Tuberous sclerosis Flashcards
What is TS
Multi system disorder where benign lesions can occur on any organ
It’s genetic
What % are CNS presentations
85%
What brain abnormalities present
Cortical tubers
Subependymal nodules
Subpendymal giant cell astrocytomas - 10%
AD or AR
Autosomal Dominant
What are the neurological manifestations?
Epilepsy - 85% (Focal seizures and infantile spasms)
Cognitive and behaviour - Seizures, severe autism/ADHD, aggression in 30%, IQ below 70 in 50%
What medication is used to treat the epilepsy
Vigabatrin - works in 95%
What are non-neurological presentations?
Forehead plaque on adolescents
Where areas do non-neurological manifestations occur?
Renal
Cardiac
Eye
Lung
Clinical management?
Long term surveillance
MRI brain before 2 years, repeated every year until 21
Epilepsy surgery
Ketogenic diet
Rapamycin mTOR inhibitors (SGCT)
What physical presentations are there
Facial Angiofibromas
Ash leaf spots
Shagreen patches
What genes are involved in TS
TSC1 - Hamartin
TSC2 - Tuberin
Signs of TS
Facial angiofibromas
Forehead plaques
Shagreen patches
Cardiac rhabdomyoma
Skin problems in TS (Cutaneous)
Facial angiofibromas (late
childhood/ adolescence)
Hypomelanotic macules
(ash leaf)
Ungula/gingival fibromas
Shagreen patch
What medication is used to treat cardiac rhabdomyomas and SEGAs?
Rapamycin
