Neurofibromatosis

Question 1

What is neurofibromatosis.

Answer 1

Genetic disorders that affect the growth of nerve cells and lead to the formation of tumours on nerves.

Question 2

What is neurofibromatosis separated into. (2)

Answer 2

Separated into Type 1 and Type 2.

Question 3

What is the mode of inheritance of neurofibromatosis. (2)

Answer 3

Autosomal dominant.

Although many new presentations are due to genetic mutations.

Question 4

What is the main complication of neurofibromatosis.

Answer 4

Increased risk of malignancy.

Question 5

What does the slip lamp test for in neurofibromatosis.

Answer 5

Lisch nodules.

Question 6

How many criteria are needed to diagnose type 1 neurofibromatosis.

Answer 6

2 or more out of 8.

Question 7

How many criteria are needed to diagnose type 2 neurofibromatosis.

Answer 7

Just one out of three.

Question 8

What is the criteria for diagnosis type 1 neurofibromatosis. (8)

Answer 8

Five or more light cafe au lait macules (diameter>5mm in prepubertal patients or >15mm across in postpubertal patients).
Two or more neurofibromas or one plexiform neurofibroma.
First degree relative with neurofibromatosis 1.
Two or more Lisch nodules (iris hamartomas).
Freckling in the armpit or groin areas.
Optic glioma.
Severe scoliosis.
Other bony enlargement or deformity.

Question 9

What is the criteria for diagnosis type 2 neurofibromatosis. (3)

Answer 9

Bilateral tumours of the 8thCN.
OR
First degree relative with neurofibromatosis 2 PLUS unilateral 8thCN tumour.
OR
Two neurofibroma, glioma, schwannoma, meningioma, or juvenile cataracts.