Help! Huge undiagnosed sacral dimple, abnormal gait, 2YO

[ellemenope]

The other day I was having a light conversation about the kids with my sister and she mentions her daughter's second "butt-hole."  Even before looking at it I knew what it was.  Don't ask me how.  But, there it was about an inch back from her anus, a deep hole.  My sister claims that nothing has ever been brought up about it.  Certainly, not a single scan or ultrasound performed.  But, she thinks the doctors have never even "caught" it.  I am not actually sure what my sister thought it was, but now she is concerned.

What is scary is that way before this discovery I have been concerned about DN's gait.  She shuffles her feet like a penguin, trips on everything, and when she runs, her legs flail out to the side of her body.  She has an odd way of propelling herself around.  It is very lungey and abrupt.  Also, she has very little butt, the tiniest hips, and legs that seem tiny and shorter than seems proportional.  Now, she is a petite little girl, so all of this might be normal for her...and then maybe her stature might explain the abnormal gait???  Honestly, regardless of anything coming of this sacral dimple, we all worry about what might come of DN's odd body movements.

DN (24 months) is due for a checkup, so obviously my sister is trying to get her in ASAP to discuss the sacral dimple, but I feel like she needs to be armed, because DN is on state insurance and these doctors have already missed it which pisses me off.  Is it odd that this was missed?  Would it be something the doc checks out without ever telling the mom?  Am I right to think it deserves a scan?  If so, I want to make sure my sister does not leave the clinic without a referral.

It is deep.  It looked really deep to me, and when my sister "probed" it she commented, "it is like it goes on forever."

TIA!

[sbgrace]

I agree she needs seen and referred to a specialist for testing.

I can't search any old threads on this topic with the new system but I pm'd someone (KatWrangler) who I believe will have thoughts for you. She's offline right now. I hope she responds soon to tell you what type of specialist and testing she needs.

I'm certain she needs testing. I'm just not sure at this age what they do (Im thinking MRI) and I'm not sure who the initial specialist to evaluate would be (I think pediatric neurosurgery deals with this sort of thing).

The thing is, if it is a spinal cord issue (like tethered cord), damage happens as the child grows so you want fast assessment and action. Ugh. I wish I knew more.

I'd be concerned yes. I think your sister needs to push for a referral, yes. I wish I knew who she wants.

[Panserbjorne]

Originally Posted by sbgrace 

I agree she needs seen and referred to a specialist for testing.

I can't search any old threads on this topic with the new system but I pm'd someone (KatWrangler) who I believe will have thoughts for you. She's offline right now. I hope she responds soon to tell you what type of specialist and testing she needs.

I'm certain she needs testing. I'm just not sure at this age what they do (Im thinking MRI) and I'm not sure who the initial specialist to evaluate would be (I think pediatric neurosurgery deals with this sort of thing).

The thing is, if it is a spinal cord issue (like tethered cord), damage happens as the child grows so you want fast assessment and action. Ugh. I wish I knew more.

I'd be concerned yes. I think your sister needs to push for a referral, yes. I wish I knew who she wants.

agreed.  the earlier this is assessed the better, but I'm at a loss in trying to understand how this hasn't been seen?

[deditus]

Yes, she needs to be seen. I have heard of hcp with various levels of concern. My dn has a sacral dimple and when my SIL brought it up to the doc (after I told her what it was) he said it was fine (no testing) It had been noted in her chart, however they never mentioned it to my SIL at birth or WBV. My cousin's ds has one and his ped did a scan right away (like within a few weeks of birth). So while I 100% agree that it needs further investigation, be prepared for the need to press for it and switch providers if need be.

[sbgrace]

Does state insurance cover children's hospitals for her? I would hope/expect they would be more aware and be able to get a child into someone who deals with this faster. Our children's hospital has clinic hours to see a pediatrician and then, in my experience, they can get you to the right people fast.

[Panserbjorne]

Originally Posted by deditus 

Yes, she needs to be seen. I have heard of hcp with various levels of concern. My dn has a sacral dimple and when my SIL brought it up to the doc (after I told her what it was) he said it was fine (no testing) It had been noted in her chart, however they never mentioned it to my SIL at birth or WBV. My cousin's ds has one and his ped did a scan right away (like within a few weeks of birth). So while I 100% agree that it needs further investigation, be prepared for the need to press for it and switch providers if need be.

true, but it also depends on other symptoms (or lack thereof) and the location and depth.

[ellemenope]

Thank you so much!  First of all I looked at the dimple again today.  It is not as deep as I initially thought.  If you spread the cheeks you can see all of it.  It is almost exactly an inch back from the anus right on the mid line.  I don't know what my sister meant now when she said it goes on forever. 

