What's next? Teenager going downhill.

[Kathy Bastasich]

I wrote a few months ago about my now 15 y/o son, always in excellent physical condition & excellent athlete in 3 sports. New onset HTN in 8-98 s/p EBV & strep C. EKG=RBBB, ST-T changes. Echo=LVH, tricuspid insufficiency, mild MVP. Stress test=no symptoms, but HR 208, BP pre-test 158/88, 5 min. post 148/88, right axis deviation, QRS changes, inverted T-waves upon standing. Vasotec ineffective even at triple dose. Endocrine w/u indicated elevated cathecholamine fractioning; norepinephrine at 131 (high normal 80), sexual precosity (pubic hair age 8, axillary hair age 9, shaving 1x/wk at 10, voice change overnight age 9). Renin "elevated" but don't know values. No add'l testing done for RAS. Average resting BP rarely under 150/90, paroxysmal as high as 168/128, 170/110, etc. Has severe flushing, primarily lower facial cheeks but entire upper torso w/push-ups. Has now lost 21# in 5 wks. with normal enormous appetite for typical teenage boy. 5'11, was 208# 8-23-99, 190# 9-20-99, 187# 9-28-99, now 191#. Has facial discoloration long lower edge of cheekbones which looks cyanotic, under which skin is greyish. Has dry cough (CXR indicates enlarged heart). Primary GP ordered I-123 MIBG scan done 10-14-99; told would take 1hr. 15min. if normal; took over 4 hrs. with 5 repeated studies of chest and liver; now told normal. Watched test and child lit up like a lightbulb on either side of head (looked like temples), something in neck or brain-possibly thyroid, majority of chest, liver and areas of pelvis. Realize some will enhance due to lack of bony fusion, collection areas etc. Had repeat 24 hr. urine; now told that normal also. Having MRI of brain for pituitary 10-21-99. Frustrated with slow work-up and lack of concern from current specialists who don't even let me know test results, have never contacted referring primary physician nor returned his calls, and "don't know what weight loss or facial discoloration have to do with anything." We desperately need some help. Child is so very tired now (new last 2 wks.), has excessive inappropriate perspiration x5 mo., mood swings, especially at noc. I am still concerned about pheo. Otherwise he is totally asymptomatic re:chest pain, SOB, etc., but all physicians state that is because of his excellent physical condition. Work-up for congenital adrenal hyperplasia secondary to 11-hydroxylase deficiency negative. Considering going to Mayo. GP very alarmed; has known child for 6 yrs. and is almost as worried as I am about this very rapid decline. Can you give any suggestions or insight into further testing, etc? I know you can't diagnose, but we don't know where to turn, other than Mayo-seems to need adolescent endo, etc. Physicians are not aggressive enough-this has been going on over 3 months-can't even do MRI of adrenals for another 5 wks. My son has changed before my very eyes, and continues to do so every day. HELP!

[martie]

Kathy, maybe the doctors are missing your posts. Try posting a new message at the top of the page.You are getting so close to the bottom. You must be constantly concerned about your precious son. There has got to be a way to get better results. The problem is you know what they say "too many cooks in the kitchen spoil the broth" meaning too many doctors can give too many conflicting opinions while the cause is being masked. Find someone that you really trust. Love and prayers, Martie

[Kathy]

We still have not heard from Mayo. I found out the young man I thought was a fellow was, in fact, a resident and is now off the endocrine rotation, so we won't hear from him anymore, either. None of my questions have been answered, we don't have a release for return to sports and other physical activities. A new situation arose today. My son awoke earlier than his alarm clock this morning with his first "really bad headache" in at least 5 years. He also complains of a dull ache in his shoulders which radiates down both arms. He says he feels a little queasy, but does have an appetite, no vomiting. I allowed him to stay home from school today, since we have no idea what is going on with him, and my mother is there with him. She called and asked me to come home and check his blood pressure and look at him. His BP was now 130/90 on the right (formerly the lower of the two arms) and 130/80 on the left, and his heart rate was tachy at 110 bpm. I am wondering if this is now an elevated BP for him, since at Mayo he was down around 125/45 with a heart rate brady in the 40-50's. His pupils were massively dilated, as is usually the case, no fever, plenty of periorbital edema. Of course I realize it could be the flu, but then again, it could be cardiac or whatever in the name of sense is working on him, as well. I wish he could have a 24 hr. holter monitor performed as his pulse felt as if it was speeding up, slowing down, speeding up. I took it in both wrists with the same result. Please offer any suggestions you can. I also have a few posts in the Neurology forum and we are proceeding with the tests the CCF Neuro recommended. This boy is an absolute mess and I can see every day that more and more is wrong. Thanks for anything you can add.

