Wow, sounds like a roller-coaster ride with your heart and emotions on the downside of happy. I am sorry that your son is going through this. Full puberty at 8 is alittle accelerated and did this fact not prompt his pediatrician into an endocrine workup? Anyway, the high resolution MRI of the hypothalmus was normal? The paraneoplastic workup was also negative? What metabolic workup has been performed? Was there any abnormality of urine or serum amino acids or organic acids? Any muscle weakness in all his symptoms? I am not sure what would drive such a sympathetic response without a hypothalmic lesion, paraneoplastic tumor, primative neuroendocrine tumor, or quarky mitochondrial disorder. Sounds like things have been thorough. If they haven't checked for a possible paraneoplastic disorder I would run the panel, including the testis-limbic system antibody. We have seen some patients with a mitochondrial disorder present with some of the symptoms you indicate your son has, but certainly not all. It might be worth running a few metabolic labs such as urine and serum organic acids and amino acids. I would send the urine organic acids to Dr. Richard Kelly at Kennedy-Krieger Institute at Johns Hopkins.
Sorry, that I was not able to add much.
CCF Neuro MD
Thank you for the quick response. Nothing was done at 8 yrs. old because I started my menses at 9, and he had no other symptoms of absolutely anything (he sees a GP). I know full chem profile, lipids, thyroid function, liver/kidney were done as well as renin, aldosterone, deoxycorticosterine, desoxycortisol, cortisol and the 24 hr. urine for catechols, a plasma free for catechols, VMA; I know Mayo repeated most of these but have no idea what else they ordered (they did not make me privy). MRI of brain w/attentuation to pituitary/hypothalamus was normal in Chicago unless Mayo picked up something they didn't mention. What is required in the metabolic work-up and I can find out what was done? And how do I get the samples to Dr. Kelly at Johns Hopkins? I honestly don't care where we have to go, to the moon or Mars, to get my child well, or at least get some answers so that I can make rational and educated decisions about his care. God bless you!!
Sounds like the metabolic workup did not include a paraneoplastic evaluation. I think it would not hurt to include this. It also sounds like they did not do a mitochondrial workup, which is likely not going on, but at this point it wouldn't hurt. I would get serum and urine free and acylcarnitine, organic acids and amino acids as a baseline beginning. You can have your physician call Kennedy-Krieger and get the proper forms. This is the important thing, I would only send the urine organic acid analysis to Dr. Kelly at Kennedy-Krieger.
Females usually start developing sexually before males (so what else do females do first and better before males), and 8 years old for a male is very unusual. We often see females starting this young, but it is highly unusual in males. Do you know his bone age at the time of puberty? However, at this point, it is an nonentity.
Increased intracranial pressure is usually manifested by papilledoma which the opthalmogolist or neurologist can pick up easily. Also, he would have neurological signs of nausea and vomiting with his headache, together with blurry vision.
Sorry, I am not much of a help.
CCF Neuro MD
Which Mayo clinic was it? I ask because I was at the one in Rochester, Minnesota (I'm from Canada),and was on the 8th floor Neurology...If that's where you went I can give you some advice on getting records quickly ( worked for me...) and a contact.
Thanks for the help.
CCF Neuro MD
Your welcome, CCF. Anyway,Kathy, if it was in Rochester there is a women named "Bernie"(I don't remember her last name)but she is the patients rights/relations administrator for Neurology. Just call the clinic and ask to speak to her on 8th floor Neuro and she will help get your records.....She really helped me get my records quick...It's just my opinion, but Mayo is WAY overrated I believe...based on my experience there...
Thank you so much for the valuable info; I'll get on it right away. Our doc is good about giving me scripts or orders for whatever I come up with which might be beneficial for Jonathan because our docs are lost, too, and they care so much about my son. There was no paraneoplastic testing performed. There is no muscle weakness; the boy is strong as a horse, does 200+ push-ups and 50+ sit-ups nightly to retain muscle and tone. He looks really "buff," as the kids say, but now his appetite is decreasing, also, which could be attributed to a bit of "pseudo depression" over the lack of diagnosis and the loss of so much of his active life, in addition to having lost 27#. One thing I did forget to mention is that, also within the past 3-4 months, the palms of his hands and the soles of his feet are a very definite orange color. Trust me, my son does not eat orange and yellow vegetables, either. The underside of his tongue is of normal color. Mayo termed this "normal" for him, as well. I am sure you can understand my frustration at their decision to term the marked flushing (he is either quite flushed, awake or asleep, or a very unhealthy greyish color in the face, take your pick), and the new onset of the inappropriate profuse perspiration, the pupillary anisocoria, the abdominal bruits, the extremely low BP and HR when supine and the periorbital edema as "normal" for him. How can any of these problems be normal when they develop in less then 3 months, in addition to the weight loss? That just slays me. Why not decrease the evening Lopressor to 25 mg. vs. 50? They say no. And they blew off the 5-HIAA elevation (normal 4 to 11.8 in 3 weeks) as "probably dietary" and yet under my close supervision, he had nothing containing seratonin for 3 days prior to the test! I realize there may well be something coming on him which has been caught too early to clearly delineate; however, calling this "normal" is infuriating to a single mother, especially one who has medical knowledge. When I put my hands or feet next to his, the difference is color is absolutely striking. Also, in regards to your question about bone age, a clear answer I do not have; however, in 3-99 at a visit for a shoulder injury for baseball, in addition to a scan he had in Chicago in 10-99, we did see that he continues to have bony epiphysis and that his bones have not totally fused, especially in the shoulders and feet. One reason given for this is that the bones supposedly have a harder time forming "closure" over the large muscle mass my child has. He is 5'11 (no growth spurt for 2 years now) and is very muscular as he was into weight training, and the 3 sports. I would like to know the definition Mayo has of the "somewhat abnormal" autonomic reflex testing, as well, but since they don't know me per se, I am not privy to all the medical terminology, which puts me at a disadvantage until I can get copies of actual records and test results. They were not even going to mention the elevation of 7.4 points in the 5-HIAA (I read it myself on his chart!