UPDATE - Seeking docs to play "House" for real
 

Apologies if this is the wrong forum, but I really need some help for my dangerously anemic infant daughter (Hgb count 3.6 last week). We cannot identify the cause. The docs at the children's hospital are just about out of ideas.

I'm here looking for doctors who may have the background to suggest avenues for exploration or who have seen similar cases before. I know the limitations of this request but I'm desperate for ideas. We've burned through the first 80% of the Pareto principle and are now well on the back side of that curve. Hemotology has the lead at the moment, neuro and gastro have been consulted with no interest.

Brief background:
10 month old Caucasian female
hospitalised 17 Dec with Hgb count 3.6. 2 tranfusions returned to 11.1 by 22 Dec. Reduced again to 5.6 in only 6 days, 28 Dec.
Orange skin tone first appearing 20 Oct, increasingly apparent as Hgb drops. Eye whites unaffected - still pure white!
RBCs being destroyed yet no evidence in bilirubin (count of 2-3 when Hgb was 3.6), white cell and platelet count normal. RBC production not known (marrow results tomorrow) but suspect near zero.
All common viruses, bacteria test negative

Full lab results available upon request.

That's the basics. If you can offer something to help, please get in touch either on this thread or by PM. If you know experts in ANY field who may be interested, even for the intellectual puzzle element of it, please connect us.

Somewhere, sometime, someone has seen this before - just not at our hospital.


Pitts2112

My thoughts and prayers are with you. Hope someone comes up with help soon..

Thanks, HD. Every little helps.

You could try a pm to DX Wombat, she used to be a pediatric ICU nurse in the Leeds area and could proberly give you a few steers for people to contact.



I echo HD my thoughts are with you.

Pitts, you have a pm. M-J, I'll do my best.
Just had another couple of thoughts since I sent the pm. One is that it may be a metabolic problem of very late onset - most appear shortly after birth, or it may be due to accidental ingestion of a toxic substance [typical things are weedkillers etc] Like everyone else my thoughts are with you.

Pitts, good luck and fingers crossed for your little one.

I'll have a word with my FiL and get him to chat to the Haematologists that he knows.

I don't know if it'll be any use, but we can but try.

I had that though as well SAS C Walker in Glasgow. Mind you with that family they could cover a complete hospital of Consultants.

PS and thanks granny

Best of luck. I've PM'd you, I know someone who may be able to point you in the right direction.

Already the PPrune readership starts to deliver - thanks loads everyone! But we haven't hit the answer yet so please keep them coming!

New information from today - it appears from the bone marrow test that she is producing healthy RBCs, they're just disappearing leaving no trace anywhere that's been found yet.

Cheers,
Shawn

I'm very sorry to hear about your daughter. You're definitely talking about a problem that needs a haematologist here.

I can't help with diagnostic suggestions I''m afraid (I'm a paediatrician specialising in disability), but my first question would be "which hospital is she attending?" If she's got something incredibly rare that a specialist children's hospital can't identify, then you should seriously think about asking for a second opinion from Great Ormond Street. If she's already under GOSH, then you've already got the best paediatricians in the country working on it.

Please pm me if you wish.

TV,

Thanks for the suggestion. I should probably add that, despite my out-of-date Pprune location, we are in Brazil right now working through a Children's hospital in the city of Curitiba (about 500 km from Sao Paulo). It has a mixed reputation; some say very good, others very bad, all anecdotal. It seems to have a full complement of normal departments, but I think we're out of the realm of the normal. If they run out of ideas, and Sao Paulo or Rio don't have the expertise to help, we'll be on a plane to GOSH as soon as practicable.

I think at this point we need to find people that deal in the weird and the arcane - people who have seen the one-in-a-million cases like this one. The question is, who are they? What area of expertise are we looking at? This doesn't seem to be a hemotology problem, so which department do we turn to next? Just thinking aloud there, by the way.

I appreciate you taking time to respond, and offering whatever you can. It all helps!!

Cheers,
Shawn

It's a Haematology problem alright. I wouldn't let them bounce you to another department unless they have some idea of why.

Haemaglobin going missing with no change in billirubin? Skin going orange, which is the classic sign of Haemolitic anemia...

What other department can help? It could be a virus or something like malaria, but you've not been in the country long enough really and I assume Brazilian Docs are fairly used to Malaria.

SAS,

That's interesting because the haemo chief said they'd ruled out haemolitic anemia for some reason. I'll check back on them with that.

As for malaria and stuff, that's another interesting conundrum: Looking back at pictures, she started turning orange around 20 Oct but was acting fine in all other respects. Her "crash" started on 15 Dec with a fever, one-time vomit on 16, and again on 17 Dec when she was taken into the ER with an Hgb count of 3.6.

