nf1 symptoms and diagnosis

[jilo77]

I have a 16 month old biological son.  Last year at 6 months old he had 2 very faint cafe au lait spots, one on his cheek and one on his forehead.  My pediatrician and dermatologist examined him and told me that they weren't concerned. Yesterday, I am not sure, but I may see one more really faint one.  He does walk slightly bowlegged but so did my adoptive son at this age.  The bowleggedness is not just on one leg it is just slightly bowlegged.  There is no family history of nf1 on either my husband or my family.  He has no other symptoms.  No freckling, or anything else besides these 2 maybe 3 CAL spots.  I am still worried and was wondering if anyone could please tell me at what age is my son somewhat "in the clear".  Are most children diagnosed with the 6 or more CAL's at birth or could it take 5 or 10 years to crop up?  I think the bowlegs is just normal toddler walking but I was wondering with NF1 is the bow legs on just one shin or both?  Anyone who might be able to give me some insight would be great!  Thank you!

[siennarose]

My grandson is 5 months and we found 2 cafe au lait a month ago, since then, we have noticed  6 more crop up, each day they get darker and larger, his head is large, he is bow legged, and his mother  has NF1 and  Ehlers  Danlos.
I am almost certain  this will lead to a diagnosis...
But  lot of people do have the occasional  cafe au lait,
I think you can only wait. My daughter  was diagnosed at 6 after her  2 CALs  grew to  about 50 in a few short years. No fibroma, but  plenty of learning  difficulties..  symptoms worsened  during puburty, and pregnancy,
Its  scary how it can  mutate and change.
my neice  has syringmyelia.. I believe  related.
We will not get my grandson tested  till his  CAL   are numbered to  6 over a  cm .

[jilo77]

Do you mean that almost everyone (including those who do not have nf1) have a few of these CAL's?  I just want to clarify.  Thanks for responding!!

[Quixotic1]

I spoke too hastily in my estimation of how many people without NF have cafe au lait spots.  I sincerely apologize.  I saw them "all the time" in practice and misremembered the incidence.  They appear in about 20% of all caucasion children and about 30% of all african-descent children.  They may be not clearly visible until a child is 2 to 3 years old.

To be counted toward NF diagnosis they must each be at least 5mm in longest diameter (in a young child and greater than 15mm in the postpubertal child) and to fullfil the number critierion there must be at least 6.  Each one after  3 lesions raises the "suspicion" of NF.  
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The diagnostic criteria for NF1 are met if 2 or more of the following are present:

1) Six or more CAL macules larger than 5 mm in greatest diameter in prepubertal individuals and larger than 15 mm in greatest diameter in postpubertal individuals

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

3) Freckling in the axillary or inguinal regions

4)Optic glioma

5)Two or more Lisch nodules (iris hamartomas)

6) A distinctive osseous lesion, such as sphenoid dysplasia or thinning of the long bone cortex, with or without pseudoarthrosis

8) A first-degree relative with NF-1, according to the above criteria

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Again, I apologize for speaking so broadly. Quix

[Quixotic1]

No, most children are not picked up in infancy.  The spots tend to appear in the early years of young and older childhood.  In the absence of a family history it's usually a wait and see.  Other things to look for include "frecking" in the armpits.  Almost everyone (well, more than 50% of all kids have a few, often even one that is large - well over two cm.

I hope this is reassuring.  Quix