Condition- Neurofibromatosis

Question 1

What is neurofibromatosis

Answer 1

An autosomal dominant genetic disorder affecting cells of the neural crest leading to the development of neurocutaneous tumours

Question 2

Which gene is mutated in Type 1 neurofibromatosis (give Chr#)

Answer 2

NF1 gene on Chr17

Question 3

Which gene is mutated in Type 2 neurofibromatosis (give Chr#)

Answer 3

NF2 Chr22

Question 4

List some of the presenting symptoms of Type 1 Neurofibromatosis?

Answer 4

• Cafe au lait spots
• Freckling of skin folds
• Neurofibromatoses
• Lisch nodules on iris
• Spinal deformities
• Precocious puberty: short stature, learning disabilities

Question 5

List some of the presenting symptoms of Type 2 neurofibromatosis. (Type 2= 2 ears/ eyes)

Answer 5

• Vestibular schwannomas
• Balance problems
• Tinnitus
• Hearing loss
• Headaches

Question 6

State the criteria for the clincial diagnosis of Type 1 neurofibromatosis

Answer 6

• Pre-pubertal: >5 cafe au lait spots >5mm each
• Post-pubertal: >5 cafe au lait spots >15mm each

Question 7

A patient presents to you with these signs. What is the diagnosis?

Answer 7

Type 1 Neurofibromatosis

• Cafe au lait spots
• Neurofibromas
• Lisch nodules