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Thread: Loeys-Dietz Syndrome

  1. #1
    josh'smommy's Avatar
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    Default Loeys-Dietz Syndrome

    Does anyone have an experience with Loeys-Dietz Syndrome (LDS) and cranio? Because of Josh's multiple health problems, his nsg referred him to genetics after this last surgery. We saw them today and the genetics Dr is "almost positive" that he has LDS. I told her that Dr Fearon had said that he does genetic testing at the time of surgery so she gave me the forms to give to him to have the specific test she needs. Apparently, cranio is a common finding in this syndrome? I have never heard of it and it seems like a rather new syndrome (2005). I was diagnosed with Marfan syndrome in 1998 so I guess it isn't a stretch but I've read through hundreds of posts here and have never (or at least that I remember) come across this in relation to cranio.

    I've find a few websites about it so far and surprisingly in the musculoskeletal symptoms: craniosynostosis. Hmmm...
    Jamie

    Mom to

    Nicolle (06/00)
    Kristyn (07/01)--cerebral palsy/epilepsy/PDD
    Josh (06/07)--metopic cranio
    Surgery scheduled for June 30, 2010 with
    Dr Fearon and Dr Sacco
    Chiari I Malformation decompression surgery 10/09 and Chiari revision w/ dural patch 04/10.

  2. #2

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    I think doctors have suspected that Leigh's (fullhouse) children had this syndrome...I don't know if they have ruled it out or not. ANd I could be totally wrong, but it seems like she's mentioned it in the past...
    I'm sure she'll see this post, and respond...or correct me! :)
    Mom to Camden Sagittal Cranio Kid
    Posterior CVR- Fearon/Swift
    Anterior CVR/FOA- Genecov/Weprin


  3. #3
    vancesmommy's Avatar
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    I found this syndrome a few years ago, and have wanted to have Vance tested.
    Denise
    mommy to
    David (2/25/03), Vance (12/22/04)-cleft lip,repaired 3/22/05, metopic cranio, CVR & FOA 8/23/05, & cleft palate, repaired 11/16/05, 2nd CVR scheduled for 8/29/11 and Savannah (7/16/07)

  4. #4
    josh'smommy's Avatar
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    Josh was seen by Dr. Konczal at Rainbow's Center for Human Genetics in Cleveland. She was wonderful and did a very thorough history and exam. She seems very knowledgeable of LDS and actually insisted that I come to see their team as a lot of people diagnosed with Marfan before genetic testing was a standard may actually have LDS. I'm not sure how far away this would be for you...
    Jamie

    Mom to

    Nicolle (06/00)
    Kristyn (07/01)--cerebral palsy/epilepsy/PDD
    Josh (06/07)--metopic cranio
    Surgery scheduled for June 30, 2010 with
    Dr Fearon and Dr Sacco
    Chiari I Malformation decompression surgery 10/09 and Chiari revision w/ dural patch 04/10.

  5. #5
    fullhouse3b2g's Avatar
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    Hi Jaime,

    Amy was right, my kids have been tested for Loeys-Dietz. It is really similar to Marfans and a lot of the symptoms overlap. So much so that they recommend that Marfans patients be re-evaluated for loeys-dietz. Cranio (and chiari) IS related to LDS and also Marfans, but not as common in Marfans. The main difference between the two is that with LDS there is a faster progression of the aortic defect, but surgery is more successful. With Marfans the heart tissue can be so fragile that surgery doesn't have as much success (one surgeon I read about likened stitching the heart of a marfans patient to stitching together wet tissue paper because of it's fragileness).

    I would definitely want to see a doctor again to be reassed for LDS if you have already been diagnosed with marfans. The geneticist that my family saw is actually known as the "marfans god" because of his familiarity and knowledge of marfans. He is also very familiar with Loeys-Dietz syndrome as he was one of the two doctors who "discovered" it. His name is Hal Dietz and he's at Johns Hopkins Hospital in Baltimore, MD. I'm not sure if your insurance would cover him or not, but I don't think you could get any more knowledgeable of a doctor for LDS than him!

    Let me know if you'd like any further info!
    Proud Mommy to

    Caleb -17
    Ethan -13
    Joanna -11
    Olivia -9
    Isaac -5-Metopic Cranio, no surgery;Chiari Malformation and Posterior Fossa Cyst, surgery 4/1/08 & 12/03/08; Pseudomeningocele and CSF leak, surgery 12/18/08; Multiple congenital Heart Defects, Autism, Multiple Birth Defects

    http://www.caringbridge.org/visit/i.m.lucky

  6. #6
    josh'smommy's Avatar
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    Thanks Leigh! We have been "watching" my oldest daughter for about 4 years now as she also shows a lot of the characteristics that are common in Marfan. She sees a cardiologist every year but so far her heart looks fine. Other than that, her only complaint is pain in her legs and some other random joint pain which is generally relieved with Motrin. I never would have thought about Josh having anything similar as he does not have any of the "common" Marfan characteristics. That said...when I read through the LDS list, he does have quite a few of those. I think we will start with Josh's genetic testing and then go from there. If it comes back that he does have LDS, then I'll go ahead and have everyone tested. I've been lucky on the scale of Marfan...I do have MVP w/ regurgitation and slight dilation of the aorta (only very mild just over the last few years).

    How did the testing go with your kids? Have they figured anything out?
    Jamie

    Mom to

    Nicolle (06/00)
    Kristyn (07/01)--cerebral palsy/epilepsy/PDD
    Josh (06/07)--metopic cranio
    Surgery scheduled for June 30, 2010 with
    Dr Fearon and Dr Sacco
    Chiari I Malformation decompression surgery 10/09 and Chiari revision w/ dural patch 04/10.

  7. #7
    Crazy Canuck Coronal Mama mamaroling's Avatar
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    This thread caught my eye...my maiden name is Dietz. Unfortunately, I'm starting to look at syndromes for my daughter. Today the Dr.s diagnoised multiple sutures. Bi-coronal and staggital (1st time typing it) . The neurosurgeon wants genetic testing. Where do you start?
    Last edited by mamaroling; 04-21-2011 at 11:30 PM.

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