• Many people in the general population have a few cafe au lait spots and never develop NF. That being said, a young infant (less than 6 months) with 3 or 4 spots is a child who is very likely over time to develop this condition. There are a few families who seem to have inherited multiple cafe au lait spots without NF, but they represent the exception rather than the rule. Therefore, a child with six or more cafe au laits is likely to have NF unless he or she has very fair, freckley skin (what I call the "Irish" phenotype).

• In the strictest sense one cannot irrefutably confirm the diagnosis of NF unless there are at least 2 of 7 diagnostic criteria met. This means for most infants, in the absence of a positive family history, we need to watch and wait for the signs to appear over time.

• A reasonable approach for the infant with several cafe au laits is to ask a few basic questions about the family history. Does a parent or sibling have similar brown birth marks? Anyone in the immediate family with growths under or on the skin? Anyone with visual problems not correctable with glasses? It is difficult to ask too many questions without unnecessarily alarming the parents. If the family history is negative (which it is in as many as half of the children with NF), you may wish to watch for additional signs of NF on serial well child exams. As children grow older they are likely to get more spots as well as axillary or inguinal freckles. Make sure the armpit and groin areas are checked on each and every exam. Obviously if the family history is positive you might consider referral for multi specialty care. If six spots eventually appear (greater than 5mm in a child) or freckles develop, then it is reasonable to refer for a more extensive evaluation.

• If you choose to follow a child with a few cafe au laits, it is wise to watch for a few other problems including: developmental and/or speech delay, macrocephaly (which is common and usually not associated with hydrocephalus), scoliosis (seen more often in older children), evidence of visual acuity problems, asymmetric bowing/ thinning of the tibia or plexiform neurofibromas (uncommon in young children). Blood pressure should also be checked at each visit.

• Remember the key to success is careful observation, knowledge about the patient and family dynamics as well as knowing if or when to call upon other colleagues such as the pediatric neurologist, pediatric ophthalmologist or geneticist. The Neurofibromatosis Center of NJ is only a phone call away. Current coordinator is Karen Valdez, MS at (973) 972-3300. Questions without referral are welcome!!

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