Do I have NF

[LukeL]

When I was 6 years old I was sent to the genetics deapartment at Children's Hospital of Wisconsin because my regular doctor discovered some cafe au lait spots on me.

After being evaluted by a gentisits, nurologist, speech pathologist etc. They determined I had NF based on the cafe au lait spots, freckling in my groin, short stature large head size despite normal brain anatomy and above normal intelligence, speech problems and delayed motor skills.

Since then I have not developed any other symptoms (I am now 20). I do not have any orthopedic signs of the disease, no lisch nodules, no relaitves with NF, no neurofibromas etc.

However I do have giant cell like tumors in my femur and tibia and  in my upper and lower jaw as well as cysts in my mouth.

I believe they are all confined to the left side of my body. To me this sounds like fibrous dysplaisa, cherubism, or McCune Albright. But my cafe au lait spots and freckling are on both sides and extend below my trunk. They are also the coast of california type.

I know the above is outside your field of study.


I am also  wondering if my cafe au lait spots and crowe's sign  are idiopathic in nature as I am fair skined and have a lot of other skin markings. My mother also has two cafe au lait spots

Also the doctor who orignally sent me for testing has since doubted that I have NF.

My questions are:

1. Does it sound like I have NF?
2. Could the bone tumors indicate something else?
3. What would your DDX be based on my description?

Thank you for your time.

[CCF-Neuro-M.D.-PW]

sphenoid wing bone dysplasia is one of the major diagnostic criteria for NF and other bony dysplasia can occur, so this is consistent with the diagnosis. Over 6 cafe au lait spots is also suggestive. NF can cause macrocephaly also. NF would be the most common cause of your signs. More rearley NF can be segmental, that is, confined to one limb or one hemibody also. There is a wide variation in the clinical expression of NF, but nowadays any clinical ambiguity can be confirmed by a genetic test - ask your doctor about ordering this.

[lil sunshine]

I'm sorry , I mis read your post. I now found out on Thursday that on my hip MRI on my "good" left hip that they found a lesion they suspect is cancer. I have to have a repeat MRI with contrast on MOn. I have been in a lot of pain and thought it was just sciatic pain from ruptured disc, or dr thought hip necrosis. I am praying for another giant cell, that is better.

[lil sunshine]

Hi my daughter has the cafe au lait birth marks and large head circumference as well as a brain defect{absence of the septum pellucidium which causes her ventricles to enlarge} and she is thought to have NF1. She has a dx of PTC due to the increased spinal fluid and headaches she suffers everyday.It's funny you should mention Giant cell tumors of the femur as I had one on my femur which resulted in above the knee amputation of my right leg.I too have 4 CALs and a seizure disorder which I understand is a rare complication of NF. My daughter and I aren't dxed with NF nor anyone in are are family that we know of.
Good luck to you

[LukeL]

Well I have never come across non  neurofibroma bone tumors occcuring in an NF patient in any medical literature I have read, so I was a little confused. I however have about 10 cafe au lait spots which meat the criteria for NF (greater then 15MM in diameter)

My tumors however aren't true giant cell tumors they just have the apperance of them on X-Rays as they don't expand past the bone tissue.

I am sorry to hear about you and your daughters medical problems and hope you can get a correct diagnosis.