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    Case of the Day
    Hypophosphatasia (lethal perinatal form)

    Modality: X-Ray Modality: X-Ray Modality: X-Ray Modality: X-Ray Modality: X-Ray

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    Go to the top of the page ID: 20050802100900
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     Hypophosphatasia (lethal perinatal form)   
     Available images: There are X-Ray images available for this case. [ X-Ray ]   
     Author/s:

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

     
     Email Address:

    Viewable for logged on visitors (Log on)  

     
     Age:

    0 Years  

     
     Gender:

    Female  

     
     History:

    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.  

     
     Pathomorphology 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.  

     
     Radiological 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

     

     
     Diagnosis confirmation:

    Genetics  

     
     Which DD would be also possible with the radiological findings:

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

     
     Course / 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.  

     
     Comments of the author about the case:

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

     
     First description / History:

    First described by Rathbun 1948  

     
     Literature:

    Kuhn/Slovis/Haller
    Caffey`s Pediatric Diagnostic Imaging
    Volume 2
    Mosby 2004

    G.Benz-Bohm
    Kinderradiologie
    Thieme 2005

    Schinz
    Radiologische Diagnostik im Klinik und Praxis
    Band! VI Teil 1
    Thieme 1989

    Schuster/Färber
    Kinderradiologie 1
    Springer 1996  

     
     Region-Organ:

    Generalized diseases  

     
     Most likely etiology:

    congenital  

     
     Available images: There are X-Ray images available for this case. [ X-Ray ]   
    More cases from these authors: Search T. Haufe in Medline T. Haufe (4)     




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