[Kathy]

Mayo just called me a few minutes ago (the doc doing his fellowship) and stated that the venous/arterial samples were "nothing to be concerned about," whatever that means. He also stated that even though the BP is going so very low at night, we should not reduce the Lopressor, and he is willing to return my son to full sports (basketball as a forward taking the charge to draw the foul, and varsity quarterback in football). He stated that all of these things (eyes, profuse inappropriate sweating, flushing, etc.) are "normal for him." I totally disagree. And the weight loss is not muscle mass. Any suggestions? I am at the end of my rope. Thank you!!

[Kathy]

We just returned from 12 days at Mayo Clinic. The 5-HIAA for carcinoid syndrome was elevated at 11.8 (high normal 5). The autonomic reflex testing was somewhat abnormal. Pheo still cannot be ruled out. The ophthalmological exam was entirely normal with full visual fields, etc. However, the doc thinks this situation with the pupils is normal for my son. What he is not listening to is that they are now not only very dilated and did not react properly to light, the first doc we saw at Mayo noticed that they are unequal as well, and that there is swelling above and below the eyes. No additional tests were performed regarding the eye other than the full ophtho exam. This came on for the first time exactly 3 weeks ago. Also, the MIBG from Chicago did indicate the left adrenal enhanced thrice more than the right. Abdominal CT and MRI of the brain done a few weeks ago were normal when films were reviewed. However, my concern is that, aside from the obvious, this situation with the pupils JUST STARTED. My son had two head injuries within weeks of each other 3 years ago. The second was fairly severe; he was in and out for 2 days, vomiting, confused, headache, etc. The local doc gave him a Medrol DosePak for 7 days to reduce swelling. Could there be something going on since the MRI was performed over a month ago to cause the situation with the eyes? I feel I should pursue this further. The cardiac work-up was similar to what we found out here except there is a small mitral regurgitation. Five cardiologists came in when the echo was being performed. I liked the Mayo situation but feel there are a few things being left out when info is given to me. Thanks to Martie for the lovely words. I do adore my son and a mother certainly knows when something is drastically wrong. By the way, the weight loss is now 27 lbs. yet still the normal huge appetite. Waist has gone from 36 in. to 31-3/4 (Mayo measured). The facial flushing was brushed aside as "normal" and the weight loss was brushed aside as "muscle mass loss," yet it definitely is not. My son's triceps, biceps, thighs, calves, neck, etc. are still HUGE. It's the waist and buttocks that have markedly shrunk. Angiogram was performed, no stenosis seen but delayed films, pressures and venous/arterial samples pending. BP response after procedure was extremely low; heart rate in 30's, BP running 108/28-36 for 6-7 hrs. Tilt table testing indicated low BP and brady while lying down, tendency to be tachy with high BP while upright. Any suggestions or comments? The eyes really concern me, especially after the head injuries. Thanks!

[martie]

I'm sorry I have no advice to give, but want you to know I've been reading your posts since you started  and I feel your concern for your son. I have been praying for you and him and hoping that soon you will find the answer and the treatment so desperately needed. Hope you are getting closer to your answer and know that I am thinking of you and wishing you the best.You are a very good mother. The love between a mother and her son is the strongest love on the face of this earth. Stay strong and persistant. Martie

[CCF CARDIO MD - DLB]

While waiting for the other appointments, you could try taking him to an eye doctor and see what may be going on with his pupils. If they really do not react to light, that is a serious problem that deserves confirmation and further investigation.

