elevated cpk, aldolase, alt, ast

[candl522]

My 13 yr old started complaining of leg pain in 08/07, I put it off to starting gym in school, then to not liking gym.  0707 as it continued, I put it off to not wanting to take the garbage out in the snow.  In late 11/07 he had an episode of extreme pain in his sternum area that was short lived, and said he was feeling better.  Apparently he wasn't, he told he was so I wouldn't worry, as in 3/08 we took him to urgent care with the same problem.  The xrayed his chest and electrocardiogram.  They said he fine, probably just chest wall pain, maybe from growing.  Pains came and went until 5/5/08, when he woke up and starting falling when he tried to stand or walk.  Took to dr again.  Tested CPK, AST, ALT through blood.  CPK was over 12,000 (not a typo) AST and ALT were both in the high 300's.  Dr. said probably viral as no recent injurys.  Took him back 5/9 as he still hurt, not falling though, and they retested blood and this time urine.  CPK was down to about 1,700 and the AST and ALT with urine showed decrease enzymes there as well.  Dr recommended a MD/Rhuematiod specialist.  5/13 she retested all the above with aldolase too.  All levels were up-CPK 5700 AST and ALT over 240 and elevated aldolase, I dont know how much.  Did MRI on legs 5/21 and new tests.  MRI show some fatty deposits, but not to abnormal level, no muscle inflamation (inflammation) or atrophy or anything unusual.  Tests were still elevated, but slightly lower cpk, and ast/alt down to the 114 range, and elevated aldolase.  Echocardiogram shows-according to tech-nothing much.  Muscle biopsy done yesterday-no result.  Also waiting for results from a glycogen deficiency test.  Also, waiting to see a neurologist.  Everyone seems duped by this, any ideas.

[Jules547]

I am going thru the exact same thing w/ 5 year old son.  We have gotten biopsy results and just received the MRI report of legs two days ago.  Biopsy showed mild muscle neuropathy, but no fatty tisse replacement, however MRI of quads showed fatty tissue in his back side.  He has been tested for duschenne''s MD and it came back negative, however 30% chance he may still have it.  We have been going thru this process for a year now, have seen 2 Neurologists, and still do not have a definitive diagnosis.  One Dr. speculates a metabolic disorder while the other thinks it is a form of MD.  Currently awaiting more results from additional biopsy staining, and genetic sequencing.  I have grown quite frustrated w/ our level of care( and we are at one of the top 3 Children's Hospitals in the country)  At this point, we have decided to take him to hospital that is top in pediatric Neurology.  We should definetly keep in touch.  Hopefully, we can figure this out soon and help our kids!!!

Take Care,

Julie(jules547)

[candl522]

As I know what you are going through, my thoughts and prayers are with you.  We don't have the results of the biopsy yet....We is so disturbing to me is the dr's do not seem to want to tell you anything.  When I find something online, or someone mentions something and I ask about it, I feel totally disregarded.  I asked about Pompe's and some weird toxicity (due to exposure of certain pesticides like they spray at school) and everyone said ''Oh, no, couldn't be that''.  Without any liver or kidney swelling, they will not check for anything out of the norm like certain glycogen deficiency issues.  I would love to keep in touch as it is hard for those around us to understand.....Thanks for your response.

[barbie13607]

Sounds like Polymyositis or other related autoimmune condition.  Is loss of strength Proximal?    check out -  http://rheumatology.oxfordjournals.org/cgi/content/full/39/1/7

[needhonesthelp]

I know this doesn't help, but I just want to say I sincerely wish the best for your child.  I personally have been going through a very tough time and worry a lot about what is going on.  Is it benign or a disease process?  This becomes very stressful.  I have 2 young children and can only imagine how hard it would be to see one of them go through something so difficult.  I'm glad it is me rather than them...

I'm sure this is a troubling time and just keep the course.  I believe your biopsy results will be very telling.  I hope they will be negative.  Keep in mind there are many less serious things out there that may be very mangeable.  Please keep us posted on those results.  I'm hoping for the best for your 13 year old.

God bless,

[candl522]

Negative for polymyositis.  No real loss of strength, just a feeling of muscle fatigue, tingling, etc.

[candl522]

Thank you.  No results yet on the biopsy, but did get the results of the last blood test--think for McArdle's--lactate is 5.6, normal high is 2.4.....and an appt on the 18th.  I can't tell you all how much this site is helping me keep my sanity.  Thank you for your caring and responses and I will keep this updated.

[barbie13607]

I thought you might want to look at this site which has some great information on nutrition.  I sent the Muscular Dystrophy page:

http://www.doctoryourself.com/dystrophy.html  

Even if your child's condition is not known, nutritional supplements would help.  I believe nutritional supplements are VERY important.  Even if your child is getting a good diet, the desease process may preclude getting the nutrition into the blood stream.  And the Average Daily Requirement - that's for a healthy individual.  It certainly wouldn't hurt to give it a try.   Wishing you the best...  

[candl522]

Yes, we have found that if he takes bromelien-I know I am not spelling this right- and tumeric, it seems to help with the pain and weird tingling he gets.  We are carefully watching his carb intake, and have switched to a chewable, whole food, organic vitamin, increased vegies, monitor fruits (for the carbs), etc.  His test results are still very high, but he says he is feeling OK some days, especially when he doesn't over do it and stays very hydrated.  Very strange, but appetite has decreased, sometimes only eats a little breakfast and small dinner, but weight hasn't been affected, dr says ???

[rjlII]

Wow, I can't believe your story.  I have a similar situation with my son.  His problems started at age 12, with severe leg pain after playing competitive basketball for hours.  He also had breathing issues, and fainted 3 times in a the first 6 months of this.  Everything checked out normal....chest ekg, emg's x-rays, etc.  Then ovver the next year, the recovery time from the pain lengthened.  Then the pain began to move up into his lower back, and up through his middle back and neck.  By the age of 15, he was in complete body pain all of the time.  Have been to UM, Cleveland CLinic, over 50 doctors.  Have had negative muscle biopsy, whole body and brain scanned and MRI'd....nothing.  Doctors had thought it was a muscle enzyme disease or autoimmune disease.  
Other symptoms include hand tremors, occasional severe headaches, temporary loss of peripheral vision for 5-10 minutes, lack of ability to sleep at night because of the pain, SEVERE fatigue, memory loss, difficulty concentrating, etc.  Ruled out everything MD, lupus, etc.  Have a Dr. now from Henry Ford that thinks it might be polymositis or mitochondrial disease.  STRENGTH appears to be normal.  HAVE gone down the lyme disease path for 6 months, as several lyme doctors say he has it.  Tests don't reveal that though.  3 months on different lyme medications caused him to lose 15 lbs.  After he works out or does any exercise, his pain level goes from a 7 to a 9.  

My son is a 6'3" 200 lb tough kid that is fighting through this, probably like your son.  What other tests have you tried?  Good luck.  I am hoping I can get some responses like you have!

thanks
RJL  

The latest tests this week showed alsolase at 13 and cpk at 515.

HOwever, at age 15, his CPK levels were about 500.  NOT as high as your son's.   between his playing