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Toddler has enlarged liver and spleen

(17 Posts)
Optimist10 Thu 13-Dec-12 04:02:26

Had been for scanning yesterday and there has been little increase in the size of liver and spleen again. We also sadly found the cherry red spot in his eyes which is an indication of metabolic disorder. Have sent the blood now for enzyme analysis to understand what kind of metabolic disorder this is. The Doc have diagnosed this to be Niemann Pick Type B. We are planning to continue him on India Ayurvedic medication with further diet.

SofiaAmes Mon 10-Dec-12 06:17:31

Have they checked for mitochondrial disease. My ds has just been diagnosed and is being successfully treated with supplements (that his mitochondria needs in large doses to function). After 11 years of illness, he is finally healthy. Please check out this website about mitochondrial diseases and see if it may be helpful.

Optimist10 Mon 10-Dec-12 04:12:56

Makingmama Liver Biopsy was a 5 min procedure. Doc had adminstered local anesthesia, and long needle was used to take a sample of the liver organ. I was asked to stay in the room till the anesthesia took effect. The anesthesia has to be administered very minimal because of the enlarged organs. Though the liver biopsy sounds very disturbing and worrying, it a minor procedure with regards to discomfort to the child. My son completly recovered in couple of hours back to his routine activities. We went through the procedure to be sure that there is no big bad things effecting his liver. Please do not worry...completly understand what you are going through. But the positive side is that with one biopsy all the big infections will be ruled out and kicked off.

Makingmama Thu 06-Dec-12 09:13:27

Sorry to hear about your ds optimist...very very hard. I really hope there's been no regression. How did he and you find the liver biopsy? That's something I worry about as ds will most likely need one mid 2013.

Optimist10 Mon 03-Dec-12 07:02:20

Hi,

My son (3Ys) has been diagonized with enlarged liver and spleen. His lipids ratios are not good with low good cholestrol level.

A liver biopsy was done for GSD, Gousher, portal hypertention and other liver infections, all turned out to be -ve. Now it is suggested to go for Niemann Pick investigation. I am very sceptical about proceeding in this direction.

He has been very active and has met all his developmental goals. Good appetite and no known allergy to food. Appropriate height and weight for his age.

Currently he is under Indian Ayurvedic medication under a medical practitioner. He is also under strict diet with low fat and organic food only.

We will be repeating the test sometime end of this month to check if there is any regression in the liver and spleen. Keeping faith very high.

Makingmama Sun 02-Dec-12 22:01:46

yes nightcat he had endoscopy after 6 weeks on a gluten diet, no coeliac disease. However, he was very poorly after the 6 weeks so has a severe intolerance to gluten (among others!)

Thank you

nightcat Fri 30-Nov-12 19:54:21

OP, distended bowel can be linked to coeliac, so can raised liver enzymes and inability to metabolise fats and proteins, has he been tested for it?

Makingmama Thu 29-Nov-12 14:00:58

HI log1q sorry you're going through similar, it's been a very stressful time!

Ds has been diagnosed with a rare genetic disorder called 'alpha-1 antitrypsin deficiency'. It can cause liver disease in dc, more commonly it causes lung disease in adult hood. Unfortunately ds has the most severe type ZZ and is having problems with his liver due to this. Not much they can do apart from monitor his liver regularly. So currently he has bloods taken every few months and is booked to have a repeat ultrasound and possible liver biopsy mid 2013. This will be repeated at least yearly. They have said that depending, there is a chance that he could need a liver transplant in the future, but think that's quite rare <<<hopeful>>>

But even with all of this is just such a relief to know, and I've found a lot of support form the Alpha-1 charity etc. It was very very hard just not knowing and imagining alsorts!

He also ended up have a colonoscopy and endoscopy (camera up and down) due to the digestive symptoms. They found he has colitis, but they are of the opionion that this is due to more food intolerances/allergies.

I've put him on a very restricted diet but high is fat, veg, meat - NO grains, sugar, startches. And he is just thriving on it now. He's put on weight and grown in height, so I'm very pleased with that side of things smile

I really hope you get some news soon and it's good/manageable. I'm here to chat if you want ,,,hugs...

log1q Mon 19-Nov-12 17:17:40

Hi Makingmama,

Just came across your post as my son (18months) is going through the same thing, just had the tests done for Genetic and Metabolic conditions but need to wait till Jan for answers...

Did you end up finding out what was wrong?

Makingmama Tue 22-May-12 21:04:06

Thanks curious, sorry to hear your ds is poorly too, hope you get to the bottom of it soon.

This has been going on for 6 months, since he started having high liver enzymes and it's so exhausting just not knowing what's wrong. He eats like a horse, very high fat/calorific, constantly asks for food too. But is underweight and loses/puts it back on every month. His growth chart has regular v's. stools vary can be diarrhoea, formed but green/yellow, always undigested food, or rarely now brown. I was thinking maybe crohn's disease? Kind of hoping it's that now anyway!

curiousparent Tue 22-May-12 06:30:46

Sorry to hear your lo is poorly. I'm sorry that I have nothing to help you but wanted to 'bump' for you again.

I just noticed that he seems to lose and then put on weight - is his eating pretty constant? What about his diet and bowels? My DS is having blood tests tomorrow as he is constantly unwell and is now pretty skeletal but he gets that many viruses and every time he does he doesn't eat and is also often sick (either from coughing or a temp).

It is so hard when they are un well, and particularly so when no one seems to have any answers. Do you expect to have to wait long for the Gasto Paediatrician?

Makingmama Mon 21-May-12 20:33:42

Bump

Makingmama Sun 20-May-12 10:47:13

He's just been refered onto the paediatric gastroenterologist as the general paediatrician had ruled out all obvious causes.

The gastro dr has just taken more bloods and done another x-ray of his tummy, he mentioned once these results are back he needs to see us again and will be looking at the rare metabolic disorders, something about inability to metabolise fats/protein, and also possibly looking at sugar intolerance.

He has fairly distended bowel loops and lots of digestive symptoms, also allergies and fairly severe eczema (under control). He loses weight quite randomly every few weeks when he looks skeletol, then within a week or 2 puts it back on again...this is a regular monthly pattern.

He had chest x-rays/ultrasound to rule out leukemia in March. Also i'm thinking if it was cancer he would be thin/poorly constantly?

fannybaws Sun 20-May-12 10:32:47

Hi making mama is your little one being assessed by a paediatric gastroenterologist or a general paediatrician?

Makingmama Sat 19-May-12 21:36:54

Thanks nutty, it must not be that common. Would love someone to come along and say don't worry it'll be something not too awful...or just some reassurance that the things it could be are manageable.

Ah I don't know, need to find things to keep me busy whilst they're still trying to find a diagnosis!

Nuttyprofessor Sat 19-May-12 21:16:56

Hi, saw your post earlier, sad to see no one has replied.

I am sorry to say I have no knowledge of this but will bump and hope someone comes along soon.

Makingmama Sat 19-May-12 09:48:11

Hi, can anyone please share any experience or knowledge of enlarged liver and spleen in a child?

Ds is nearly 3yo, he has had raised liver enzymes since last Nov that we know of and has had an enlarged liver and spleen since March a least. We've been told that all of he tests for the more obvious/common causes such as infection are all negative. So next they will be looking into things such as rare metabolic diseases. confused

Is there any chance that this will just go away with nothing major going on? <<<clutching at straws>>>

Thank you

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