Discussions By Condition: Medical Stories

My child has cerebral atrophy with Ataxia

Posted In: Medical Stories 12 Replies
  • Posted By: Bluerabbit
  • March 10, 2009
  • 09:45 PM

I am a registered nurse and mother of 2 girls.
When my eldest was almost 3 I finally persuaded a paediatrician that I was not suffering from a munchausen problem and wanted my child's instability taken seriously.
Within 2 minutes of being in the neurologists clinical room she diagnosed my daughter as having Ataxia, a lack of control to her voluntary muscles. An MR scan revealed she had cerebral atrophy, although apparently fully formed her cerebellum had shrunk, we have no idea why, I had a 'normal' pregnancy and delivery and she never suffered an illness or injury which would suggest this.
Anyway, my daughter is intelligent, sociable, beautiful! she falls over alot, can't jump or stand still, has a very mild slur to her speech which most people don't seem to notice and put it down to an impediment or childishness!
I had some dark moments and stopped reading up on the diagnosis as I was convincing myself that my precious daughter was going to be in a wheelchair in her teens/early twenties.
We haven't been given a prognosis and she has remained relatively stable / no obvious worsening of symptoms.
My concern at the moment is she is frequently having urinary incontinence which is becoming much more frequent. My instinct tells me it is because she is a dreamy little girl who would rather play than go to the toilet and her bladders immaturity stops her from holding it for as long as she attempts to!
But, there is a nagging feeling that this is a progression.......her bladder 'muscle' isn't under the same control as it was and I am so frightened that this is something she cannot help and the disease or whatever has caused this was not a one off accident which has left its mark but a progressive degenerative disease.
I do not know anyone who has a ataxia and I'm useless at searching the net!
is there anyone out there who knows anything about a link between cerebral atrophy/ataxia/urinary incontinence?
Thanx a concerned desperately trying to refrain from being neurotic mother!

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12 Replies:

  • lolwhat is wrong with you?!I read a few of other peoples threads and you and others like you post this reply to many.so telephone masts and the demon mobile phone is the reason my childs brain shrunk and why she wets herself when playing with her dolls house oh my! it is incredulous!
    Bluerabbit 14 Replies Flag this Response
  • lolwhat is wrong with you?!I read a few of other peoples threads and you and others like you post this reply to many.so telephone masts and the demon mobile phone is the reason my childs brain shrunk and why she wets herself when playing with her dolls house oh my! it is incredulous! Well spotted Bluerabbit......:D lol.....ya know theyre hiding now in hay stacks, barns, poles & such like....:rolleyes:.....one word "Paranoid" ! anyway, back to the point, I have no experience of your daughters problem at all but there are some good members here & hopefully they will be able to help you. I see your in Manchester, I've been there a few times more just flying in & passing through, I'm across the puddle in N.Ireland. Hope you get your answers soon. Best wishes.....:)
    Tootsie 628 Replies Flag this Response
  • Thank you Tootsie!after reading and exploring this site I think I may have posted my thread in the wrong section and so will copy it into the 'need diagnosis' section, I always go about things the hard way!on a sociable note, I've never been to Ireland but would love to go one day. I have in laws from the south, cork or there abouts so I hope to explore silly really that we visit spain and america before our own which offer so much. fingers crossed things are not about to go haywire in Ireland and thanks for reading my thread! x
    Bluerabbit 14 Replies Flag this Response
  • I don't think it would stop you getting replys, I never read which forum heading a post is in, as when its into days posts its seen anyway, wait and see how you get on here. I love the south of Ireland ive been all around, its very expensive now though and everything seems to be double the price. Yeah things are a bit worrisome here at the mo, we're all praying its not going to flare up again, deep down I don't think it will but its the same old story a few fanatics out to do as much harm as possible, no-one wants them & few support them, so lets all hope for the best. Its only about 18 miles away from me where it happened, I really feel for their familys & they where so young, its just so sad, heartbreaking ! Otherwise It is such a beautiful country, if only it had a roof we'd be sorted.....rain rain rain....lol anyway, I hope you find your answers. Best wishes....:)
    Tootsie 628 Replies Flag this Response
  • Your daughter's diagnosis is CACH? Is this the cause of the atrophy and ataxia? I believe you are correct at interpreting her loss of bladder control to a progression of this, but it's also entirely possible for your daughter to simply have a regression with bladder control that is normal for a child her age. I would recommend taking your daughter back to the neurologist who diagnosed her with this new symptom and see if there is anything he/she can do for her. They should be advised about this new symptom, even if they can't do much about it it will help to tell them and get a professional opinion as to the cause. What are they doing to slow the progression? Is she on any medication? I'm very sorry to learn you and she are experiencing this. My heart goes out to you!
