Myriad of problems with formerly healthy, athletic teen

[Kathy]

My now 15 y/o son, about whom I have posted in the heart forum, has suffered a marked deterioration in his usual perfect athletic health. We first noted HTN in 8-98 during an EBV, strep C infection. A good resting BP would be @150/90+ with paroxysmal bursts as high as 186/128, 170/110, etc. Cardiac testing in 8-99 indicated LVH, rt. atrial enlargement. EKG=RBBB, LVH. Stress test=inverted T-waves upon standing, etc. A 24 hr. urine for catechols elevated at 131 (high normal 80) 5 days following "attack." Renin elevated at 10.3 (high normal 3). Endocrine w/u  9-99 revealed sexual precosity (full puberty age 8). Thyroid tests, tests for 11-hydroxylase deficiency, etc., apparently normal. Has hair distribution, sexual development of 28-30 y/o man. Had MIBG scan for extra-adrenal pheo; left adrenal enhanced thrice more than right but no tumor seen. 5-HIAA for carcinoid syndrome (high normal 5) was 4 on 11-1-99; 3 wks. later elevated at 11.8. Spent 12 days at Mayo; autonomic reflex testing "somewhat" abnormal. Past 3 weeks, pupils are always dilated, frequently fixed and often non-reactive to light; past 1 week they are different sizes. Attending physician at Mayo freaked when he first saw it but ophthalmological exam normal so they decided this was "normal" for him. He also has attacks of anger over things that would never have bothered him before. MRI of brain supposedly normal 10-21-99. Oddly enough, on tilt table testing, we found his BP is now very low (124/45)and heart rate is brady when lying down, but upright it reverts to HTN and he is often tachy again, as before. Renal angiogram with venous sampling was done; supposedly normal, although he does have newly discovered bilat abdominal bruits which they are saying are "normal" for him. He has lost 27# since late 8-99, yet eats like a horse. CT scan of chest, abdomen, pelvis supposedly normal also. (All scans were performed in Chicago.) Since 8-99, he has developed profuse inappropriate sweating, whether in airconditioning or outside in cold weather. Also, since age 8 when he had the rapid puberty (pubic hair, etc.) he has developed a bright red flushing of the lower half of his facial cheeks. In addition, in past 1-1/2 wks., he had periorbital edema. He started on Lopressor, 50 mg. BID on 10-25-99. I want to reduce the nighttime dosage to 25 mg. as his BP and HR are going so low, but Mayo says no, local docs who have cared for him 6 yrs. say yes. They agree with me that NONE OF THIS IS NORMAL FOR HIM. They are very concerned; I am beside myself. The child goes downhill every day; how can any of this be "normal?" I am very concerned about the eyes; many things could have happened between the time of the MRI and the ophthalmologic exam. Anisocoria has many causes, I realize, including increased intra-cranial pressure. Why is everything dismissed as normal when none of it ever happened prior to August of 1999? Child is a top athlete in 3 sports; Mayo is going to fax a release for him to return to varsity football (starting quarterback) and basketball (forward taking charges to draw fouls). Do you have any suggestions for me, please? I know my son, I have worked in medicine for 18 years, and myself, along with his local physicians, know darned good and well that none of this is normal for this wonderful young man. I would be eternally grateful if you could shed some light on this situation. It is destroying our lives, and he is changing before my very eyes; his pants fall off without a belt (waist went from 36 to 31-3/4 in. in 6 wks. and weight still dropping. Thank you so much.

[CCF Neuro[P] MD, RPS]

Dear Kathy:

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.

Sincerely,

CCF Neuro MD

[Kathy]

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!!

[CCF Neuro[P] MD, RPS]

Dear Kathy:

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

[Kathy]

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!

[Kev]

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.

[CCF Neuro[P] MD, RPS]

Dear Kev:

Thanks for the help.

CCF Neuro MD

[Kev]

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...

Kev

[Kathy]

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!

[Kathy]

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!!

[Kev]

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 ....

[Kathy]

Thanks, Kev. I really appreciate your help!

[CCF Neuro[P] MD, RPS]

Dear Kathy:

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.