--I am persistent, but this is my child.) Please add anything you can think of and we will pursue. I don't care if I have to go to the ends of the earth for this boy. I already lost a 3 year old before this one was born (massive meconium aspiration at birth resulting in CP, but an absolutely beautiful child), and I won't let this rest. Also, Jonathan did have pyloric repair x2 by age 11 weeks. And what is to say that nothing could develop from the time he had the MRI over a month ago, until the current time? My point of view (and I could, of course, be wrong) is that when all of this, and I mean ALL of it, has come on him within 3 months, why couldn't something, possibly neuro, manifest in one month? Our track record isn't too good here, you know, for things happening in a very rapid succession of decline. He does have cafe-au-laits, the first of which came on him at 8 mo. of age, on the right bicep, the size of a dime (now the size of a baseball). He has axillary freckling and did have more cafe-au-laits in the groin (of course I am no longer allowed to examine that area, as an aside, both endocrinologists have been very impressed by the "size of the family jewels.") No lisch nodes were seen, either, no family history of anything remotely related to any of Jonathan's situation. I certainly want to thank you for your interest. You have been very helpful and just the knowledge that you have taken an interest in my son, in addition to your very kind and understanding words, certainly does you a tremendous credit, as a physician as well as a human being. Woman may do many things first (of course), but you sound like a really great and kind-hearted guy. Where were the men like you when I was 18 instead of 39?? Thanks again, and if you will, keep me posted on anything you can think of, because we'll gladly have it done. Bye!
My son was at Mayo in Rochester. We bounced around from floor to floor, building to building. I appreciate any assistance you can give to me. To date, I have not heard from the attending, who was out of town the last 4 days of our stay; only the fellow working with him. If Mayo is underrated, and I'm not saying it isn't, where does one go for the "team approach" to medicine? My son obviously needs a group of physicians who will work together. His problems are obviously endocrine, cardiac, possibly neuro, etc. I spoke over the weekend with the first cardiologist to perform a test on him back in August of 99 (the EKG and echo), informed him of what has transpired since then, and needless to say, he was in shock!! He stated that periorbital edema and the anisocoria (dilated, unreactive, unequal pupils) still sounded renal to him. I would like a final report of the "wrap up" at Mayo, in addition to the records. Please let me know who to contact, and CCF Neuro, if you have anything to add, or any suggestions of where we can go to find out what is wrong with this child, please advise. Thanks, everyone!
I guess this didn't post the first time.....My son was seen in Rochester (we live in Indiana.) One disadvantage was that our attending (endocrine) was away the last 4 days of our visit due to Thanksgiving, so we were "followed-up" by his fellow, who I liked, but didn't feel was truly qualified as of yet to rule out so many things as "normal" for my son. Jonathan obviously has endocrine problems, and other than Mayo, which could very well be overrated, where does one go for the multidisciplinary team approach of physicians? My son obviously needs an endocrinologist, a cardiologist, possibly a neurologist, etc. Mayo's radiologists found discrepancies on the MIBG from what we had been told in Chicago. I don't understand why the attending has not returned my phone calls for a "wrap up" of my son's stay in Rochester. It was lengthy, and as I stated, Jonathan has a myriad of unusual things going on, including the orange palms and soles of feet (don't know if I mentioned that before). Please let me know how to obtain copies of ALL of the records from Mayo at your earliest convenience. And CCF Neuro, if you have anything else to add, any suggestions on where to go, or what to do with this child (he is now losing his appetite, as well), please let me know. I will continue to pursue the suggestions you made previously. Thanks to you both, and keep in touch with me, please. It's nice to know SOMEONE listens!!
Kathy, I answered the question above...Each floor and building at Mayo as you know has different special areas and divisions.Your son was seen by a neurologist which would be on the 8th floor...( I can't remember the building)..doesn't matter...Autonomic specialists are there...I saw a real piece of work named Dr. Fealey who is an Autonomic Neuro ( not much of one ..)Mayo's "team " approach consists of feeding patient info into a central computer database...and pulling up the file as needed..Anyway, call the main Mayo switchboard, ask for 8th floor Neurology and which building is it ( if you don't remember,maybe Guegenheim,I think ). Ask to speak to "Bernie", the patient rights administrator for neurology there...Explain your situation and SHE will get moving on your records for you...Guaranteed!Your records are in the computer, all of them...they just need someone to kick them in the ....
Thanks, Kev. I really appreciate your help!
Again, I am sorry that I'm not much help. I was thinking about your son again last night and something came to mind. Did they look for Fabry's disease? This is an X-linked condition that a defeciency in an enzyme alpha-galactosidase can cause a multitude of problems, especially with dysautomonia like your son. Usually, strength and mental function are not too affected. Just another thought. I will keep thinking and please keep me informated about the paraneoplastic work-up.
CCF Neuro MD