Neurology: Tuberous Sclerosis

Question 1

How does it occur?

Answer 1

Gene mutation - 70% de novo

Can be autosomal dominant inheritance

Question 2

Describe the cutaneous features

Answer 2

Depigmented ash leaf shaped patches or amelanotic naevi which fluoresce under UV light
Roughened patches of skin usually over lumbar spine
Angiofibromata in a butterfly distribution over nose bridge and cheeks

Question 3

What neurological features occur? (Seen in 50%)

Answer 3

Infantile spasms and developmental delay
Epilepsy - often focal
Intellectual disability, often with autism

Question 4

What other features are associated?

Answer 4

Fibromata beneath nails
Dense white areas on retina - degeneration
Rhabdomyomata of heart - usually resolves in infancy
Cysts in lungs
Polycystic kidneys