Sincerely,

CCF Neuro MD

[Kathy]

Thanks for another suggestion; I'll take anything you have to throw out. I am so impressed with the concern you are showing for us. I STILL haven't heard from Mayo. By the way, the Chief of the Dept. of Radiation Oncology here at the hospital in which I am employed looked at my son's 10 page H&P, then had me dig out the dictated report of the MRI of his brain. I found it late last night (I have basically forgotten what that wonderful thing called sleep is, anway), and it does state that the pituitary is "at the upper limits for size." What I find odd about the report, and maybe I'm wrong, is that the orders were for, and the report states, an MRI of the brain with attention to the pituitary and hypothalamus. However, there is no mention of any other portion of the brain than the pituitary gland. No mention whatsoever of anything to do with the hypothalamus, or any other portions. And after Mayo found that Children's Memorial had "misinterpreted" (their words) the MIBG scan (left adrenal did enhance twice that of the right), I just wonder. So, the radiation oncologist suggests a repeat MRI of the brain, especially since so much has happened in the past 3 months.

I find so little information on the anisocoria and basic non-reaction of the pupils. That really freaks me out, so to speak, to look at his eyes, in light or dark, next to my own face, when mine are pinpoint, and his are HUGE. Also, I am not quite sure just what needs to be ordered for a paraneoplastic work-up. We did send the urine for amino acids to Johns Hopkins this past Monday. I have to get the orders from our local GP, so please, when you see this, do I just request paraneoplastic work-up (plasma?) with testis-limbic system antibody? We will have it drawn here at the hospital, so will the lab know what to draw for certain? This is Indiana, after all......I probably shouldn't say that-HA!

Thanks again for all your help, and keep up the good work. I wish I could meet all of you who have been so helpful, considerate and obviously are researching to help me. I could kiss you! I'll let you know everything that goes on. I'm desperate.

[Kathy]

Just so I don't sound stupid (I am SO tired), I guess you did give me the tests that need to be requested for the paraneoplastic work-up already-DUH.

The tests I have down that need to be done for this panel include: serum and urine free acylcarnitine, serum and urine organic acids, and serum amino acids (urine amino went to JH), including the testis-limbic system antibody. Is this correct? What tests would be appropriate for Fabry's?

Thanks again....I owe you.

[Kev]

Regarding your Mayo records...Here's the contact:

Bernie Nienow
Patient Relations Representative
Neurology Dept.
Mayo Desk 8
[phone]

Hope this helps...

[Kathy]

Thanks, Kev. I still haven't heard from the doc at Mayo--three weeks today since my son had the renal angiography, etc. I will try to contact the woman you mentioned. I have also been researching the Natl. Dysautonomia Research Foundation's website, and this CCF neuro is certainly on the mark about my son having dysautonomia; he was already tested for some things--I saw and watched the testing (abnormal), but will anyone call me back? NO. So now I do need his records because we have to start all over again. The neuro who has answered my posts has given us some excellent ideas. I appreciate your help.

[Kathy]

Dear friend neurologist: I finally had contact with the secretary of the attending at Mayo. He told her to tell me they want us back at Mayo on Jan 4th, to see him (he said to relate he is "very concerned" about my son), and then later in the day, we will also see a nephrologist. I am going to insist on a repeat MRI of the brain, and may request Mayo perform the additional panels you requested. At least it's a start. I am going to take a copy of all our posts here in the forum, and go over them with him (I am thorough, too). If you come up with anything else, please keep adding it to the forum for me. I really appreciate your help, and you're right about the dysautonomia!! Something is causing his nervous system to go haywire. He has now, within the past 3 days, completely stopped persiring, as well. The pupils are still massively dilated, etc., and the weight loss continues.

I can't thank you enough for the concern, let alone the time you are spending researching this for me. You are a wonderful person and deserve a huge, so take one over the net, okay? Thanks so much---I still owe you!!

I'll let you know what happens at Mayo, but I will continue to research everything I can get my hands on.

[Kev]

Dr. Philip Low is top dog I believe for Autonomic Disorders at Mayo in Rochester .I had the tilt table test, urine tests that would show abnormalities in norendephrines, etc.Thermosweat test but nothing was conclusive...Hope your son has better luck.

[Kathy]

Kev:  I'm copying all this info to take with me; thanks for the lead on Dr. Low. My son had tilt table testing, which I could certainly see was abnormal, and he had the thermosweat test, but I don't have a result on that one. All I could see was that the green line indicator, whatever it was for, went sky high in an arc about 6 times that of the other lines, which also went up. Appreciate the good thoughts and I hope you are doing alright yourself. Thanks for all your help and have a blessed holiday season.