    Harmonium 322 Replies Flag this Response
  • I have not seen/heard mention the acronym CACH and have no idea what it refers to!my child was born apparently normal, nothing to suggest otherwise, she was 9lb2oz and a foot long! she thrived fabulously, lying her on her stomach from a very early age she could hold her head clear and hold it there i.e lovely and strong, she was I consider, slow at walking but still within the normal milestone limits, she always seemed to prefer to roll everywhere but did crawl for a couple of weeks before finding her feet and the crawl was quick and well coordinated very very normal.at around 6 months old it became obvious her creases at the back of her legs were markedly uneven but i knew her hips were fine as both I and my mother are nurses and are competent in checking for 'clicky hips' she was also seen by an orthopaedic consultant to ensure we were correct! when she began walking it became obvious she had flat feet and when she began independantly standing it appeared as though she was standing on her medial malleolus her feet were that flat! (this is no longer the case)but her father and all his family have flat feet his feet actually turn in really quite bent but he was a great footballer and despite the awkwardness visually with him he never had any shortcomings from this. they advocated arches in her shoes but after wearing them for a short period of time I took the decision to remove them as it seemed to knock her further off balance with the unnatural stance and I read many children have flat feet and they rectify independantly and if not well many an African long distance runner have flat feet and they don't give gold medals away!her gait was wrong to me and despite the ortho input and the physio input they continually put it down to flat footedness and 'lax ligaments' well this I never believed, to me those with lax ligaments make great gymnasts and nothing could be farther from the truth with my daughter! she ran but not like other children ran she would be overtaken on the climbing frame by kids half her age and jumping was non existant to which they continued with the flat footedness and even saying she was an over cautious child.I asked for an ent referral as I had suffered terribly with my ears as a child eventhough i did not display any of my daughters symptoms. that came back as all clear he stated she might well be a case for a tonsilectomy and removal of adanoids when older but certainly the ears were not the cause of her frequent falls and gait. (she does suffer with the winter tonsilitis bug)She was around this time drooling excessively not through teething or hunger! she was over 2yrs old! she didn't pronounce her R's and L's very well and I guess outsiders would struggle to understand her speech, but she had a great vocabulary and spoke from an early age but she could never keep up with her favourite songs although she new them word for word there was a mild slowness. on another milestone check with a health visitor they referred her to a speech and language specialist, again I didn't hold much with this referral as I believe seen as she was talking and only 2 we should wait til she is 6 -8 yrs old before worrying about pronounciation, but of course we went and was discharged the same day with a 'come back when she is 8 and still not pronouncing her R's & L's, she wasn't concerned at all about her pace of speech passing it off as an individual insignificance. so we continued with the physio appointments where they would tell me to get her to practice walking up and down the stairs carrying toys etc to build her confidence, lmao, I think we would have got a diagnosis much quicker had I done this as she would have required a ct scan under the NICE head injury guidelines! I asked the physio to refer me to a paediatrician for the previously mentioned ent appointment and he discharged me on making that referral saying regardless what ent say she is to continue with physio for the lax ligaments and they can re refer to paediatrics if required in the future.after the 'walk up&down stairs' advice i requested a re referral to paediatrics. I was pregnant at this stage with my second child so my daughter was almost 3, the paediatrician actually shouted at me! he said a little knowledge is a very dangerous thing! I had stated that I am an Emergency nurse and although I have no idea what is wrong with my daughter I know 100% it is not down to flat footedness and lax bloody ligaments. he said what do you want a neurologist for goodness sake? to which a very bright bulb appeared over my head and I whispered yes, yes I want a neurologist!we didnt wait long for the appointment and when my beautiful 3yr old daughter walked in the room the neurologist asked her to clap her hands very quickly and she then turned to me winked and said "well done Mum" to which I burst into tears! I obviously had no idea what was about to come but I knew she was about to explain something. So we were looking at Ataxia which comes in many forms for many reasons, I knew of stroke victims and alcoholics with ataxia so I couldn't comprehend how my daughter had it. we very quickly got an MR scan which showed a fully formed but atrophic cerebelar, she had blood tests to check for genetic disorders all of which came back fine.So I have a very intelligent full of fun child who for months I was convinced was going to be in a wheelchair before she reached 20.we have seen the neurologist twice more since the diagnosis and she has no idea why it