Tuberous Sclerosis Complex


OSMECON is Osmania Medical College’s flagship event which aims at inculcating a healthy and competitive atmosphere of learning and medicine through discussions and research. Designed as a special platform presented by Osmania Medical College to promote undergraduate talent, it instils scientific reasoning and reinforces the values of medical research.
OSMECON was started in 2010, as a small one day event. Since its inception, OSMECON has grown to be an undergraduate national conference showcasing the talent of bright and young medicos all over the country.
OSMECON 2018 was held on 10th, 11th and 12th of August 2018.
Case Presentation, an event under OSMECON, provides a unique opportunity to get ahead of the game by presenting a rare and interesting clerked case to the vast network of medical fraternity.
To know more about OSMECON,
► Visit us on: www.osmecon.org
► Subscribe to: https://www.youtube.com/user/Osmecon2014
► Follow us on Facebook: https://www.facebook.com/osmeconosmania/
► Follow us on Instagram: https://www.instagram.com/osmecon2018/


Project title: New target discovery for tuberous sclerosis treatment
• Dr Amanda Almacellas Barbanoj, University College London (UCL)
• Supervisors: Assoc. Professor Gabriele Lignani (UCL), Dr Sila Ultanir (The Francis Crick Institute)
Read more about this project here: https://epilepsyresearch.org.u....k/research_portfolio


Watch more Epilepsy & Seizure Disorders videos: http://www.howcast.com/videos/....502039-What-Is-Tuber
Patty McGoldrick: There is a syndrome, Tuber Sclerosis, that's a genetic disorder that's associated with legions on the skin, birth marks, as well as lesions in the brain, seizures, autism, developmental delays. The children that are diagnosed with it can also have problems with their kidneys, problems with their heart, problems with their eyes.
Steve Wolf: This is an important diagnosis to make early on. This is a genetic disorder that can happen for really no reason. Occasionally can happen in a family...
Patty: In a family...
Steve: with patients with Tuber Sclerosis. If you make the diagnosis early, there are a bunch of things that need to be monitored, as Patty had mentioned, involving the eye and the kidneys. And it's important to get the seizures under control because it could affect cognition and development.
Patty: Now often these children present with seizures at a very early age in infancy. There's something called infantile spasms, that consists of these very specific seizures with the head drops, and arms up. They were called in the past salaam seizures, because they almost look like the child was bowing. These need to be controlled early on, as soon as possible, to prevent regression and developmental delay, as well as managing the rest of the Tuber Sclerosis.
Steve: There are a number of medications that are really good for treating Tuber Sclerosis, as well as epilepsy surgery is also very effective in patients with Tuber Sclerosis.
Patty: So Tuber Sclerosis, lesions in the brain, skin abnormalities, cardiac, eye, kidney effects, high incidence of autism, and a high incidence of infantile spasms.
Steve: There's a very good website, called Tuber Sclerosis Alliance, which has a lot of excellent information about Tuber Sclerosis, that you might find very helpful.
Patty: And the people affiliated with the TS Alliance have centers where these children are managed in a sort of medical home setting.