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    Go to the top of the page   ID: 20050802100900 Original case in english  More links about this topic on Pubmed (PubMed Reader)
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    Hypophosphatasia (lethal perinatal form)
    T Haufe. Hypophosphatasia (lethal perinatal form). PedRad [serial online] vol 5, no. 8.
    URL: www.PedRad.info/?search=20050802100900


     
     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:

    T. Haufe (Radiologie im Städtischen KH Dresden-Neustadt)  

     
     Pediatric Radiology CasesEmail Address:

    Viewable for logged on visitors (Log on)  

     
     Pediatric Radiology CasesAge:

    0 Years  

     
     Pediatric Radiology CasesGender:

    Female  

     
     Pediatric Radiology CasesRegion-Organ:

    Generalized diseases  

     
     Pediatric Radiology CasesMost likely etiology:

    congenital  

     
     Pediatric Radiology CasesHistory:

    Mature hypotrophic newborn with very soft, elongated calvarium (Caput papyraceum), atypical horizontally oriented skinfolds along the upper and lower extremities.
    Decreased concentration of the serum alkaline phosphatase.
    Intubation and ventilation necessary due to increasing respiratory insufficiency. Exitus letalis at the day 15 due to respiratory insufficiency.  

     
     Pediatric Radiology CasesPathomorphology or Pathophysiology of this disease :

    Decreased activity of the isoenzymes of alkaline phosphatase produced in the liver, cartilage and bone.
    Therefore mineralization disturbance of the osteoid with misrelation between mineralized and unmineralized osteoid.  

     
     Pediatric Radiology CasesRadiological findings:


    X-Ray 1 <- view X-Ray 1

    X-Ray 1: Head ap: peel-like skull bones; due to decreased mineralization of the osteoid, very wide distance between the less radiolucent parts of the skull.





    X-Ray 2 <- view X-Ray 2

    X-Ray 2: Arm right ap: shortened long bones; cup-like and frailed metaphyses





    X-Ray 3 <- view X-Ray 3

    X-Ray 3: Pelvis with legs ap: shortened long bones; cup-like and frailed metaphyses; slender, poorly mineralized pelvic bones





    X-Ray 4 <- view X-Ray 4

    X-Ray 4: Thorax ap: frail thoracic skeleton with loss of volume; narrow, partially shortened ribs; Platyspondyly with wide distances of the vertebral arches



     

     
     Pediatric Radiology CasesDiagnosis confirmation:

    Genetics  

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

    Rickets, Asphyxing thoracic dysplasia (Jeune-Syndrome), Tanatophore Dysplasia
     

     
     Pediatric Radiology CasesCourse / Prognosis / Frequency / Other :

    genetic confirmation of the diagnosis by detection of two mutations of the ALPL gene.
    Autosomal recessive inheritance,
    4 forms: neonatal, infant, childhood, adult.
    Frequency of the letal perinatal form 1:1000 000, so far only symptomatic therapy.  

     
     Pediatric Radiology CasesComments of the author about the case:

    Thank you very much for Prof.em.Dr.med.E.Rupprecht (Dresden/Germany)  

     
     Pediatric Radiology CasesFirst description / History:

    First described by Rathbun 1948  

     
     Pediatric Radiology CasesLiterature:

    1. Medline: Medline
    Kuhn/Slovis/Haller
    Caffey`s Pediatric Diagnostic Imaging
    Volume 2
    Mosby 2004

    2. Medline: Medline
    G.Benz-Bohm
    Kinderradiologie
    Thieme 2005

    3. Medline: Medline
    Schinz
    Radiologische Diagnostik im Klinik und Praxis
    Band! VI Teil 1
    Thieme 1989

    4. Medline: Medline
    Schuster/Färber
    Kinderradiologie 1
    Springer 1996  

     
     Pediatric Radiology CasesKeywords:

    lethal perinatal form, hypophosphatasia, alkaline phosphatase, mineralization defect, mineralizationdefect, defect, mineralization, bones, horizontally oriented skinfolds, leg, arm, head, skull, Rathbun, calvarium, Caput papyraceum, mutation, ALPL gene, shortend bones, fringed metaphyses, fringed metaphysis, child, childhood, pediatric radiology  

     
     Pediatric Radiology Cases Cite this article:

    T Haufe. Hypophosphatasia (lethal perinatal form). PedRad [serial online] vol 5, no. 8.
    URL: www.PedRad.info/?search=20050802100900  

     
     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 ]   
     
    Hypophosphatasia (lethal perinatal form)
    T Haufe. Hypophosphatasia (lethal perinatal form). PedRad [serial online] vol 5, no. 8.
    URL: www.PedRad.info/?search=20050802100900


     

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    Hypophosphatasia (lethal perinatal form)
    Other cases by these authors:

    Search T. Haufe in Medline T. Haufe (4)   

    Hypophosphatasia (lethal perinatal form)  
     
    Hypophosphatasia (lethal perinatal form)
    T Haufe. Hypophosphatasia (lethal perinatal form). PedRad [serial online] vol 5, no. 8.
    URL: www.PedRad.info/?search=20050802100900


     

    Which diagnosis have other collegues guessed?


    • Hypophosphatasia (lethal perinatal form)
      Votes: 12 (70 %)


    • Rickets
      Votes: 4 (23 %)


    • Asphyxing Thoraxdysplasia (Jeune-Syndrome)
      Votes: 0 (0 %)


    • Tanatophore Dysplasia
      Votes: 0 (0 %)


    • SALDINO-NOONAN-Syndrome
      Votes: 1 (5 %)



        Total answers: 17

     
    Hypophosphatasia (lethal perinatal form)
    T Haufe. Hypophosphatasia (lethal perinatal form). PedRad [serial online] vol 5, no. 8.
    URL: www.PedRad.info/?search=20050802100900


     

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    Hypophosphatasia (lethal perinatal form)
    T Haufe. Hypophosphatasia (lethal perinatal form). PedRad [serial online] vol 5, no. 8.
    URL: www.PedRad.info/?search=20050802100900


     




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