happened and quite frankly that doesn't really concern me providing it was something that happened. end of. and what we have is what we have and she will adapt and realise if she stands with her feet further apart she will be more stable etc.she was potty trained when she was 2 and stopped wetting at night very soon after that. she has continued to have 'accidents' during the day only which a urologist has done an ultra sound scan and says her kidneys and bladder are normal and a lot of girls have an incontinence problem and again dont worry about it til she is around 8yrs old.although writing is difficult for her and not to the standard her academic abilities suggest it should be it is improving at an alarming rate which suggests to me only positives. she will not even attempt to sit on a bicycle so we can try and assess her gross motor skill abilities (her cautiousness remains but with all things in life she hates anything new and previously untried even certain brands of chocolate if she hasnt seen them before! I am not suggesting any social problems i.e autism etc!) My concerns are that she has been incontinent alot more frequently sometimes several times a day and I have been with her when this has happened and it doesn't now only occur when she is engrossed with something which always seemed to be the case before, I know if we pressure her, her anxiety can have the opposite effect than that which we want and it can increase her incontinence and so I have tried many tacts, it seems to come in waves, she can go long periods with no problems and then like recently its a daily occurrance.I have checked her urine and there aren't any nitrates, leucocytes, protein, it isn't offensive, it can occasionally be a deeper shade of yellow than you'd like suggesting she isn't drinking enough.I have been told to look for any signs of progression seen as we don't have a true diagnosis we dont have a prognosis and so I am praying that this is not one of those signs. I am very reluctant to commence a medication to help prevent incontinence in a 5 yr old child with the sole reason being she has ataxia and she wets herself alot! as my instinct tells me she is a 5yr old girl who wets herself who happens to also have ataxia! She doesn't take any medication. I guess it is the lack of precise diagnosis /prognosis that frightens me. the whole internet search is an horrendously frightening experience! I want the impossible and someone to run a trillion tests and assure me she has cerebral atrophy causing an ataxia because and then I know what we are dealing with. when she was 6 weeks old and she went hot and floppy (i was out for the first time in a year celebrating my birthday and on checking my phone to find a million texts and missed calls i arrived home to find an unwell baby)I stripped her, tepid sponged her, gave her calpol and forced fluids on her. my husband insisted I take her to casualty which I still to this day regret doing as I knew she was going to be ok and responding to my interventions.but seen as i was a little (!) intoxicated (but what a sobering experience) i agreed, she was admitted they attempted 3 cannulations before successful in the paediatric unit took bloods and gave a bag of fluid, we went home the next morning with a slightly raised white cell count and a ?bronchilitis diagnosis. she was right as rain no meds were given no cough + fed well, definately nothing to suggest either the 'floppy' experience (which was definately not a febrile fit) or the hospital interventions could have been the catalyst.The only other not quite the run of the mill thing that has happened was during pregnancy I had an amniocentesis after the downs syndrome blood test at 16weeks came back as high risk, again a full genetic test was performed and all came back as negative. I stumbled on this site when I googled ataxia and urine incontinence. and i really find it very interesting and it would be nice that whilst I am prying into other peoples medical dilemmas some neurologist/ataxic sufferer etc with an interest in my daughters symptoms should happen to read and offer some valuable advice. I know this was extremely long and I thank anyone who has taken the time to read it but I plead that I do not recieve anymore antenna replies lol! xx
    Bluerabbit 14 Replies Flag this Response
  • Your daughter's diagnosis is CACH? Is this the cause of the atrophy and ataxia? I have googled CACH and what ever has caused the atrophy and ataxia I don't believe that is it.mainly it has never been mentioned that there are any myelin issues and certainly no retardation. Thanx for the reply though! I hope it is another diagnosis I can rule out.i know i keep making the mistake of saying she was diagnosed with cerebral atrophy when in fact it's a symptom/finding of something else which i guess although i've never thought about it before the main cause is very important in ensuring an accurate prognosis! x
    Bluerabbit 14 Replies Flag this Response
