can someone help explian mri results please?

[imawigglyworm]

Hi all ds is now 17months with a list of problems GDD & microcephalpy (sp?) being the main. Hes recently had an MRI and the results have just come through. all the letter says is 'I am pleased to report that ds scan has not shown any significant abnormality'. (It was a brain scan) and I guess it means no tumors or brain damage, etc were found but what options does that still give us? could it still be a neurological disorder?
Sorry im really useless at all of this

Sounds positive which is good! There are some kids dx with CP despite having clear MRIs so can happen.

I would say that they think the MRI is clear, but don't want to totally commit, because sometimes a very experienced radiologist may see a slight difference which may or may not be relevant. If they say 'MRI normal', then you could get upset that they found something slight.

It is unlikely that they would write that to you unless they were confident that there is no cause for the GDD & microcephaly from the brain structure shown on MRI. So no reduction in ventricle size, white and grey matter in the right places, etc.

My DD had a clear CT scan, but MRI showed widespread abnormality, although it took a very experienced radiologist to spot it, because it was quite subtle.

Hi - we're in the exact same situation! My ds 22 months has gdd and microcephaly. His MRI was also clear - we are currently seeing a geneticist and neurologist. It is believed that our ds has a genetic condition although the neurologist is also doing tests for what she said are very rare metabolic conditions. It was explained to us that although the MRI is clear - meaning there is no brain damage, grey matter, abnormality in size, myelination etc it doesn't mean the brain in functioning properly.

Surely you must be going back to your paed for a further apt for next stages - what other tests have been done? We've had EEG, chromosome work up, fragile x and other metabolic tests.

Sorry meant to say we were told no abnormality detected on MRI but we've been told that on every single test so far - I think that's a bit of a get out clause in case later down the line there is a tiny chance something was missed!

thanks for all your answers sorry im so bad at keeping up on here and Ds has just had his hernia and teste op so been a bit hectic.
hi sport I think ive posted on another SN thread youve been on recently too. we are due to see consultant again early dec and actually have our 1st geneticist appointment this afternoon- im looking foward to it but also keeping an open mind that we wont get answers/ or it could still take a while. Ds's consultant has come to a dead end with ideas and said at last app it was up to MRI & genetics to get any answers so fingers crossed. weve had CT as they though it was craniostynosis (sp) but isnt, fragile X, loads of other blood tests but im not sure what for as paed doesnt like to really say. like you everything so far has come up negative.
does your Ds have any other problems? My Ds has hole in his heart, sensory problems, severe constipation, partially sighted, hearing is still under investigation for recognising low tones.
what sort of age is your DS at? Ds is averaging about 6-8 months atm, he has made some progress lately though. Hes mastered rolling over & looks so pleased for himself is able to sit almost unaided but can not crawl, stand or babble yet.
sorry loads of questions and gone on a bit there lol x

Hi - How did genetics go? We got an awful shock at our apt, our Paed had said, considering all the tests he's had done it was unlikely we would get a dx at this stage but would refer us to Neurology and Genetics to ensure we had ticked all the boxes. So I fully expected Geneticist to say all the tests had been done so got a massive shock when he said he was 100% certain DS had a genetic condition and we were 60-70% likely to get a dx over the next year. We are very fortunate that our DS has no other problems, the Paed put him about 12 months behind and he'll be two in Dec. He rolled at 15 months, sat completely unaided at about 13 months, he's not crawling. In the last few months he's started weight bearing but can't stand unaided, he's babbling but no definite words, we get da da but not referring to my DH if that makes sense.

Great news on your DS's progress - I'm sure you were doing cartwheels when he rolled. Mine did it on my birthday - best present in the whole world.

Wow I can imagine it was the best present, going through something like this makes you realise how much you take for granted when you have children.
Genetics went ok, we had a lovely lady who said she couldnt see any obvious answers but seems quite certain there is a reason as theres too many small problems to be a coincidence iyswim and as he had a bilateral hernia she thought this was more likely due to condition, I think maybe its not very common in babies.
She decided to do a more detailed chromosone test so weve got to wait a few months for results for that but if it comes back negative then she will test specific genes (more related to conditions involving hernias& undesended testes).
Feeling positive that even though she doesnt know whats wrong she is still doing tests. But I hate the waiting! Fingers crossed for you that you do get answers soon, I know it doesnt change anything but it fills the void and you know what to expect for the future & how to best deal with things.

