Tuberous Sclerosis Flashcards
What is Tuberous Sclerosis Complex (TSC)?
Tuberous Sclerosis Complex is a genetic multi-organ disorder characterised by the development of hamartomas, most commonly affecting the skin and brain.
It is dominantly inherited.
What are the complications of Tuberous Sclerosis?
Subependymal Giant Cell Astrocytomas (SEGA) causing hydrocephalus.
Infantile Spasms (generally within the first year of life) with significant developmental impairment.
How common is Tuberous Sclerosis?
Tuberous Sclerosis occurs in approximately 1 in 6000 live births.
Reference: Tuberous Sclerosis Alliance
What is the underlying genetic mutation?
TSC1 or TSC2 genes
How is Tuberous Sclerosis diagnosed?
Diagnosis requires:
- 2 x Major
- 1 x Major + 2 x Minor
Major
Hypomelanotic macules (>3, at least 5mm diameter)
Angiofibromas (>3) or fibrous cephalic plaque
Ungal fibromas (>2)
Shagreen patch
Multiple retinal hamartomas
Cortical dysplasias
Subependymal nodules
Subependymal giant cell astrocytoma
Cardiac Rhabdomyoma
Lymphangioleiomyomatosis (LAM)
Angiomyolipomas (>2)
Minor
‘Confetti’ skin lesions
Dental enamel pits (>3)
Intraoral fibromas (>2)
Retinal achromatic patch
Multiple renal cysts
Non-renal hamartomas
Reference: Tuberous Sclerosis Alliance
How is Tuberous Sclerosis managed?
Brain
Infantile Spasms
1st line: Vigabatrin
2nd line: ACTH
Other: Surgery, Vagus Nerve Stimulation
SEGA
Everolimus (mTOR antagonist)
Eyes
Ablative therapy for lesions
Heart
Rhabdomyoma
Antiarrhythmics and diuretics
Radiofrequency ablation
Kidney
Angiomyolipoma
Embolisation (if acute haemorrhage)
mTOR inhibitor
Surveillance in Tuberous Sclerosis
Brain MRI
EEG
Eye Exam
Dental Exam
Skin Exam
