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Pediatrics Treatment for juvenile patients

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  #1  
Old Wed Aug 28, 2013, 11:39 AM
momof4 momof4 is offline
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Hypocellular Marrow for 8 year old

My son, 8 years old, recently had his second BMA. This time it showed to be hypocellular 20%-60%. Much lower than the first BMA. He has been diagnosed with ITP but suffers from extreme fatigue, peeling fingers and toes that bleed, petechiae even when platelets are normal. His FISH came back normal. His marrow showed macrocytic normochromic red cells without anemia; lymphocytic hematogones, and megakaryocytic hypoplasia. Says blasts are at the higher range of normal but are morphologically unremarkable. Because of the FISH does this completely rule out MDS?
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Old Wed Aug 28, 2013, 11:55 AM
Marlene Marlene is offline
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What where his B12, folate, iron, zinc, copper and B6 levels? Even if B12 falls within the low normal range, this usually indicates a vitamin problem. Peeling skin can be a result of a B vitamin deficiency as well as Vit C.

Regarding the petechiae when platelets are normal...does he have additional bleeding issue. If so, they should check his clotting times/factor.

Hopefully, they ruled out the easy stuff. But many times, nutritional issues are overlooked or not considered significant.
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Marlene, wife to John DX w/SAA April 2002, Stable partial remission; Treated with High Dose Cytoxan, Johns Hopkins, June 2002. Final phlebotomy 11/2016. As of January 2017, FE is 233, HGB 11.7, WBC 5.1/ANC 4.0, Plts 146K.
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Old Wed Aug 28, 2013, 12:25 PM
momof4 momof4 is offline
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Yes they have checked all Vit deficiency's. This has been going on for almost a year with platelets dropping to 0 at times. He does bleed from nose, mouth, and lips. He has had weight loss. Sleeps sometimes 16 hours a day. Just know that something is wrong. Just a worried mama!
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Old Wed Aug 28, 2013, 12:52 PM
Marlene Marlene is offline
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I too would be worried. I would encourage you to get copies of the results just to make sure they have not dismissed a low-normal as OK. Low-normal B12, especially for an 8 year old would suggest further investigation is needed. And a high-normal to high levels of folate or B12 can indicate a utilization problem.

It's good to get copies of all results so you can track the trends. You're really the only one who will see the entire picture of his health because you spend the most time with him. So all his CBC's, chem panels, BMB's etc., would be good to have.
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Marlene, wife to John DX w/SAA April 2002, Stable partial remission; Treated with High Dose Cytoxan, Johns Hopkins, June 2002. Final phlebotomy 11/2016. As of January 2017, FE is 233, HGB 11.7, WBC 5.1/ANC 4.0, Plts 146K.
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Old Wed Aug 28, 2013, 01:14 PM
momof4 momof4 is offline
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I have copies of everything. I have been told numerous times he doesn't fit the textbook case of ITP. They have figured something else was going on. We have discussed MDS a few times. This last BMA was specific for MDS. We have an appt this week. I was just wondering if hypocellularity is normal for a child. I know it is not normal for ITP and does not go along with that disorder.
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Old Wed Aug 28, 2013, 04:11 PM
Hopeful Hopeful is offline
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It is possible that your son has an early form of AA or hypocellular MDS or something else. As you said, hypocellular bone marrow is atypical for ITP.

Here is a good article that discusses, among other things, checking for elevated EPO and MCV which may be indicative of evolving AA:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3128894/

Having a normal FISH means that your son does not have any cytogenetic abnormalities, which is good. It doesn't rule out MDS though.

Hope they can figure this out quickly! Don't be afraid of getting a second opinion at another center specializing in bone marrow failure disorders. The more eyes looking at this, the better.
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52 yo female, dx 9/08, AA/hypo-MDS, subclinical PNH, ATG/CsA 12/08, partial response. Tried slow cyclosporine taper over 4+ years. Platelets fell, so back on cyclosporine. Trisomy 6 clone in 5% of cells.
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Old Wed Aug 28, 2013, 09:46 PM
Chirley Chirley is offline
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Sounds like when my brother was 11years old. Same symptoms. He was treated for ITP with high dose steroids and he improved.

Over the years it would come and go. Then they developed a test for Lupus and it came back very very positive.

My brother has thrombocytopenia episodes, has prednisone, it improves, he's okay again for a while and around and around.

BTW, he turned 62 this year! He's happy and healthy and enjoys physical work on his hobby farm.

Hope things turn out ok.
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Copper deficiency bone marrow failure (MDS RAEB 1), neuromyelopathy.
FISH reported normal cytogenetics but gene testing showed
Xq 8.21 mutation
Xq19.36 mutation
Xq21.40. mutation
1p36. Mutation
15q11.2 deletion
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  #8  
Old Wed Aug 28, 2013, 11:18 PM
curlygirl curlygirl is offline
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I'm so sorry to hear that you and your son are going through this and that it has been going on for a year. My son is also 8 and has Aplastic Anemia. It sounds like your son may be progressing there but I'm sure your doctors are looking into it and can advise you. I agree with talking to pediatric hematologists at another hospital. We visited 3 if only to make us feel better and figure out how we wanted our son to be treated. I'm glad you found this board because it helps you to keep informed on new treatments and ideas.
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  #9  
Old Tue Oct 22, 2013, 08:58 PM
Jparker82 Jparker82 is offline
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I have had ITP for several years. Mild ranging from 50-85k. I was dx with B12 anemia about 2 years ago. After a few years of shot my platelets are now in low normal range. My hemo say it has nothing to do with it. I don't agree. I decided to skip a shot an YEP low platelets again.

Anyway it's worth checking out. And best of luck.
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