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.

[Kathy to Dr. RPS-Mayo amino acid results]

Hi...I don't know if you will see this but I finally have the info you requested on these tests. I will list the abnormalities for sake of space with normal reference ranges in parentheses. The amino acid I panel indicates a-amino-n-butyric is 33 (4-31), cystine is 47 (5-45), pyruvic acid(b) 0.07 (0.08-0.16). However, urine amino acids II is awful: taurine 1847 (35-260), threonine 183 (25-100), serine 349 (93-210), asparagine 99 (15-40), gluatamine 647 (150-400), glycine 1547 (185-855, alanine 425 (65-190), valine 93 (17-37), cystine 63 (11-53), cystathionine 14 (2-7), methionine 48 (7-20), isoleucine 48 (3-15), tyrosine 160 (30-83), phenylalanine 84 (20-61), b-aminoisobutyric 11 (25-96), ornithine 19 (3-16), lysine 191 (19-140), 1-methylhistidine 2711 (41-300), histidine 899 (46-725), 3-methylhistidine 384 (42-135). This would make the alanine/lysine ratio 2.225 if I understood you correctly? What does that mean?

The interpretation of this report states "we detect a pattern of amino aciduria. This finding is indicative of either a renal tubulopathy or acute liver dysfunction. Clinical correlation necessary." Also, alk phos was 257 (299-1110) and AST (GOT) was 15 (16-36).

Mayo has recommended against further investigation. Jonathan's status is not improving. If you see this and have any suggestions for me, I would appreciate any information. The doctors here don't know what to do (this was supposed to be the mitochondrial testing, I believe).

In addition, his renal angiogram report states that "there is incidental note of a replaced right hepatic artery." Since Jonathan does not have a replaced right hepatic artery, could they mean displaced? Could this explain the huge abdominal bruit for which there is no explanation?

Thanks and I won't write any more unless you ask me to provide further details. It took me all this time to obtain the information you requested. I am really worried about these results.

Thanks again for all of your help. It has been truly appreciated.

[to thought i'd ask]

No, I didn't mean the word Martie said. She wasn't referring to the boy. She was referring to someone who was making nasty comments. That is obvious and easily understood. I was talking about your remark that maybe Jonathan deserves a free trip to Cleveland Clinic because of his mother. That's insulting.

CJ is right. To all of us who support this mom, and to mom herself---from now on, let these stinking, cold, dead fish who trash this mother rot. It's what they deserve and a person reaps what he or she sows.

To mom--know we support you and Jonathan. We hope and pray everything will turn out okay and that someone can find the answers. Good luck to you. Now forget about the rotten, smelly fish and keep researching for the information you need, like you have been all alone. I do hope the doc can see what these people have done. I feel horrible for you. And so do many others.

God bless you both, mother and son!!

[C J]

I think it was Shakespeare.  From "The Tempest"... "Misery acquaints a man with strange bedfellows."  We supporters and sympathizers can only say, "This one is the worst."

I say to all dedicated supporters... that in taking revenge on this (these) idiot(s), we become equal.  If we ignore the idiot, we are far more superior.

There's this old English proverb that keeps attacking my mind.  It goes like this:  "Vengence is a dish that should be eaten cold."  So, to all supporters and sympathizers, I beg for a return to warm dedication and let this cold fish rot in the sun. - C J

[to though I'd ask, from a generic reader]

I don't believe anyone made lousy comments about sick kid, much less a kid.  Are you refering to the name Martie was using?  I know she kept using a word that I can't even bring myself to say.

[to though I'd ask, from a generic reader]

I don't believe anyone made lousy comments about a a kid, much less a kid.  Are you refering to the name Martie was using?  I know she kept using a word that I can't even bring myself to say.

[to thought i'd ask]

It takes a big person to now make lousy comments about a sick kid. How can you live with yourself and insult this child.