[CCF Neuro[P] MD, RPS]

Dear Kathy:

Let us know how things turn out.  The Mayo Clinic is a wonderful place as I spent time there as a medical student.  But like any place it is run by humans and we are all full of human qualities and are prone to mistakes and oversights.  Any complicated workup is difficult and some things are just not thought about.  That is why most of us like to talk to one another about what we think might be going on.  I promise to keep thinking.  Know that as I go to sleep at night, I am praying for your boy.  

Sincerely,

CCF Neuro MD

[Kathy]

Dear CCF Neuro:  Your concern for my son and I is absolutely phenomenal, and I can't tell you how much it means to me. Of interest, Jonathan is now down 33#, which means he has lost another 8-9# just since we returned from Mayo exactly 3 weeks ago. I am returning there armed with a wealth of information, some of which you provided, and I am going to request, and hopefully not have to insist, that a repeat MRI of the brain be performed, as well as the paraneoplastic work-up with the testis-limbic system antibody, a 24 hr. holter monitor to look for arrhythmias, as well as monitor that BP and HR properly (should have been done already, I suppose). I think it's interesting that we're being referred to nephrology; I'm not sure why, but at this point, I'll take anything we can get! I also would like Jonathan to see a neurologist (wish it were you!!) We should have the urine animo acids back any day from Johns Hopkins, also. I can't thank you again for all the help you have provided, when you don't even know us. You truly are a Godsend, and the type of physician they were all meant to be. You have a wonderful heart. Wish I could meet you some day.

Thanks for keeping us in your prayers, and please continue to give me anything you can. God Bless!

[CCF Neuro[P] MD, RPS]

Dear Kathy:

Don't forget to have your son tested for Fabry's disease.  It is a real outside chance but you might as well.  They will know what to do at the Mayo Clinic, but make sure (I guess I am always apprehensive about getting things done right) they do the CTH level in the urine sediment, plasma, and cultured fibroblasts.  My Christmas wish is for the etiology of your son's illness to be found.  I know that Christmas is something difficult when a family member is ill.  But the season is the heartfelt thankfulness of what was done for us not what we have.  Try and feel the heartfelt gift and then hug your son, for he is alive and yours.  Merry Christmas.

CCF Neuro MD

[Kathy ([email protected])]

Dear Doctor RPS:

Thanks for the note; I will gladly follow your advice.

If I may ask, do you feel that my son's condition is actually neurological? I have still been under the impression, maybe incorrectly, that it's neuroendocrine and cardiac related, per se (at least most likely). The reason I'm asking is that when Jonathan's problems all started, everything appeared to be cardiac related; therefore, I had posted in the Heart Forum. Since he does have heart damage, hypertension/hypotension, tachy/brady, the periorbital edema which could be related to renal hypertension, I had posted a few since we came from Mayo, and one of the docs requested I post a complete H&P on him so he could review what I now know. However, other readers have made a few "negative" comments about my posts, which were at this doc's request (he is on vacation right now and will answer after his return). I was trying to cover all the bases, and noticed that some of my posts have actually been deleted.

Am I doing something wrong? One reader told me that my son's condition is obviously neurological and I shouldn't post anything else in the Heart Forum, so I won't. I didn't intend to offend anyone, I am just concerned about Jonathan's heart, as well, especially since there are conflicting reports from all the docs at Mayo about his return to athletics.

Please let me know if you feel I have overstepped my bounds; it certainly was not my intention.

Thanks again for all your kind and considerate help.  I truly appreciate everything you have done.

[CCF Neuro[P] MD, RPS]

Dear Kathy:

Merry Christmas.  I promised myself that I would avoid the help line and just spend Christmas as it was meant to be.  But, as usual I decided to take a look at the postings to see if there was some sort of emergency.  Yours is not an emergency, but my heartfelt concern sort-of over-rided the mind (heart-mind interaction that all males have).  First, yes it might be strictly cardiac and/or endocrine but I don't think it is.  My feeling is that it is a system problem and likely involves the central nervous system.  Second, I would ignore the other postings who think your doing something out of the ordinary or not in keeping with the forum.  You should read some of the postings that have no relation to the cited illness.  Third, being sort of a neurologist/metabolic/genetic person, I think the broad spectrum of what your son has strongly suggests what I have posted to you.  Of course I may be off-base, but it needs to be addressed.  Wide swings of the autonomic nervous system usually suggests a systemic illness and not a single organ system illness.  If the blood pressure was the main issue driving the symptoms, one should see extremely high blood pressure with periods of near normal ones, no hypotension.  

So, don't feel like you have done a wrong by posting.

Sincerely,

CCF Neuro MD