children and adults, can have the disease. Instead of having to have families go to two separate places to see providers, we have a dedicated space for both pediatric and adult neurologists, as well as other experts in tuberous sclerosis that can see patients and families together.

This webinar is brought to you by Evenings with Genetics. Evenings with Genetics is a community outreach program sponsored by the Department of Molecular and Human Genetics at Baylor College of Medicine and Texas Children’s Hospital.

The presenter for this webinar is Rohini Coorg, M.D., assistant professor of pediatrics-neurology, Baylor College of Medicine.

Learn more about Evenings with Genetics
https://www.bcm.edu/department....s/molecular-human-ge

Case of the week provides short summary of most interesting cases available in the RSNA Case Collection.
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Link to RSNA case Collection: https://cases.rsna.org/
Link to the case: https://doi.org/10.1148/cases.20201374

Watch this informative video on Tuberous Sclerosis.

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Previous data has shown that early seizure control in children can improve learning as compared to those with poorer control. Some antiseizure medications are effective in individuals with TSC; although, there remains a portion of the population that remains refractory to the medications available. An ongoing phase 1/2 trial, TSC Steps (NCT04595513), is assessing whether treatment with TAV-18, a novel formulation of sirolimus, a mechanistic target of rapamycin (mTOR) inhibitor, can prevent or delay seizure onset in patients with TSC.

If successful, this study could have significant impacts on the way patients with TSC are treated, and the timing in which they receive treatment. Recently, NeurologyLive® sat down with trial investigator Darcy Krueger, MD, PhD, to discuss exploring different types of approaches to TSC, including combining therapies early in a patient’s diagnosis. Krueger, director of the Tuberous Sclerosis Clinic at Cincinnati Children’s, detailed the challenges with expanding ways to treat the disease, as well as provided commentary on the significance of TSC Steps and the thoughts of preventing seizures in TSC.

(https://www.neurologylive.com/....view/uncovering-new-

More Content on TSC Alliance:
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