  • I am a registered nurse and mother of 2 girls. When my eldest was almost 3 I finally persuaded a paediatrician that I was not suffering from a munchausen problem and wanted my child's instability taken seriously. Within 2 minutes of being in the neurologists clinical room she diagnosed my daughter as having Ataxia, a lack of control to her voluntary muscles. An MR scan revealed she had cerebral atrophy, although apparently fully formed her cerebellum had shrunk, we have no idea why, I had a 'normal' pregnancy and delivery and she never suffered an illness or injury which would suggest this. Anyway, my daughter is intelligent, sociable, beautiful! she falls over alot, can't jump or stand still, has a very mild slur to her speech which most people don't seem to notice and put it down to an impediment or childishness! I had some dark moments and stopped reading up on the diagnosis as I was convincing myself that my precious daughter was going to be in a wheelchair in her teens/early twenties. We haven't been given a prognosis and she has remained relatively stable / no obvious worsening of symptoms. My concern at the moment is she is frequently having urinary incontinence which is becoming much more frequent. My instinct tells me it is because she is a dreamy little girl who would rather play than go to the toilet and her bladders immaturity stops her from holding it for as long as she attempts to! But, there is a nagging feeling that this is a progression.......her bladder 'muscle' isn't under the same control as it was and I am so frightened that this is something she cannot help and the disease or whatever has caused this was not a one off accident which has left its mark but a progressive degenerative disease. I do not know anyone who has a ataxia and I'm useless at searching the net! is there anyone out there who knows anything about a link between cerebral atrophy/ataxia/urinary incontinence?Thanx a concerned desperately trying to refrain from being neurotic mother!Hi ThereYou are not neurotic you are her mother you know your child the best.....I hope I can offer a suggestion that will be worthwhile looking at..........Your daughter may have a B12 deficiency as it can cause atrophy of the brain /ataxia and urinary incontinence and a massive bunch of other things including speech problems ......I have this and so do my children......Perhaps you could suggest having her tested you may think they would atumatically do this but it is very often not the case.........There can be inborn errors that little ones are born with....I would suggest all of the following tests not just serum B12 as levels can be normal and you can still have a deficiencyB12 serumHolotranscobalaminUMMA- crucialHomocysteine-crucialRed Cell FolateIron studiesCBCItt can be easily treated and most symptoms can be reverted..........It may be very worth the while to check it out this one is worth searching on the net......The very very best of luck to you and your little one
    Rainbows End 227 Replies Flag this Response
  • Hi ThereYou are not neurotic you are her mother you know your child the best.....I hope I can offer a suggestion that will be worthwhile looking at..........Your daughter may have a B12 deficiency as it can cause atrophy of the brain /ataxia and urinary incontinence and a massive bunch of other things including speech problems ......I have this and so do my children......Perhaps you could suggest having her tested you may think they would atumatically do this but it is very often not the case.........There can be inborn errors that little ones are born with....I would suggest all of the following tests not just serum B12 as levels can be normal and you can still have a deficiency B12 serumHolotranscobalaminUMMA- crucialHomocysteine-crucialRed Cell FolateIron studiesCBCItt can be easily treated and most symptoms can be reverted..........It may be very worth the while to check it out this one is worth searching on the net...... The very very best of luck to you and your little one Thank you for your helpful reply rainbowsend.I have had a quick google and journal scan on B12 deficiency associated with ataxia and cerebral atrophy and it is certainly something I will discuss with the neurologist when we visit in a couple of weeks.I not so long ago read a journal on Gluten and the reseach findings on some ataxic people when they followed a strict gluten free diet were outstanding, my neurologist didnt give this any consideration when i briefly mentioned it and I felt asthough I was being daft, kind of clutching at straws!I have been rather encouraged by this web site to ask more questions as the neurologist said nothing would be able to be done about the atrophy, it has happened and we now just have monitor that it isnt worsening, but your B12 deficiency advise led me to a journal that showed marked improvements to a young child (who was a lot worse than my daughter) and seeing the scan there was a huge difference in the brain repairing itself. so again I thank you for the reply and it gives me hope that there may indeed be avenues in which we should be exploring.x
    Bluerabbit 14 Replies Flag this Response
  • Thank you for your helpful reply rainbowsend.I have had a quick google and journal scan on B12 deficiency associated with ataxia and cerebral atrophy and it is certainly something I will discuss with the neurologist when we visit in a couple of weeks.I not so long ago read a journal on Gluten and the reseach findings on some ataxic people when they followed a strict gluten free diet were outstanding, my neurologist didnt give this any consideration when i briefly mentioned it and I felt asthough I was being daft, kind of clutching at straws!I have been rather encouraged by this web site to ask more questions as the neurologist said nothing would be able to be done about the atrophy, it has happened and we now just have monitor that it isnt worsening, but your B12 deficiency advise led me to a journal that showed marked improvements to a young child (who was a lot worse than my daughter) and seeing the scan