Undiagnosed Illness in 4 yr old

My 4 yr old son presented with  blood in his stool at 2 1/2 yrs. Otherwise healthy, active (asthmatic)male.  The blood ranges from 1/4 tsp to 1 tbsp and is the consistency and color of menstrual blood (clotty, dark red) this went on daily for 1 yr and now has it only sporadically. He also began getting severe leg pain at that time and has had a variety of rashes including one that was typical of HSP, mostly he gets hives though.  He also gets very dark circles under his eyes and becomes pale and also bruises very easily. He just this month began getting pain in his hands as well and keeps them in clenched fists as he tells us this makes them feel better. However he is able to open them as he does at times for activities but while sitting and even sleeping they are clenched. He has seen Rheumotologists, gastroenterologists, and diagnostic doctors including the Mayo Clinic, yet no one is able to pinpoint. We do know that all the above symptoms come in "bouts" and last 1-2 wks and occur about every 4-6 wks and allthe symptoms come together. He also has pressure sensitive skin, so that the slightest touch leave a long-lasting bright red mark. The following has been ruled out, lupus, arthritis, colitis, HSP, lymphoid hyperplasia, lymes, carcinoid, celliacs and some others. He has had a meckles scan, 2 colonoscopies, a cat scan, x-rays and countless blood work to no avail. I do not want to put him through anymore unnecessary testing he is only 4.  At the same time it pains me to see my child in pain and not have any answers. Our doctors have truly tried but they feel it may be some rare disorder they haven't stumbled upon yet.  Please tell me if anything comes to mind.  His blood work is normal for the most part and we are very cautious about exposure to allergens, so we monitor what he eats and never change detergents etc.  It really points to some sort of autoimmune from what I know, but nothing has come up. This hand clenching thing is the newest and really upsets me as our pediatrician feels whatever he has is getting progressive but can't tell me what it is or what is next to come.  My son is a normal healthy 4 yr old on all other accounts which is what makes this so difficult to understand. He does not act sick except that he cries on and off about his hands and legs. I know I'm rambling but I do not want to miss any key points. Please help if you can, I'm on the verge of a breakdown over this.
Thank you.
Dorene
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[Forum-M.D.-DT]

OK Dorene,
I am ready to work with you to help get this problem solved.
I am going to focus on 4 symptoms you described.

1. Asthma
2. Hives
3. Dark Circles under the eyes
4. Hand pain

To begin, in practice when I see a child with dark circles under their eyes I think about asthma. We call these "allergic shiners". If your son has dark circles under his eyes and develops a rash due to "pressure" on the skin we are talking about allergy. Asthma indicates "sensitive" airways. When the skin becomes red and inflamed due to pressure or other irritants to the skin, this is called "urticaria". Put simply, your son has sensitive skin and sensitive airways. Now, I can tell you that my impression is that your son's asthma is not well controlled (hence the presence of the "allergic shiners"). Children who have asthma that is not well controlled may have periods where they hyperventilate. Hyperventilation may cause uncomfortable, tingling sensations in the hands. He is 4, so he may say his hands "hurt". But you may want to ask them if it feels like something is "poking his fingers". If he says "yes" to this, you may be dealing with periods of hyperventilation due to his uncontrolled asthma.
So, how do we control his asthma? 4 year olds do very poorly with inhalers. Is he on an inhaler? I would suggest the following to help control his asthma.
1. Albuterol syrup 2mg/tsp 3-4 times/day
2. Singulair 5 mg /day  (this medication helps prevent inflammatory cells from going to the airways/skin in response to irritants.

My thought is this, if the asthma is controlled well, the dark circles will go away and there will be less liklihood for periods of hyperventilation. (note: hyperventilation does not mean you necessarily see your son "breathing fast" ... an increase of his breathing rate from 16 to 24-28 breaths/min would not be detected necessarily by you)

He needs to stay away from smokers and if you have pets they need to be bathed regularly and not be allowed to sleep in his room.

I would be really interested to see what would happen if he took singulair and albuterol regularly as I describe above. Like I tell my patients ... there always is an answer. I am ready to work with you to help find a solution.

Dean M. Tomasello, M.D.

[dorene]

Dr. Tomasella,
Thank you for your very carefully detailed reply.  I must however, stress 2 key points, Michael has been free of an asthma attack for a year now. In fact he has not needed the nebulizer nor antibiotics this entire year, however, when he was younger his asthma was very bad.  So although your explanation makes sense I am cautious about putting him on unecessary medication.  I did ask him about the type of feeling in his hands and whether it felt like someone was pricking him or tingling, he again said "no mommy, they just hurt bad"

The fact that all the symptoms including the blood in stool come at the same time...does that raise any flags for you?

Thank you once again so much for your time.

[Tomasello_MD]

The presence of blood in the stool is certainly a concern.

Is he coughing excessively before blood appears in the stool?
It is possible that some rectal abnormality such as a hemorrhoid may cause bleeding following an episode of coughing.

Also, commonly inflammatory conditions of the colon may go along with other "allergic" conditions. The fact that the blood is "red" means that it is coming from the "Lower" part of the large intestine or the rectum/anus. Has this been inspected by the physician thoroughly. I have seen some cases where there is a small blood vessel abnormality known as an "Atrial-Venous Malformation" (or AVM) which may cause recurrent rectal bleeding. I have seen this in adults far more commonly but it is possible that this may be causing the rectal bleeding you describe.

I agree, if his asthma is controlled, adding new medication is not the way to go, however, based on what you are telling me here, we may need to proceed with a more thorough examination of his anus, rectum and possibly the large intestine.

Keep me posted.

Dean M. Tomasello, M.D.

[dorene]

One again thank you for your insight Dr Tomasello.  He has had 2 colonoscopies, the first was hindered by stool and part of his intestine is like a cork screw so the doctor was unable to go as high as she would have liked. However, she did see inflamation (inflammation) but the biopsy came back negative. The second colonoscopy was performed during surgery when they removed his appendix. There were no hemroids, fissures or any site where they could indicate the blood was coming from. Although we realize because of the color it must be coming from below the stomach, is it possible that it is coming from the small intestine which they can't look in?  No to your question regarding coughing, he does not cough prior to bleeding.
I know you can't continue to spend a lot of time on this so I'll ask one final question.  Who do you suggest we take him to now in terms of specialty and what tests would make sense to perform without putting him through much more unnecessary trauma?
I truly can't thank you enough for your time and input, unfortunately our own pediatrician is so frustrated by this as well, that they are throwing their hands in the air and I need someone who won't give up on my son. THANK YOU!

[Tomasello_MD]

I read the comment you posted regarding "undiagnosed inflammation". Interestingly, you may very well have hit on something here. While polymyositis and dermatomyositis are not "usually" associated with problems with the internal organs, as you read from the excerpt from the Merck Manual, it can any may be associated with bleeding from the stomach and esophagus. Blood coming from these areas would not appear red in the stool but rather black.
Many of the questions I answer here and at my site (www.NetLiveMD.com) come from patients (or family members of patients) who have seen many doctors and have had many tests. I have reread your initial question and see that you mention that you have seen a Rheumatologist. Rheumatologists are specialists in diseases such as Polymyositis. I will be the first to admit that doctors are human beings too and it is quite possible that the rheumatologist may have overlooked this as a possible diagnosis. It may be well worth your time to consider speaking again to the Rheumatologist or possibly getting an opinion from the second Rheumatologist. This problem you describe is perplexing, I will admit, but will tell you, as I tell my patients, if you DIG long enough ... you can almost always find an answer.
Keep me posted and I wish you well.
Dean M. Tomasello, M.D.