pediatric cases spot diagnosis

Discussion in 'Spot Diagnosis' started by bb100, Apr 13, 2013.

  1. bb100

    bb100 Bronze Member

    Joined:
    Jun 7, 2012
    Messages:
    450
    Likes Received:
    54
    Trophy Points:
    845

    What is this pathologic case ?

    [​IMG]
     

    Add Reply

    Attached Files:

    • 333.jpg
      333.jpg
      File size:
      89.9 KB
      Views:
      1,232
    neo_star likes this.

  2. neo_star

    neo_star Moderator

    Joined:
    Nov 4, 2012
    Messages:
    775
    Likes Received:
    184
    Trophy Points:
    1,545
    Practicing medicine in:
    India
    Re: pediatric cases

    [FONT=&amp]Diagnosis: Jeune syndrome (asphyxiating thoracic dystrophy)[/FONT][FONT=&amp] is notable for short stature, long and narrow thorax, hypoplastic lungs, fibrotic liver, and short limbs. Death is common, a result of pneumonia or asphyxia because of the abnormally shaped thorax. [/FONT]

    *****************************************************************

    Xtra Edge

    This condition is a 'ciliopathy'.

    Other famous ciliopathies - Kartagener syndrome, Bradet-Biedl syndrome, Alstorm syndrome, Situs inversus and Polycystic kidney disease.


    Discussion:
    -Autosomal-recessive illness.
    -Pathogenesis unknown.

    Typical findings:
    -short, horizontally running rib with widening of the costochondral connections; distally emphasized shortened and thickened long bones; three point configuration of the lower edge of the pelvis. Horizontal acetabula; early ossification of the femur head epiphyses
    -cystic tubular dysplasia; renal insufficiency with proteinuria and arterial hypertension; Nephronophtisis, polycystic kidney, usually starting in grade school.

    Differentials


    Other causes of narrow chest are - Ellis-van Creveld syndrome and Thantotropic dysplasia

    the very small iliac bones on the Xray, go in favor of "Jeune syndrome"
     

    Last edited: Apr 13, 2013
  3. Emergency medicine Mike

    Emergency medicine Mike Bronze Member

    Joined:
    Jul 28, 2012
    Messages:
    839
    Likes Received:
    38
    Trophy Points:
    1,245
    Gender:
    Male
    Practicing medicine in:
    Czech Republic
  4. bb100

    bb100 Bronze Member

    Joined:
    Jun 7, 2012
    Messages:
    450
    Likes Received:
    54
    Trophy Points:
    845
    Correct Answer :Thanatophoric dysplasia
     

Share This Page

<