Unusual diseases, disorders, syndromes. What have you seen?? - page 2

We have a really nice pulmonologist where I work and he was telling me about RITE Syndrome. I said what the ____is that?? He said Roach in the Ear. The can't go backwards so you see it pretty... Read More

  1. by   amy
    Last edit by amy on Jul 3, '02
  2. by   NurseDennie
    A few years ago, I did a little research on rabies, and there had been at that time, only ONE reported case of a human surviving rabies, and the jury was out as to whether he'd REALLY had rabies at all.

    One of my best friends, anyway, I greatly admired and loved her, died of Creutchfield-Jakob disease. I spelled that wrong, I know.


  3. by   kids
    Originally posted by Yeti1313LPN
    ...this baby had prune belly syndrome... basically he had no abdominal muscles... you could see his guts basically hanging out with only the skin holding it in...and... the baby only had one kidney... where the other one should have been was a giant fluid filled cyst...--barbara
    HEY!!! I know this one...

    Early Urethral Obstruction Sequence...from Smith's Recognizable Patterns of Human Malformation 4th Edition page 562 (gross/cool reading/pics)...
  4. by   SaturnGirl
    A few years ago my dad had something wrong with his face. You could almost WATCH the flesh just dissolving slowly on his jaw. He went to the dr. one day. The doc called Atlanta and someone from the CDC was en route to the hospital immediately. I can not, for the life of me, recall the name of it, but it was akin to a necrotizing flesh-eating bacterial infection. It was just SO weird to watch it progressing, hour after hour. He recovered from it after 6 months of IV antibiotics.
  5. by   kids
    Originally posted by RNinICU
    ...She had only one eye, imbedded in just a hole in the middle of her forehead, and had no nose. She looked perfect from the mouth down, but had only one lung, one kidney, and only the left side of her heart...

    holoprosencephaly sequence (Smith's page 546)...defect occurs in the 3rd week of developement.
  6. by   NurseLKY
    The weirdist thing i have ever seen was a man with a flesh eating disease. It ate his face from his eyebrows to his upper lip. He had to have his eyes removed. It looked like someone took an ice cream scooper and scooped out his face. The amaing thing is he went through many surgeries and now has a face that is magnetic and hooks to clips that drs implanted. He has been on Ripleys believe it or not and Maury. If you want to see pictures go to my hospital website. www.ulh.org
  7. by   delirium
    Like the ice cream scooper analogy. That really puts me in the mood for a sundae right about now.

    Kids-r-fun: You've intrigued me enough to want to get that book. Anyway you could post the ISBN number?
  8. by   NRSKarenRN
    Nurse LKY.....you win the prize!!!!!

    Never saw anthing that facially deformative in my 25 yr career.
  9. by   Ted
    Originally posted by NRSKarenRN
    Nurse LKY.....you win the prize!!!!!
    Yep, second that one. Went to the web site and saw the pics.

    Although . . . I never saw a baby with no abdominal muscles.

    Also, the example by "RNinICU" is an amazingly sad case too.

  10. by   micro
    steered clear of this one, because I was and am actually part of some medical textbooks myself........pics and diagnosis and all..........

    have to be there to understand it........

    but then again.....I know how lucky or blessed I have been as I am very healthy, very alive and very able to live a productive life..................

    love to all
  11. by   prmenrs
    My wierd one is "Ondine's Curse"--named after the ?Greek/Roman myth of the person cursed to never be able to go to sleep. In this case, the baby would become apneic whenever she went to sleep unless she was on a ventilator. Put a few gray hairs on MY head!! The mother did not want her to have a trach, so they tried various iron lung type devices until she could see that they weren't going to work, then she let us trach the kid. went home, and whenever she went down for a nap or to sleep, she went on a ventilator.

    Smith's Recognizable Pattern's of Human Malformation, author, Kenneth Lyon Jones, MD; ISBN # 0-7216-6115-7, ~$79.00 @amazon.

    Dr. Jones is the dysmorphologist @ UCSD; we get a free copy every time there's a new edition!!
    Last edit by prmenrs on Jun 7, '02
  12. by   kids
    Originally posted by MsPurp
    Kids-r-fun: You've intrigued me enough to want to get that book. Anyway you could post the ISBN number?
    ISBN for the 4th Edition is 0-7216-2359-X

    Amazon.com carries the 5th Edition for $79...try this link:


  13. by   kids
    Originally posted by prmenrs
    Dr. Jones is the dysmorphologist @ UCSD; we get a free copy every time there's a new edition!!

    *sigh* I really want the new one.

    Gross but facinating.

    Look up Cat Eye syndrome (4th edition-pg 62... says there are 40 known cases)...my husband has many of the common characteristics...coloboma, anal atresia (repaired), preauricular tag, mild hypertelorism but has an IQ of 128. Refuses to have any kind of testing, wont allow me to contact Dr. Jones. Has one child (no characteristics) and will have more only over my dead body (I have a TAH) so he doesn't see any point in putting himself in a goldfish bowl.