[Kathy]

Dear Doctor: We're now trying desperately to get into Mayo Clinic to see a specialist in endocrine hypertension, without much luck. They state they are booked till next year and I wonder if this child will last that long, considering all that's happened in two short months. Went to see local primary care physicians who freaked out when he saw my son for the 1st time since July---took him immediately out of basketball. A new development in the past week. My son's pupils are now extremely dilated, even in bright light. When his doc turned off the exam room lights for a few minutes and then examined them with the penlight, they did not react. In addition, the doc said he, too, was having a great deal of trouble hearing the blood pressure in both arms, and even tried it twice on each side. I thought it was only me. However, the pulses in my son's wrists were good and the doc said his heart sounded strong and regular. I'm having a very difficult time dealing with the fact that I know we need a multidisciplinary approach to this child's myriad of symptoms and yet no one seems willing to help us. Any other suggestions, even of research I can do about the pupils? I guarantee you the boy is not using drugs. Thanks.

[CCF CARDIO MD - DLB]

Rather than suggesting further specific tests, I think it would be best to just get another endocrinology opinion.

[Kathy]

I received an e-mail from the NIH today stating the plasma catechols and metanephrines was entirely normal, which makes pheo "unlikely." I have no idea what to do next. Can you give any suggestions for further testing to delineate what is going on with this child?

[Kathy]

Sorry, the weight loss began on 8-23-99 when he weighed 210 lbs. He is now down to 184-1/2.

[Kathy]

In trying to figure out what is wrong with my son, we have now had the following tests done: total body CT=negative, I-123 MIBG=negative, MRI of brain w/attention to pituitary & hypothalamus=negative, nuclear renal scan=negative (but non-diagnostic for RAS, I realize). Currently underway are 5-HIAA and plasma catecholamine & metanephrines at the NIH. Child now down 25# since 9-23-99 but still with normal tremendous appetite for 15 y/o. Basketball tryouts start tonight and with the sweating and additional exercise he's not used to, more weight will undoubtedly come off.  Endocrinologist and cardiologist admit they don't know what to think or do. Lopressor, 50 mg. BID not much help, low resting BP still averaging 150/90 or higher, burst to 180/96 following basketball conditioning with pulse still at 140 two hrs. after. This is absolute torture. I'm concerned about him at basketball (single mom working 10 hrs./day so can't be there to watch every move, nor do I want to embarrass him), can't sleep myself secondary to worry and the unknown. Any suggestions for tests you could shed on this? I admit, I am absolutely desperate. No one loses this kind of weight and eats like he does. I spend an enormous amount of money on good, healthy foods. There are absolutely no illicit drugs (what drug would keep the weight falling off with the appetite he has, anyways?), no steroids, etc. Please help, if you can. Thank you very much, once again.

[CCF CARDIO MD - DLB]

I have a lot of faith in the NIH, especially for unusual problems such as the one your son appears to have.

[Kathy]

I have since found a wealth of information on studies being done by Graeme Eisenhofer, PhD and Karel Pacad, MD, PhD at the National Institutes of Health in Bethesda. They are offering a free plasma metanephrine & catecholamine testing (the information is available at website http://www.angelfire.com if you're interested. Also, I now understand MIBG scanning was created in Ann Arbor, Michigan at the university there. These two institutes are supposed to be #1 in research and pioneering for pheo. I am going to have my son tested by NIH and we may go there for treatment. Anything else to add? He is starting Lopressor tonight, as after the FIRST basketball conditioning class, the BP in his left arm (usually the higher) was 150/90 and the right arm was 180/94. He was off BP meds so as not to interfere with a lot of the testing he has undergone. Also, his heart rate 1 hr. following basketball was racing at 140 bpm. This really worries me. Your suggestions are invaluable. Thanks for keeping an eye on my posts, doctor.

[CCF CARDIO MD - DLB]

It is impossible to determine exactly what the risk is for him from competitive sports. It sounds like he tolerates the vigorous level of activity fine. However, I just worry about young athletes who have an undiagnosed illness playing at that level of intensity and would not recommend it.

[CCF CARDIO MD - DLB]

I think either institution would be fine; choose whichever one is more convenient for you.

[Kathy]

Another addendum: If you can hazard this answer, how unsafe is it for him to be playing on a very aggressivem full contact (and I mean full contact) basketball team? These guys make the pros look like wimps, no kidding! We were given a prescription for Lopressor to start "in a few weeks" and told NOT to take his BP at home (we have been taking at least daily since 3-99) for 3 weeks. I just told my son on the phone that we are going back to taking the BP BID, especially after the basketball conditioning, and if it's high, he'll get on the Lopressor. I'm glad the potential for impotency is reversible; that makes me feel better and I hadn't heard that before.