Hi - thought I would jump in as there are some similarities here to my DS2. From birth he was kept in hospital for tests. The MRI showed no abnormalities of the brain and the brain activity was fine on the electrical tests (not sure what they are called). But, and I found this confusing, it doesn't rule out learning difficulties. Later he was diagnosed with a genetic condition called Prader-Willi syndrome. This might be one of the syndromes your geneticist checks for as undesended testes are a part of it. He is 8 months and rollinig and pushing his head up on his front now. Not very vocal and not babbling yet. Sitting might happen around 1 year the physio said. Our chromosome tests took a while as there are different mechanisms for PWS and they had to test to find out what caused it. Turned out both DS's chromosome 15's came from me, instead of one from each parent. This is stupidly, randomly rare. Good luck with it all

Hi hellenbach - we believe they're considering angelman for our ds which I think is the 'sister' syndrome to prader willi?! Can I ask how long your tests took?

Wiggly - glad it went and yes the waiting is crap!

hello, in same boat as all of you.

1980sport, sorry, i meant to reply to your last PM but life got very hectic!

my DD's detsiled chromosome tests showed 2 abnormalities, dh and i are having blood tests tomorrow to see if they sre just natursl variants inherited from us or to blame for all her issues.

No worries Fanjo - all the best for tomorrow hope you don't have too long a wait for results!

thanks! don't know if we will manage to both get tests done tomorrow as DDis really sick so won't be at nursery so one of us will have to stay at home unless she is well enough to sit in car.

Oh nightmare, god it's one thing after another - hope she's feeling better soon.

Wiggly - I meant to write glad it went well.

Hi 1980sport. First they took DS2 blood but it all came back okay, as he had the correct number of chromosomes. Then took DH blood to look for the paternal deletion for Prader Willi.Came back normal. Finally they took my blood. Then they did detailed work to find the cause. So from birth I would say up until he was around 7 months we didn't have the full picture. But they did conirm PWS at 5 weeks as they could tell he had a 'chunk' of dna that wasn't working. It's all a bit mind-blowing how they work this stuff out! Yes I have heard of Angelman. It's like the mirror image genetic wise I think. Did find I had to chase Genetics a bit as our local centre covers half off London, so it took a while. The waiting is crap.

we had the blood tests today to check our chromosomes, it's a drawn out process.

followed by day in A and E with sick DD..the Gp checked her after our blood tests and sent us up there..just a virus though!

Thanks for the info hellenbach. I'm struggling with the waiting and it's only been 6 weeks.

Hope your dd is feeling better fanjo! Stressful week?!

sorry, just saw this! DD is worse, so week is getting more stressful, can't see her making her neuro appt on momday, we have waited months for it!

hope your DD is better fanjo. most of my household are just getting over a tummy bug we seem to catch everything here but easily done with one at school and another at pre school :-(
Thanks for all the help, I just find it so hard to take all the info in sometimes or I think of questions after the appointment!

I'm exactly the same - we went to our gp on Friday to see if he could help us get our heads around all the info! He said he'd never met a neurologist or geneticist who didn't need a personality transplant! Which made us chuckle!

Fanjo - I pm'd you, hope dd is on the mend

thanks..DD turned a corner amazingly quckly, from being very ill indeee she started eating, playing and causing havoc, house has been unusually tidy since she was ill and she messed it up in half an hour!

could probably habe made the appt if it had been tomorrow

i must learn to type on this ipad!

our gp isnt much help really he just tells us to check with paed unless its something simple. Although at DS's 8week check he had recorded that Ds's testes were where they should be, if he had checked properly he would of noticed that they were very high and maybe we could of had it sorted earlier. But its done now.
Im hoping I dont get this tummy bug in our house cause im due to do a makaton course tomorrow. any one else done one? its been ages since ive been at school/college is gonna feel weird lol