Since then, her Hgb destruction seems to have been at a high rate. After two transfusions a day apart, her Hgb was up to 11.1, 10.8 a day later, and down to 5.6 after 6 days (from the 11.1 reading). So, it seems to me that her Hgb destruction has accelerated but something was turning her orange for about 6 weeks prior to that. I'm no doctor so have no idea how, or even if, these timelines and conditions are related but something seems to be changing rates.

Coming back to the malaria, it seems like this started while we were in the UK but accelerated recently. Whether that is due to the move or something she contracted here I don't know. I'd be surprised, though, since my mother-in-law is about as OCD as anyone you've ever seen when it comes to germs and the baby. She doesn't even like to let the baby go outside because it's not clean.

We've recently discovered mice are getting into the house, though. Could that have anything to do with it?

Shawn

Not sure, though I've just spoken to my FiL and he gave me a hugely long and considered stream of medical stuff. He's going to jot it all down and send it through to me in a bit once he's had a chance to conference with a friend of his.

The gist is though, he's wondering if she's had some sort of viral infection that has knocked her a bit, but there are a few tests that he's going to suggest. Oh and there were a couple of terms he didn't understand and he'll say what they are. Segurado I think was one of them.

I'll e-mail it through as soon as I get it from him.

Oh and by the way, he hates "House" as they always do 10 tests where 1 would do!

Pitts, you might like to try The Liverpool School of Tropical Medicine. There is a "Contact Us" link on the site. Once I learned of your location something elso sprang to mind - Yellow Fever but I am pretty sure you will have had your vaccinations.

E-mail sent Shawn.

Hi Pitts

My thoughts are with you, however I'm sure as much as you appreciate the best wishes some medical expertise is more valuable so I will hand over to my better half 'Dr One Day Soon'........

Hi, so sorry to hear about your little one. I agree, it may be time to contact someone in tropical diseases for an opinion, but if her signs of a skin colour change started before traveling to Brazil, you may not get answers here either. You do need to double check her bilirubin levels as these would be raised in a haemolytic anaemia (with whatever underlying cause). Her remaining liver function tests as well can give an idea of what else may be going on. I presume they checked a blood film and looked at the nature of the red cells? If this is normal also, then haematological problems may be generally excluded. Have they checked her stools for blood also?

With the issue of mice, it may be wise to ask about a disease called leptospirosis, which is an infection usually caught through rat excretions. It is a long shot, but often presents with a very varied symptoms and therefore gets missed as a diagnosis at the start.

If her bilirubin is normal, you have to consider all the other ways your red cells disappear - bowel is usually the first to consider (hence my comment on her stools) . Is she losing blood in her urine ( is her kidney function ok?) Have they done an ultrasound of her abdomen and looked at her spleen? Is her breathing normal?

Also a very slim chance is an hereditary/genetic issue, are either yourself or your partner of Mediterranean/Latin American/Asian descent? (thinking of possible recessive traits like Thalassaemias).

Sorry for the barrage of information/questions but it seems there are lots of possibilities and without the specific results it is difficult to streamline thought processes.

On the plus side, her bone marrow was normal, which is reassuring. Please try to keep positive, sometimes these things do take time to unfold before revealing the truth, and, fingers crossed this will happen soon. It is always difficult when dealing with hospitals you are not familiar with, but it sounds like you have been on top of things which is entirely the right thing to do. Keep going.

Hope all improves and feel free to contact anytime via this thread or pm and I will pass on the questions/developments, Good luck

Thanks very much to everyone for the help so far.

We brought Anna-Nicole home until Monday after another transfusion today (and one yesterday). She's doing fine and shouting up a storm downstairs with Grandma right now.

We're no closer to a solution to the mystery, though, and we're bringing her back for a checkup on Monday, when I fully anticipate we'll need to give her another transfusion.

Test for parvo is still pending, as are the full results of the bone marrow sample. Both expected next week.

As an added bit of data, bilirubin numbers quoted to me today were:
Indirect-unconjugated = 1.3
Direct - conjugated = .2

No real idea what that means but I'm told it's normal and doesn't lead us to a solution.

Initial bone marrow results show she's making cells but next question is whether those cells are making it out of the bone and into the bloodstream. Full results next week should tell us that, apparently.

Until then, I'm staying on freq here and continuing to find as many medical minds as I can to lead us to a solution. Someone, somewhere has seen this before. We just need to find that person. It's a "six degrees of separation" kind of a thing, I'm sure.

Shawn

Hi, Shawn. Check your PMs. Just a lateral thinking long shot.

Hi all, and especially Shawn.

The mods are happy for you to try to glean some extra information on the site here, but please remember that this is an aviation rumour site, and you must be careful how much emphasis you place on the information posted here. There is nothing wrong with your search for answers, but please make sure you back it up with those who are aware of all the details of your daughter's case. It is the team of specialists looking after her that will need to advise you on the best way ahead in the end.

All the best, and good luck.

BM