Newly diagnosed with NF1, MRI findings?

My daughter is 10 years old and was recently diagnosed with NF1. The neurologist she is seeing looked her over for the cafe au lait spots, which he found by the hundreds, and ordered an MRI with contrast and without. When he told us about the MRI, he just said that it showed "consistency with what you expect to see in the brain of a person with NF1". What the heck does that mean exactly? He isn't the best at the whole bedside manner bit...so I didn't ask. I plan on calling and asking to have a copy of the findings sent to our pediatrician so she can explain it to me. However, in the mean time it would be great to know what is "typically" seen in the brain of an NF1 patient?

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The doctor should go over the results with you by showing you the MRI pictures and explaining what they see. Our oncologist spends about an hour every MRI we get.

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the same opinion - Cindy is incredible ;)

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Hi Travterry

My son who does hve an optic glioma was the most horrid sleeper for the first two years, it was only after he went into a big boy bed that he finally settled down. I was always told to keep an eye out for headaches etc.... maybe you could suggest that he may be having headaches. Another thing I suggest is to get his blood pressure checked, arterial stenosis is another thing that Dr's don't generally check when they should.

You don't actually "carry" NF, but it is possible that you could have it and just now show any symptoms. If your first child was a spontaneous mutation of the gene that it is likely that your twins won't have it. If they do show signs of it then I'd say that you probably do.

I'm not sure where you are, I am in Australia and we don't do genetic blood tests for NF here as apparently the results are not always reliable.

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Yes my son was under the billy lights for 24 hours when he was first born, When my son was born I never heard of NF. After the first couple weeks I started to notice some large birth marks on his body, at first I didn't pay it no mind, then they started to progress and be all over his body, thats when I became concerned that something just was not right, Luckily when I took him to his peditrician he recomended that I go to AI Dupont Children Hospital in Delaware (this is also where I live), The genetist there told us they where called cafe au lait spots, and they where associated with a genetic disease called neurofibromatosis. She told me that since he was only a couple months old that they could not fully diagnosis him, but they would monitor him to see if any of his symptons progress. The geneticst at the time said that even though he did have over 30 spots, he was showing any other signs at the time, (even though I thought that they could diagnosis you if you had a certain amount of spots and had to be certain cm, which he deff qualified for) but they ran some blood test, and did xrays on him. My son was born with a larger head throughout his first couple of years he was always in the 90th percentile or off the charts on his head size, and also has really flat feet, which they told me is also connected to NF, I honestly just thought his head was normal, because all my siblings and there children all where born with large heads, so I thought it was just our family. I did start to notice that he was a little on the slow side on hitting his milestones like crawling, walking, using the potty. But when it comes to other things was always advanced in talking, counting, colors, association, reading, it just seemed like his other I guess motor development was behind. The years went by and he continued to see the geneticst, and the continued to monitor him for NF, and the spots kept comming. About a month ago he had his annual check up with the geneticist who finally said that she was going to diagnosis him with NF1 that all of the things he was exhibiting since he was born where enough to finally diagnosis him. I was not happy at ALL that it took them that long to diagnosis him, I am happy though that they did notice it early and monitored him for it. She said his muscle tone in his arms, his large head, his ears are a little lower on his head, his cafe au lait spots, his flat feet, slow motor skill development, was finally enough to say that he has NF1. She ordered him to have a MRI finally which is next week. He did see the eye doctors two weeks ago to check his eyes but she found nothing but said that they wouldn't really know until the MRI. I am not sure if this is also happening to any of you, or your children but my son has the worst sleeping disorder I dont think he has slept a full night since he has been born, He wakes up mutiple times a night crying, kicking almost as if he is in pain, and it is hard to comfort him back to sleep, and when I finally am able to it takes about another hour or two for the whole thing to start up again. I recently found out that there is a lot of sleep disorders assocaited with children with NF, but I honestly dont know how to help him or what steps I should take. Everytime I take him to the doctors all they keep telling me is that it sounds like night terrors and he will eventually grow out of them. We actually just had twins about 3 weeks ago they where born at 32 weeks, but they are doing amazing and should be comming home this week, but I told the doctors there about my sons NF1 and they told me that I should get tested to see if I was a carrier or not, since my first has a diffrent mother then the twins, and they said that if I was the carrier they would observe them, but if not that they wouldnt have NF. Is it possible to be a NF carrier and not show signs or have NF yourself?

