Showing posts with label Diagnostic criteria for Neurofibramatosis I. Show all posts
Showing posts with label Diagnostic criteria for Neurofibramatosis I. Show all posts

Friday, March 19, 2010

Diagnostic criteria for Neurofibramatosis I

NF I ( Mutation of chromosome 17)

Presence of 2 or more of the following

1. Six or more Cafe-au-Lait Spots of

           >5mm in pre pubertal age group 

           >15 mm in post pubertal age group

2. Two or more neurofibromas of any type or 1 plexiform neurofibroma

3. Freckling in axillary or Inguinal regions

4. Optic gliomas

5. Two or more Lisch nodules ( Slit lamp examination)

6. A distinctive ossesous lesion like Sphenoid dysplasia, Thinning of long bone cortex with or without pseudoarthrosis

7. A parent or sibling or child with NFI according to above criteria