Neurofibromatosis and Tuberous Sclerosis

Question 1

What is the pattern of inheritance of neurofibromatosis and tuberous sclerosis?

Answer 1

Autosomal dominant

Question 2

What is this a presentation of?
Six or more café-au-lait spots over 15mm in diameter. Dermal neurofibromas, axillary/groin freckles, Lisch nodules (iris hamartomas).

Answer 2

Neurofibromatosis type 1

Question 3

What is this a presentation of?
Bilateral vestibular schwannomas (sensorineural hearing loss), multiple intracranial schwannomas, meningiomas, and ependymomas.

Answer 3

Neurofibromatosis type 2

Question 4

Which type of neurofibromatosis is more common?

Answer 4

Type 1 (90%)

Question 5

What is tuberous sclerosis?

Answer 5

Formation of ‘tubers’ (hamartomas) in many organs, including the brain.

Question 6

What is this a presentation of?
Depigmented ash leaf macules, adenoma sebaceum. Effect of various systemic tumours. Children may have learning difficulty and epilepsy.

Answer 6

Tuberous sclerosis