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Hi Anna,
Not sure who you where asking but as I'm in Sydney I thought I'd answer you.

I first noticed my son's CAL's at about six weeks old, he did have some mild jaundice at birth but so did my other two children who don't have NF. His NF was passed on from his father so it was something I was looking out for anyway and new what to look for. He had his first MRI at 10months old and on that he had the UBO's that the others have mentioned in earlier posts, and an optic glioma. He also has renal artery stenosis and has high blood pressure because of this and takes medication. Apart from that you would never pick him to have any medical problems, he's happy, active, healthy and such a beautiful natured (but cheeky) little boy.

There is a NF clinic at the childrens Hospital Westead, they are fantastic and all the Dr's (not just the neurologists) seem quite knowledegable about NF, all of our Dr's are under the one roof and communicate with each other.

Another lady I met on here is travelling down from Queensland to see Dr's down here for her little boy.

There is alot of information on the website www.ctf.org

Here is the information for westmead if you wanted to give them a call.....

Neurogenetics Clinic
Location Children's Assessment Centre (CAC) Level 3
Appointments Ph (02) 9845 3273
Consultants * Prof K North (Geneticist/Neurologist)
Dr K Jones (Geneticist)
Dr M Wilson (Geneticist)
Dr R Webster (Neurologist)
Dr J Antony (Neurologist)
Clinic days Wednesday, 2 pm, Weekly
Method of referring
Referrals can be made either by telephone contact with Clinical Genetics secretary (02 9845 3273), followed by written referral from referring doctor, or directly by written referral from doctor. Referrals must be from a registered medical practitioner (GP, specialist or consultant) and can be directed to any clinical geneticist listed above. Requirements will be advised at booking by genetic staff. Requests to see a specific geneticist or neurologist can be considered, but are not always possible. All appointment requests are triaged by clinical staff and appointments may be allocated to another Genetics Clinic if more appropriate.

I'll add you as a friend if you would like to contact me further....

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Hi
i am taking my 1 year old son back to john hunter hospital in newcastle to be further tested in a few weeks.
where abouts are you?
do you have a nf clinic?

how did your sons nf get picked up?
did he have jaundice (within 24 hours of birth?) or hemalytic aneamia or other blood issues at birth
i am very nervous.

thanks
anna

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Thanks for the info, it is good to know what you guys are going through as well. When Avery had her MRI, there was no sedation. She was a little nervous, but managed to get through it. The first part was done without contrast, and then they had to do like a hep lock IV and gave her the contrast. It burned a lot she said and it made her cry. She didn't like the loud sound the MRI made, so they gave her some earplugs. We only got the MRI of her brain, I would like them to do a full body one.

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What to expect when your child has an MRI for an Optic Glioma.

We, my wife and I, always schedule our daughter's MRI for as early in the morning as possible. Usually it’s at 9:00am. Ashley isn't allowed to eat anything for ten hours before the MRI. It's easier that way since she sleeps through the night and doesn't miss eating. She can drink clear liquids (water, apple juice, etc.) until three hours before the procedure. We give her apple juice at 5:30am.

When we get to Kaiser Hospital in San Francisco, we check in at about 7:00am. They request that we be two hours early for paperwork and a checkup of Ashley's health. The nurse takes her blood pressure, weight and height. She asks if Ashley has been sick in the last few days. She also asks if Ashley is allergic to any medications.

After that, Ashley gets an oral medicine at 8:30am to sedate her just a little. That makes it easier for the person giving the MRI to manager her when we get to the room for the MRI.

When we get to the outer MRI room, we have to remove everything metallic such as watches, keys in pockets and my wife’s earrings. We carry Ashley into the room that has the MRI machine. The anesthesiologist puts a nosepiece to Ashley’s nose and sedates her so that she cannot move during the MRI. They tell us that the MRI will take about 45 minutes.

After the MRI is finished, we all go to recovery to wait for the anesthetic to wear off. This usually takes about an hour. While there, Ashley is monitored to make sure she is coming out of the anesthetic correctly. When Ashley has awakened from the anesthetic, she is given apple juice and cookies.

