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Hello, I am a mom in a panic over my 4-year old child's cafe-au-lait spots. Obviously my concern is NF1. He is very extremely bright according to his pediatrician, great language skills, quite tall for his age (43-inches). However, he does have several cafe-au-lait spots. At least 4 are larger than 5-mm, whereas one is iffy, but right around 4 mm. He also has about 4 other very small ones. I am seeking clarification regarding information that I have read in some of the valid references:
1. What is the criteria regarding the CAL spots? it >5 mm, or the size of a dime...a quarter? Different resources have listed different criteria.
2. If my four-year old meets the criteria for the CAL spots, but no other conditions are present, should I request a genetic test?
3. Neither my husband or I have NF1 to our knowledge. However, my son's paternal grandmother expressed one-year ago that she was concerned that she might have NF. She has seizures and vision problems. She mentioned that she has cafe-au-lait's and she has also mentioned that she has some bumps down her back. I do understand that 50% of the cases are autosomal dominant, which means that my husband would have to have the condition, so I am unsure as to what, if anything, this would mean in terms of a risk factor.
4. One physician told me that other signs would be present by the age of 4. However, other references have stated that the condition is often not diagnosed until around 8-years old because the other signs have not presented.
Could someone please clarify?