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

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