And, I know nothing about her insurance other than that it is the free coverage that otherwise uninsured children get in this state.  They go to a county clinic for checkups.  My sister is concerned, but still has not scheduled an appointment, so not that concerned apparently.  But, we talked again today, and she told me again that she would get an appt ASAP.  There is only so much I can say before I start to look like the family loon.  I definitely reiterated how if it is something, it is only going to get worse as DN grows.  My mom, thinks it is no big deal.

I have no idea how it would go unnoticed.  Perhaps, it has already been deemed benign without my sister knowing.  My sister just always thought it a nuisance to clean out the hole at every poopy diaper change.  My mom, who changes her diaper the most now had never even noticed it.

I remember they had commented on her clumsiness at her 18 month appt, and the doc said something like "c'mon she just started walking.  Give her a break."  For the record she started walking at 10 months and has been on par with my DD with gross motor skills for awhile now even being 6 months younger.  She is just uncoordinated about it and falls down all the time.  She must fall down 200 times a day.  She runs through things.  Does not side step.  Does not step over things.  She either barrels through or trips over.  And, again, when she walks around, it is very odd.  My mom has said it reminds her of those geishas running around...only if they also tripped over everything.  I was watching her run today, and it seems to me like one leg in particular flails out more than the other.  She has tiny legs, and big feet.  She is off the charts short, and has size 8 feet.   So, again, sometimes I think she just has odd proportions to work with right now.

She has not tried to potty train yet, so I have no idea about bladder or bowel control. 

Thanks again.  I will keep you updated.  I hope it is nothing.

[A&A]

Have they had her vision checked?  My dd fell down a lot but it was a vision issue (and we didn't know it was until we happened to get that checked.)

[KatWrangler]

I am sorry to getting to this thread so late.  My apologies. 

It certainly sounds like something I would have checked immediately by a specialist (Pediatric Neurosurgeon).   What you are describing could be symptoms of Tethered Spinal Cord.  They will most likely want to do an MRI.

My oldest daughter has Lipomyelomengocele and Tethered Spinal Cord, Neurogenic Bladder and Bowel.  If a child has a tethered spinal cord, as the child grows the cord is stretched and stretched.  In turn the nerves to the spinal cord are damaged.  Most often once the damage is done, it won't come back and the child will lose or have diminished function of whatever nerves are effected.   The spinal cord should float freely in the spinal column (excuse my terms I am a Mom and not an MD.)

Here is a diagram of what body functions with the spinal cord.

http://www.amcchiropractic.net/cms/files/VertebralSubluxationandNerveChart_0.jpg

Is your DN potty trained yet?  Is she falling down alot (more than usual toddler falling)?  Does she complain of back pain?

PM me if you have any questions.  I have tons of information I can point you to.

[KatWrangler]

Another thing.  A dimple, hairy patch or hemangioma at the base of the spine can be a symptom of Tethered Spinal Cord and or Spina Bifida Occulta.  My daughter was born with a hemangioma at the base of her spine.  The Ped blew us off that it was nothing.  But in fact it was/is something.

[annjo]

Many babies are screened shortly after birth with a spine ultrasound if they have a "sacral dimple" because they can be associated with spinal cord abnormalities. Not all dimples are equal. The ones that are most concerning are, of course, the deeper ones. I think many peds have a low threshhold for doing an ultrasound because it's a relatively simple test and involves no sedation or radiation. My daughter had a "dimple" and was referred for an ultrasound. It was normal. The majority of newborn spine ultrasounds that I have seen, as a radiologist, are normal. However, if there is any concern about a tethered cord or other spinal lesion, an MRI will be recommended. At DN's age, if imaging would be performed, they would go right to MRI because ultrasound of the spine is not an option beyond the first few months of life. I would certainly have the ped specifically address the dimple and get their thoughts. Even if the dimple is not felt to be of great concern, a pediatric orthopedist might play some role in assessing a gait abnormality.
Good luck to you!

[mmhinton]

My ds2 has a sacral dimple and the doctors FREAKED out when he was born (made me/us worry way more than necessary!). BUT, they also did do all the appropriate tests/scans to assure that it was not tethered and/or no other issues. His pedi checks at each well child check up and/or asks about his skills/functions.

I would really push for your sister to have your DN checked and/or referred to any and all appropriate specialists. Also, even if the sacral dimple is "just" a dimple, I would ask for an evaluation by a Physical Therapist to assess DNs motor skills - it may be that she is just "growing into" her body/proportions, but it would be alot better to have a professional check to assure that she does not need therapy!

As with most stuff, the earlier something is caught / intervention is started, the more successfully it can be treated!! (and, as pp mentioned, if it is indeed a tethered cord, the damage done by growing will very likely be permanent damage :( 

Good luck with trying to help your sister with this!