Avatar universal

Recurrent Fevers, Sore Throat, Abdominal Pain, Nodular Opacities

My 7 year old son had been experiencing poor weight gain, fatigue, recurrent fevers accompanied with sore throat, enlarged lymph nodes in the neck, and abdominal pain for over a year. The fever episodes occur anywhere from 2-6 weeks apart. They typically last 4-7 days. Occasionally, the fevers will onset, improve after 3 days, then reoccur 3-5 days later. Within the past 4 months he started to develop a dry cough that worsens with exercise. In November 3019, they discovered multiple nodular opacities on both lungs. At the time of the xray, he was asymptomatic, except for the dry cough. He was given azythromycin for 5 days and retested 3 weeks later, and all but one nodular was gone. At the beginning of February 2020, he had another severe fever episode, lasting 2 weeks, ending in a 5 day hospital visit. Another chest xray was done, showing multiple nodular opacities again in both lungs. A high dose of iv antibiotics were started and a CT scan of the neck and chest was done two days after starting antibiotics, revealing a decline in the amount of nodular opacites. He has undergone genetic testing, nothing came back linked to an inflammatory or autoimmune disease. He has had multiple labs done. While they seem to go up and down, his sed rate, crp, and neutrophil count have pretty consistantly came back abnormal. Most recently, his red blood cell count came back high and blood smear revealed pale, enlarged cells. In addition, he has had multiple upper and 1 lower scope, 2 Ct scans of the throat and chest, 3 chest x-rays, abdominal x-ray, abdominal ultrasound, and echocardigram. He was diagnosed with eosinophil esophagitis when he was 4 and has been in remission for the past year. On the abdominal ultrasound, they seen a growth at the top of his bladder and at the base of the urachus. He was born with a cyst on his belly button but it was originally diagnosed as a sebaceous cyst. Now, we are discovering that was a misdiagnosis. He has been treated with steroids during the fever episodes, specifically to see if it might possibly be periodic fever syndrome.  The results weren't consistent. Sometimes it would seem like he responded, and other times he did not. He is currently scheduled for a tonsillectomy and surgical procedure to remove the cyst and growth on his bladder. He is currently seeing a rheumatologist, infectious disease specialist, Gastroenterology, and urologist, and we still do not have a diagnosis and have no real answers as to what is causing all the issues. This is taking such a toll on our family. My son ability to attend school, participate in extracurricular activities, and social interaction is being effected. I am at a loss for where to go and what to do to get answers. If someone could please help, any information would be appreciated. Just to note, my son is 7 years old and only weighs 37 pounds and is 42 inches tall.
2 Responses
1081992 tn?1389903637
Hi, KDN. Whenever I see ~"strange symptoms scattered throughout the body" and ~"doctors have no answer", I'd think first of it being some mystery immune condition. Your son's EoE was methodically diagnosed with a biopsy and a microscope, yet as you likely know the actual underlying cause is unknown.

Still, I recall an M.D. researcher named Greenhawte giving a youtube talk about EOE, and he ends by speculating that mast cells are behind it all. That makes sense, with the MCs being the masterminds and the eosinophils being the enforcers, so to speak. Mast cells have over 100 types of receptors, and over 200 types of signalling biochemicals that they produce, so they can be involved in an awful lot of things.

It's not easy finding a mast cell specialist, and that's not a board certified specialty. But it's a possible way to go that hasn't been explored yet. Mast cells are naturally and heavily present in the lungs and in the esophagus, and MCs can summon eosinophils to either place. Besides, there are such things as eosinophilic lung disorders that can produce nodules. These conditions can be associated with failure to thrive.

You might get a doc to write a standing order for a blood test for IgE antibodies (which are used by MCs and Eos), to do when the next fever comes. This is assuming that cyclic neutropenia has been ruled out.

There doesn't have to be eosinophilia in blood tests for there to be eosinophilic problems in tissue.

Thank you for the response. I appreciate you taking the time to go over some of the possibilities and areas for me to explore. I researched to see if there is a MC specialist in my area and there is within a 200 mile radius. Thanks again for all your help.
1081992 tn?1389903637
KDN, let's see if we can save you some trouble. What the MC doc's office will likely do is have you take him there, they'll take a history and then write the orders for some tests without you seeing the top doc. Then you have to go there again when the tests are done. But what if you can instead have one of his local docs order the initial tests for you? It's worth a try. Then you can some time after that get the MC doc to review the results, or even have his local rheumy review the results.

Here's the semi-official site that might have more docs near to you listed: https://tmsforacure.org/physician-database/

That site would also list the tests to be done, which might or might not coincide with what any particular doc would order. But you should avoid any doc who merely wants to do a tryptase test, since that's old fashioned and wholly insufficient.

Overall, what I'm suggesting to you is that your son's EoE should be regarded as the most important clue, rather than the EoE just being disregarded because it went away. EoE isn't just random, it only occurs in susceptible people with unusual immune systems. The MC angle gets support if your son has had a lot of allergies and/or food sensitivities and/or chemical sensitivities, and if his skin flushes a lot.

Please let me know how things turn out.
Have an Answer?

You are reading content posted in the Undiagnosed Symptoms Community

Top General Health Answerers
363281 tn?1590104173
Nelson, New Zealand
1756321 tn?1547095325
Queensland, Australia
19694731 tn?1482849837
Learn About Top Answerers
Didn't find the answer you were looking for?
Ask a question
Popular Resources
Discharge often isn't normal, and could mean an infection or an STD.
In this unique and fascinating report from Missouri Medicine, world-renowned expert Dr. Raymond Moody examines what really happens when we almost die.
Think a loved one may be experiencing hearing loss? Here are five warning signs to watch for.
When it comes to your health, timing is everything
We’ve got a crash course on metabolism basics.
Learn what you can do to avoid ski injury and other common winter sports injury.