At this point we are free to leave. Ashley is still a little groggy from the anesthetic and we have to make sure she doesn’t try to walk too fast so she doesn’t lose her balance. When she was younger, we had her in a stroller, so this was not a problem.

By the time we get home, an hour later, Ashley is fine.

We don’t get the results of the MRI that day. It’s usually about a week or two later. We have to meet with an oncologist at Kaiser in Oakland to get the results. He will not give us the results over the phone.

Sorry this is so long. I know it’s a lot to take in at one time.

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The best places to be seen for NF are at the NF clinics where they are accustomed to seeing NF patients on a regular basis and are up-to-date or involved in on-going research.

The purpose of the MRI would be primarily to see if there are any tumors or other obvious NF related anomalies. Do you know if they are doing a full body or only head MRI?

NF children can have a number of tumor types from the standard neurofibromas to the deeper seated, more invasive plexiform type. 1 in 5 NF children will have a type of benign brain tumor called an optic glioma. These tumors often never require treatment unless they are affecting vision. Gliomas have also been known to spontaneously regress later in childhood. Another common brain finding are Unidentified Bright Objects, areas of water that show up as hyperintensities on T-weighted images. These are generally believed to be harmless though their relationship with learning disabilities is sometimes an area of debate.

I'll let other parents describe their MRI experiences but I can tell you that in the vast majority of cases the kids tolerate everything very well. It seems to be one of those things that is definitely harder on the parents. A short time after they wake up most kids are off to do something fun....this often seems to involve ice-cream or a favorite fast food spot. I can understand why you'd be worried but hopefully it will go much better than you are anticipating.

Good luck and do keep us posted.

Cindy

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Hi travterry80

My son is 3 and has had many MRI's over the last three years and all under anaestetic. I am in Australia and not sure if they do anything differenlty here or not but when we come in for our MRI's they put him to sleep with the mask first before putting in any canula's or anything so he doesnt either see or feel it. The MRI takes approx 45mins to an hour and your son should wake up soon after that. It's really more distressing for us parents seeing our child be put under GA. We sit around the hospital for a few hours until he drinks, eats a little and seems quite normal and we go home.
In my experience, they are looking for optic glioma's or any other tumour. Please don't let the word tumour scare you until youspeak to your Dr as in alot of cases these don't pose a problem and are monitored with MRI's.
My son has an optic glioma and has had regular MRI's and opthamology visits to keep an eye on it. His vision so far is fine and he show's no symptoms of anything.

I also have a teenage stepdaughter with an optic glioma that remained stable since it was found when she was quite young, on last MRI it showed it has actually decreased, it has never caused her any problems.

There may be other things they look for and I'm sure there are others with alot more information for you.
As for the CAL marks, the amount of those that your son has have no bearing on how affected he will be by the NF... he could have thousands and never have another problem.. Have they checked your son's blood pressure, I've spoken to so many people who have not had their's checked so I always ask this question as my son also has high blood pressure due to renal artery stenosis and he showed no symptoms of that either....

Hopefully others will know of some good NF Dr's in your area as well as it is detrimental to have a Dr that knows what he's talking about.

The website www.ctf.org is a wealth of information and worth having a look at if you want to learn more about NF.

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Was just reading through all of your post trying to get some more information about NF1, my son who will be turning 4 in August was diagnosed with NF1 a couple months ago. They have been montoring his condition since he was a couple months old, but on his last visit to the geneticist she said she would be officially diagnosing him with NF1. LIke your daughter mairi, my son also has an excessive amount of cafe au lait spots all over his body and they dont seem to be slowing down, of course as any parent this is just heart breaking, because he is now starting to ask me what they are and I just keep telling him that "they are your beauty marks" . My main question is about the MRI my son has his first MRI on the 19th of this month, and of course him being so young they will have to put him under a local anesthia, what exactly will they be looking for and what can I expect, is there any questions I should as of the doctors since obviously as stated in a previous response that staying off the internet is a good idea. The hospital he is going to is AI Dupont Childrens Hospital which is a really good kids hospital I am just concened on how knowledgable they are with his condition Thanks

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Oh, and thanks Cindy. :) We got some fun pictures that day- Hot air balloons are much more fun and much less scary than I thought it would be!

