Tuberous Sclerosis is an autosomal dominant neurological disorder characterized by the grown of benign tumors in the brain and other organs.
Tuberous Sclerosis is caused by mutations of tumor suppressor genes, including Hamartin (TSC1) on chromosome 9, and Tuberin (TSC2) on chromosome 16 tumor suppressor gene. These mutations cause the development of hamartomas in various organs.
Clinical features include skin findings like angiofibromas, shagreen patches and ash leaf spots. Cardiac findings including mitral regurgitation and rhabdomyomas can occur. Renal angiomyolipomas can occur, and brain involvement can lead to seizures and West Syndrome in infants, as well as developmental delay and intellectual disability.
Remember the findings and clinical features in Tuberous Sclerosis using the mnemonics ASH LEAF and HAMARTOMAS.
- Ash leaf spots
- Shagreen patches
- Heart Rhabdomyoma
- Lung lymphangioleiomyomatosis
- Facial angiofibroma
- Hamartomas in CNS and skin
- Mitral regurgitation
- Ash-leaf spots
- cardiac Rhabdomyoma
- Tuberous sclerosis
- autosomal dominants
- Mind and intellectual disability
- renal Angiomyolipoma
- Seizures and Shagreen patches
Here is the third useful mnemonic for cutaneous and systemic manifestations of tuberous sclerosis (also known as Bourneville syndrome or epiloia)
Tubers, cortical Tonic-clonic seizures
Ash leaf macules
Mental retardation (MR)
Hope that mnemonic helped. Got a better mnemonic for the same? Let us know in the comments below.
Also check out these medical mnemonics