NF1

FACTS

 
  • AD (although 50% sporadically too)
  • mutation of neurofibromin gene on 17q (tumor suppressor, negatively suppressing Ras)
 
Diagnostic criteria (NIH), 2 of 6
  1. six + cafe-au-lait macules w/ diameter max > 5mm (prepubertal patients) or >15mm in post-pubertal patients
  1. 2+ neurofibromas of any type (or one plexiform neurofibroma)
  1. freckling in axillary/inguinal region
  1. optic glioma
  1. 2+ Lisch nodules
  1. osseous lesion such as sphenoid wing dysplasia or thinning of long bone cortex
  1. first degree relative with NF1

HPI

CNS Tumors
  • optic pathway glioma (#1 most common - 15-30%)
  • astrocytoma
  • neurofibroma
 

PHYSICAL EXAM

IMAGING

 
A/P
 

Cafe au lait spots

Cafe au lait spots are typically
Cafe au lait spots are typically
notion image