there was a huge difference in the brain repairing itself. so again I thank you for the reply and it gives me hope that there may indeed be avenues in which we should be exploring.xHi Your most welcome and I have since read another of your posts the longer one.....And while it could be gluten she should be tested for it and just be persistant about dont let the doctors intimidate you esp neuros......Something kinda suggests to me from your posts its more than gluten and I really suggest you do get those b12 tests done esp the UMMA and homocysteine as she may have a inborn error in metabolising B12 and Folate she may not be methlylating and so she will get a build up of homocysteine which can cause cardio problems.....I would suggest you search methylmalonic aciduria and homocystinuria........Now I am in no way suggesting your daughter has autism not at all but b12 has also been connected to autism problems even though the levels are normal they respond to it perhaps suggesting they are poor methylators.......The best thing about it all is it can be treated that is why it needs to be explored as soon as you can and if your doc wont do it you keep going until you find one.....As you know the atrophy has to have a cause and it needs to be found......may I ask are you vegan or vegetarian..did you have any extreme post natal depression........I am not a vegetarian I eat lots of food with B12 took folate iron with my babies but had preeclampsia which we now think was connected to my deficiency I said to my doctor maybe my children didnt get enough he said more like I passed on a genetic thing to them...I also suffered with postnatal depression that wouldnt go away another symptom......I have had this my whole life partail errors they say i suffered with many tonsillitis things and fatigue as a child was always told I was low in iron but not anemic even when I was young adult,,,,,,i had terrible anxiety then and depression again......It is easy to put symptoms done to oh well thats there age ect I did this with my children but the bells rang when I seen a few grey hairs in my sons head and my daughter was just irratable and would have out bursts of anger just thought typical age behaviour my son was very anxious just thought well he has been around me and just learnt that from me I had one doctor tell me that and while that can be true I felt something inside me and insisted they get bloodwork I was seeing a different doc as mine was away at the time I had already been diagnosed at the time my children came back with it too.what symptoms they did have are improving and the learning concentration in my son has vastly improved..... my son is also very flat footed and my daughter slightly my son would also walks oddly I began to notice rather heavy footed and leaning slightly forward he had gait problems but he has improved My mum and sister have it to and my dad is responding well to injections......of Methylcobalamin...My doctor didnt use the other forms as he said if you have problems methylating they will be useless.......We have injections and sublinguals and cofactors......The process of B12 is very complicated and complex and many things can go awry in its process preventing from doing what it should........Also a lot of doctors still believe you must have anemia to have it this is not so...Signs of regression in childern should be notedHere are some red flags in deficiency of children infants teenagers....: movement problems, including difficulty in walking or writing: mental changes- irratability,altered mood ,poor memory,flat emotional tone,autistic like withdrawl: vision abnormalities/problems:slowed weight gain and height gain: leg pains or other abnormal sensations: fatigue: enlarged smooth beefy red tongue: loss of prec acquired speech, language,motor, and or social skills: loss of apetite: an abnormally small head circumference in toddlers and babies: apathy lethargy:involuntary movements such as arm waving in babies and toddlers: grey hairs: areas of hypopigmented skin or vitigloWishing you well
    Rainbows End 227 Replies Flag this Response
  • Hello- My son is 8 now almost 9. Like your daughter no birthing issues. Age 3 I began the quest to figure out why his gait was so off, speech delayed. In 2008 he began being treated at Johns Hopkins Kennedy Krieger Institute (KK) in Baltimore, MD. A MRI revealed significant cereberal deterioration; from a tight mass in 2006 to almost spider web looking. My son has been identified as having Ataxia and Cereberal Atrophy. Docs have been able to diagnose him. He has been thru many test and some evasive to no avail. KK is now clinically treating him as they have basically run out of options for diagnosing him. My point here is your daughter displays the same symptoms as my son. My son has began to have many more accidents. I hope you receive this and we can continue to compare our children and hope it helps their doctors to narrow down the diagnosis tree..Wishing you the best..Megan
    Anonymous 42789 Replies Flag this Response
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  • Am facing a similar problem. My son, aged 2 years 2 months has been diagnosed of diffuse cerebral atrophy after we took him for occupational therapies following his delays to achieve childhood development milestones.Bluerabbit, I kindly request you to tell me how your daughter is now faring after those 5 years?
    Anonymous 1 Replies
    • February 5, 2016
    • 03:17 PM
    • 0
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