[Kathy]

Thank you for your kind words. It makes me feel better to know that a qualified physician from a fine institution such as yours understands and agrees with my concerns. Our endocrinologist at Children's Memorial in Chicago, I feel, is not aggressive enough; of course, giving her the benefit of the doubt, she does not know my son other than one visit, but has not requested we see her again. I think it would be extremely beneficial if a new specialty were to come into play which dealt exclusively with adolescent medicine. Teenagers are in such a grey area between peds and adults; they hormones are rampaging, more and more diseases and unusual illnesses are emerging in teens, more female problems for girls, etc. There are no specialists in Chicago who deal with adolescent anything. Cardiology and endocrinology for the boys, in particular, could make a great difference in some of these kids' lives. We have now had 2 cardiologists and 1 endo rather "blow us off" as to the HTN and other cardiac problems being secondary to another cause. And yet it's obvious that they are, especially with this rapid weight loss. Is it safe for him to play basketball, in your opinion, based strictly on what I have told you?  This is a virtually nightmarish situation for me, as his mom. The cardiologist said if he didn't get the cardiovascular work-out, his heart could "go into shock" from lack of activity since he has been participating in stenuous athletics in baseball and basketball since age 5, and those two in addition to football since age 11, which encompasses literally 350 days a year, and now down to virtually nothing except bikeriding and golf, occasional jog over to a friend's house, and push-ups. Anyone with any information, especially the physician, please write back. I don't want him to drop dead on the floor. Also, he will be starting on Lopressor now since the Vasotec was ineffective. What about this drug? I have read the possible side effects and am not impressed with this medication. An ACE inhibitor seems better, with, I understand, less risks of future problems with impotence. He probably also needs an ultrasound or IVP, etc. to rule out renal artery stenosis. If anything comes up, either from your physicians or others who might read this and have ideas and/or suggestions, please post them. I will check back as often as possible. Thanks again.

[CCF CARDIO MD - DLB]

In a young person with unexplained hypertension, I would agree with a renal ultrasound to rule out renal artery stenosis.

Beta blockers can cause impotence, but not through any permanent damaging effect. Thus, if beta blockers do cause impotence in a particular man, this is completely reversible with discontinuation of the medication.

It is hard for me to be enthusiastic about him participating in competitive sports, since he appears to be ill, but without a specific diagnosis.

Hopefully, one of the doctors checked for illicit drug use, including steroids.

[Kathy]

Thanks again. There is no chance of illicit drug use or steroids, including creatine. He is extremely anti-drug as his estranged father has a huge drug problem. In fact, he ran away from visitation with dad to remove himself from the drug situation and marijuana smoke in case he was tested at school. He is not bulked up like steroid users and is also against that. He has not been on an antihypertensive since taken off Vasotec 3 weeks ago and I am very uncomfortable with the idea of basketball, as well, since he also plays forward, taking the charge to draw the foul, and spends alot of time on the floor, having been slammed in the chest, let alone all the running, but the cardiologist said he needs the cardiovascular work-out so his heart won't "go into shock from lack of exercise." He has been playing competitive sports since age 5, but was taken out of football and basketball due to the cardiac condition and lack of complete diagnosis. I fail to understand why it is suddenly safe for him to play now. I think Mayo might get the call pretty soon-or should we come to Cleveland Clinic?

[CCF CARDIO MD - DLB]

It seems that the cardiac problems are secondary to some underlying metabolic disturbance. I think an expert endocrinology  opinion is what you should seek.

[Kathy]

Addendum: also frequently tachy at 100-150 bpm. Serum glucose normal, as well as complete chem profile, metabolic work-up, thyroid profile, etc. Cardiologist has released him to high school basketball telling him no long distance running and no weight training. That won't happen in high school!! Players are required to run around the outdoor track 3-4x without stopping, which I explained to no avail. Left ventricle more than double the right. Hope this helps.

[CCF CARDIO MD - DLB]

He sounds like he is not doing well and I share your concern. I have no thoughts other than the diagnoses and future tests you have already mentioned. I agree that a work-up by a pediatric endocrinologist at a referral hospital would be the next best step that you take.