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Avatar universal

Multi-system issues

My daughter is almost 5 years old, and has had multiple medical concerns since birth.  We have been ferried from specialist to specialist, and while her condition has deteriorated now to the point that we have an advance directive in place, we have been unable to find any root cause for her illness, nor halt its progression.

As it stands currently, she has intense multi-system involvement - very briefly, here is a list of current concerns by system.

Dermatological - Urticaria pigmentosa, slow healing (yesterday she had an incision reopen from a procedure 6 weeks ago)

Neurological - seizures, left MCA ischemic stroke, stroke-like episodes, hypotonia, autonomic dysregulation, global developmental delay, behaviour and impulse control issues, ataxia, tremors

Cardiovascular - ECG abnormalities, bradycardia

Respiratory - recurrent pneumonia, asthma, respiratory muscle weakness

Ophthalmological - significant hyperopia, exotropia

Gastrointestinal - dysphagia, GERD, mobile intestinal malrotation, repeated bacteremia due to bacterial translocation (most recently, lactobacillus, pseudomonas and e coli), chronic intestinal pseudo-obstruction, chronic constipation, malabsorption, severe dysmotility - in short, intestinal failure, she has been TPN dependent for over a year now

Nephrological - renal Fanconi syndrome, secondary to suspected mitochondrial dysfunction (electron transport chain testing demonstrated reduced activity across all complexes), massive generalized aminoaciduria

Hematological - Bone marrow "failure" - refractory anemia, elevated INR/PTT resistant to Vit K therapy, thrombocytopenia, does not mount a white cell response to bacterial sepsis

Does this ring any bells?  I am not expecting to have success with this - some very gifted medical minds have been unable to come up with anything unifying up to this point, but nothing ventured, nothing gained.
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Avatar universal
Coxyart,

Because she is on TPN, her trace minerals are checked frequently - and there is no copper deficiency or excess.  

This is not really an issue of doctors not looking/doing anything - they have looked at all the obvious and not so obvious things.  Instead for testing for the sake of testing, our goal for her is directed testing - to rule in or out disorders.  She had had intestinal, stomach and muscle biopsies, plasma and hemoglobin electrophoresis, blood and urine tests, MRI, CT and other radiological testing, nuclear medicine scans, you name it - she has done it.  Interestingly enough, despite nearly a dozen GI tests (upper GI, barium swallow etc) the intestinal malformation was not discovered until the surgeon reached into the upper left side of her abdomen and pulled out her appendix and caecum (supposed to be in the lower right).

Realistically, we do not expect to find something that can be cured, but if there is a treatment or prognosis that can give us an idea of how long she will be with us and a way to keep her comfortable for that time, we will be more content.  

As for the infections - the majority of them are bacterial translocation into her bloodstream aside from stopping all enteral feeding (which we have done) there is nothing else we know of to prevent them.  Being dependent on IV nutrition and accessing her central line daily increases this risk, but her infections are coming from within her own body - they are supposedly "harmless" bacteria from the intestinal tract.
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Avatar universal
Wilson's disease (excess copper in tissue) would explain most of the symptoms you describe such as:

Blood disorders: Anemia (poor healing),elevated PTT,
Thrombocytopenia.
Neurological disorders:Behavioural problems,Ataxia,tremors,seizure,
Dysphagia.
Cardiovascular:Various ECG abnormalities,Bradycardia,Autonomic Dysfunction.
Renal:Fanconi syndrome.
Respiratory:Pneumonia (due to Dysphagia,immobility).

Most people present with Wilson's after the age of 10years usually with liver problems,neurological problems usually present later still at around 20years,however rarer cases can present sooner.


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Avatar universal
Hi.
After reading your post, and being a mum also, i think if i was in your shoes, i would now be asking for some genetic testing, and would also be asking to see an immunologist, regarding the frequent infections.

On first reading, my first thoughts were Genetic, but as to what illness, i dont know what.

This sounds like what ever this is , it is multi-system, affecting all systems, including blood.

It sounds like your little girl as been through the mill, and its about time the doctors pulled there fingers out , to find the cause, so your little girl gets the appropiate treatment to treat the cause.

Please keep me informed.
We have a very good doctor on this forum called doctornee, who maybe able to shed some light for you ,
Also we have some medical answerers, with good information also, the more help the better in this case.

Nicola
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Avatar universal
As it stands, aside from mitochondrial depletion and deletion analysis, and testing for the MFTHR gene due to the stroke, no genetic studies have been done.  She does not fit the "profile" for any known syndrome, and a microassay has never been ordered.  She has no obvious dysmorphic features, so at this time, genetic testing has not been pursued.
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