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There is a very well established link between NF and high blood pressure. Not every NF patient will have it (personally my BP is on the low end of normal), but it is common enough that it is really important to monitor it in all NF patients, just as others have stated.

If you want to read it from some sources, check ctf.org, or these links- I copied the info directly relating to high BP.

http://ghr.nlm.nih.gov/condition/neurofibromatosis-type-1
.......
Additional signs and symptoms of neurofibromatosis type 1 include high blood pressure (hypertension), short stature, an unusually large head (macrocephaly), and skeletal abnormalities such as an abnormal curvature of the spine (scoliosis). Although most people with neurofibromatosis type 1 have normal intelligence, learning disabilities and attention deficit hyperactivity disorder (ADHD) occur frequently in affected individuals.

http://www.mayoclinic.com/health/neurofibromatosis/DS01185/DSECTION=complic ations
.....
Cardiovascular problems. People with NF1 have an increased risk of high blood pressure and, rarely, blood vessel abnormalities.
CG

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Aviatress

Blood pressure is definitely something that should be checked if you have NF, My 3yo son has bilateral renal artery stenosis, he has high BP which is controlled by medication. He did have an angiogram and angioplasty to try to widen one artery but as I was informed by the Dr that performed his angioplasty, it is common in NF to have more "elastic" arteries and they tend to bounce back.

My husband also had bilateral renal artery stenosis, as a baby he was operated on to repair the arteries as they where so bad but subsequently he lost a kidney in the process.

I've also read about many many other people on this forum who are on Medication for high blood pressure, and alot at such a young age....

I would like to point out that my son showed no signs whatsoever that he even had blood pressure (I guess that's why high BP is known at the silent killer) it was on a routine MRI that the nurse checked his BP and it was quite high..... otherwise I never would have known.

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Aviatress, Not sure why you think NF does not affect blood pressure. Every NF patient, whether it be an adult or a child, needs to have regular blood pressure checks and it is usually part of the standard monitoring protocol. High blood pressure is not uncommon in NF. Sometimes it is idiopathic but less commonly it occurs as the result of specific NF complication such as Renal Artery stenosis or Pheochromocytoma.

Cindy

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And a couple more things . . . the number of cafe au lait spots have no bearing on the severity of other manifestations of NF-1 (like glioma development). At this age, you are already out of the woods for optic glioma development - so there is one item you don't even have to worry about! They will not need to check her blood pressure, because NF is not going to affect blood pressure - so don't worry about that. Don't worry about the UBOs on the MRIs either . . . they are indicative of NF-1 but are not an issue to worry about . . . those will come and go. Most of all, DO get your daughter hooked in with a good NF clinic. They will just check her for spinal curvature and gliomas, and perhaps cognitive testing so that you can be aware of any ADD issues (which you are likely aware of anyway if they are present), and watch her via MRIs to make sure she does not develop any tumors which need treatment. Good luck!

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My son is 11 and was diagnosed at 6 months. The first thing I would tell you is to breath deep. It's going to be okay. The second thing I would advise is for you to find a good NF center. I would think that is the most important thing you can do. Plan to visit your NF clinic annually . . . and perhaps more often (every three months) when they are monitoring something. I, personally, felt that much of the genetic counseling had little benefit . . . perhaps that will be helpful when my son decides to have kids?? The key is to get your child hooked in with the good NF doctor - at an NF clinic. We absolutely love Dr. Slopis at MD Anderson in Houston - and I cannot recommend that clinic high enough! - yet since we moved we now see Dr Packer at Children's National Medical Center in DC. The best advise that Dr. Slopis gave us was to stay off the internet - and that served us well. He always told us what we needed to know when we needed to know it, and that avoided so much stress for us. I am aware of good NF clinics at Mayo, Boston, DC, and Houston . . . but I am sure there are many others. But most of all, breath deep . . . it's going to be okay. Despite his cafe au lait spots and mild ADD - and more trips to doctors (and MRIs) than he would like, my son is just like any other child.

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You too Caren! I love the new pic.

In hindsight I probably should have clarified that in NF "hamartoma" (as referenced in that first study I posted) is a term that is frequently used interchangeably with the term "UBO". Same thing.

Cindy

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As always, thanks so much to Cindy for the information- you are an amazing lady. :)

CG

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