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    Go to the top of the page   ID: 20030805114418 Original case in english  More links about this topic on Pubmed (PubMed Reader)
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    Osteopetrosis (infantile, malignant Type), Marble Bone Disease
    J Blöcker, G Hahn. Osteopetrosis (infantile, malignant Type), Marble Bone Disease. PedRad [serial online] vol 3, no. 8.
    URL: www.PedRad.info/?search=20030805114418


     
     Pediatric Radiology CasesImages to this case: There are X-Ray-images available for this case. [ X-Ray ] View all modalities [ All ]   
     Pediatric Radiology CasesAuthor/s:

    J. Blöcker, G. Hahn (Dresden)  

     
     Pediatric Radiology CasesEmail Address:

    Viewable for logged on visitors (Log on)  

     
     Pediatric Radiology CasesAge:

    14 Weeks  

     
     Pediatric Radiology CasesGender:

    Female  

     
     Pediatric Radiology CasesRegion-Organ:

    Generalized diseases  

     
     Pediatric Radiology CasesMost likely etiology:

    congenital  

     
     Pediatric Radiology CasesHistory:

    Fourteen week old female where blindness was noticed. Ophthalmologist found an atrophic optic nerve. Further examination showed the following:
    - nanism
    - anemia
    - hepatomegaly  

     
     Pediatric Radiology CasesPathomorphology or Pathophysiology of this disease :

    - Autosomal recessive disorder
    - Osteoclast insufficiency --> the breakdown of the mineralized cartilage and bone matrix is disturbed, even though bone constuction is normal. The bone's inner compartments are filled with bony structures, and the bone marrow is repressed.  

     
     Pediatric Radiology CasesRadiological findings:


    /tn/20030805114418--1.jpg" border="0" alt=" align="left" vspace="1" hspace="10"> X-ray" align="left" vspace="1" hspace="10"> <- view > X-ray

    > X-ray 1: Hand/forearm a.p.: Obvious increased sclerosis, marrow is not marcated, frayed metaphyses particularly distal. The bone seems to be surrounded unevenly by thicker and thinner bone tissue - "bone-in-bone-appearance"


    X-Ray 2 <- view X-Ray 2

    X-ray 2: Skull a.p.: Sclerosis of the skull and base, emphasis of the orbital edges - "Mephisto Mask" -, the jaw is not affected, increased sclerosis of the shown thorax apeture, the thoracic vertebral bodies as well as the cervical vertebral bodies; The hyoid bone is already calcified.






    X-Ray 3 <- view X-Ray 3

    X-ray 3: Skull lateral: Sclerosis of the skull and base, emphasis of the orbital edges - "Mephisto Mask" -, the jaw is not affected, increased sclerosis of the shown thorax apeture, the thoracic vertebral bodies as well as the cervical vertebral bodies; The hyoid bone is already calcified.



     

     
     Pediatric Radiology CasesDiagnosis confirmation:

    Total constellation (Consens)  

     
     Pediatric Radiology CasesWhich DD would be also possible with the radiological findings:

    The skull findings are pathognomonic.
    In diffuse osteosclerosis:
    -hematological illnesses (Osteomyelofibrosis, Gaucher's disease)
    -toxicosis
    -hypervitaminosis  

     
     Pediatric Radiology CasesCourse / Prognosis / Frequency / Other :

    Before the bone marrow transplant, no child survived the first decade of life. A pathophysiologic unclear rachitis can also occur. After successful bone marrow transplant, a complete normalization can be seen. Occurring nerval paralysis remains.  

     
     Pediatric Radiology CasesComments of the author about the case:

    In the sense of "duplicating experiences," a second case of this rather rare disease was diagnosed in our institution within a half of a year.  

     
     Pediatric Radiology CasesFirst description / History:

    N/A  

     
     Pediatric Radiology CasesLiterature:

    1. Medline: Medline
    M.Reiser, E. Peters
    Radiologische Differentialdiagnose der Skeletterkrankungen
    Georg Thieme Verlag; 1995

    2. Medline: Medline
    J.W. Spranger, P.W. Brill, A. Poznanski
    Bone Dysplasias
    Urban und Fischer; 2002

    3. Medline: Medline
    Schinz
    Radiologische Diagnostik in Klinik und Praxis, Band IV - Teil 2
    Georg Thieme Velag; 1991  

     
     Pediatric Radiology CasesKeywords:

    Marble Bone Disease, generalised sklerosis, Osteochondrodysplasia, Osteopetrosis, infantile, malignant type, marble bones, child, childhood, pediatric radiology  

     
     Pediatric Radiology Cases Cite this article:

    J Blöcker, G Hahn. Osteopetrosis (infantile, malignant Type), Marble Bone Disease. PedRad [serial online] vol 3, no. 8.
    URL: www.PedRad.info/?search=20030805114418  

     
     Pediatric Radiology Cases Read similar articles: with corresponding keywords
    in the same field: Generalized diseases
    or in the region: Generalized diseases
    or in the tissue/organ:
    or with the etiology: congenital
     
     Pediatric Radiology CasesImages to this case: There are X-Ray-images available for this case. [ X-Ray ] View all modalities [ All ]   
     
    Osteopetrosis (infantile, malignant Type), Marble Bone Disease
    J Blöcker, G Hahn. Osteopetrosis (infantile, malignant Type), Marble Bone Disease. PedRad [serial online] vol 3, no. 8.
    URL: www.PedRad.info/?search=20030805114418


     

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    Osteopetrosis (infantile, malignant Type), Marble Bone Disease
    Other cases by these authors:

    Search J. Blöcker in Medline J. Blöcker (2)   
    Search G. Hahn in Medline G. Hahn (22)   

    Osteopetrosis (infantile, malignant Type), Marble Bone Disease  
     
    Osteopetrosis (infantile, malignant Type), Marble Bone Disease
    J Blöcker, G Hahn. Osteopetrosis (infantile, malignant Type), Marble Bone Disease. PedRad [serial online] vol 3, no. 8.
    URL: www.PedRad.info/?search=20030805114418


     

    Which diagnosis have other collegues guessed?


    • McCune-Albright-Syndrome
      Votes: 4 (25 %)


    • Osteopetrosis
      Votes: 10 (62 %)


    • Osteochondrodysplasia
      Votes: 0 (0 %)


    • Cortical Irregularity Syndrome
      Votes: 2 (12 %)



        Total answers: 16

     
    Osteopetrosis (infantile, malignant Type), Marble Bone Disease
    J Blöcker, G Hahn. Osteopetrosis (infantile, malignant Type), Marble Bone Disease. PedRad [serial online] vol 3, no. 8.
    URL: www.PedRad.info/?search=20030805114418


     

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    Osteopetrosis (infantile, malignant Type), Marble Bone Disease
    J Blöcker, G Hahn. Osteopetrosis (infantile, malignant Type), Marble Bone Disease. PedRad [serial online] vol 3, no. 8.
    URL: www.PedRad.info/?search=20030805114418


     




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