Neurofibromatosis

Question 1

Anterolateral tibial bowing and pseudoarthrosis of the tibia are a/w what congenital disease?

Answer 1

Neurofibromatosis; AD
50% of those with anterolateral bowing have NF
10% of persons with NF have anterolateral bowing

Question 2

What is the inheritance pattern and gene involved with neurofibromatosis?

Answer 2

autosomal dominant; mutation in NF1 gene that codes for neurofibromin protein; on Ch 17q21

Question 3

What are clinical features of neurofibromatosis?

Answer 3

1) Cafe au-lait spots (smooth borders)
2) Lisch nodules
3) Optic glioma
4) axillary freckling
5) scoliosis (sharp dystrophic)
6) anterolateral bowing of tibia
7) Hemihypertrophy
8) Plexiform neurofibroma

Question 4

Anterolateral, anteromedial and posteromedial bowing have what associations?

Answer 4

Anterolateral- neurofibromatosis
Anteromedial- fibula hemimelia
Posteromedial- abnormal uterine positioning

Question 5

What is the treatment for anterolateral tibial bowing?

Answer 5

If no pseudoarthrosis- total contact orthosis bracing
If pseudoarthrosis- osteotomy, bone grafting and fixation (Charnely Williams rod)
If 3 failed surgeries- Syme amputation