Abstract
Summary: Tuberous sclerosis (TS) is a rare genetic disease of autosomal-dominant transmission. Mutations in either the tuberous sclerosis complex 1 (TSC1) or tuberous sclerosis complex 2 (TSC2) genes result in hamartomas affecting many organs, such as the brain, heart, kidneys, skin, lungs and liver. We report the observation of a 17-year-old girl with facial angiofibromas, hypo-pigmented skin lesions on the lower back and back of the right wrist and a history of seizures. The patient was admitted to the emergency department for treatment-resistant status epilepticus and was referred to our training for magnetic resonance imaging (MRI) of the brain. Brain MRI revealed subependymal nodules, cortical tubercles, and white matter abnormalities.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.