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    Go to the top of the page   ID: 20021103134022 Original case in english  More links about this topic on Pubmed (PubMed Reader)
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    Apert syndrome with cerebellar changes
    J Stegmann. Apert syndrome with cerebellar changes. PedRad [serial online] vol 2, no. 11.
    URL: www.PedRad.info/?search=20021103134022


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

    J. Stegmann (Hamburg)  

     
     Pediatric Radiology CasesEmail Address:

    Viewable for logged on visitors (Log on)  

     
     Pediatric Radiology CasesAge:

    N/A  

     
     Pediatric Radiology CasesGender:

    N/A  

     
     Pediatric Radiology CasesRegion-Organ:

    Syndromes  

     
     Pediatric Radiology CasesMost likely etiology:

    congenital  

     
     Pediatric Radiology CasesHistory:

    Clinically, this patient presented to us with typical signs of the Apert syndrome. Previous patient history included cranial stenosis surgery.

    Presently, the patient was presented to us with cephalgia for further diagnostics with MRI. No previous MRI examinations were carried out.  

     
     Pediatric Radiology CasesPathomorphology or Pathophysiology of this disease :

    Congenital syndrome with acrosynostosis and craniostenosis.  

     
     Pediatric Radiology CasesRadiological findings:


    MRI 1 <- view MRI 1

    MRI 1: FLAIR, sagittal: Relatively small frontal lobe in the sense of a skull deformation. Obvious increase in signal in the cerebellar cortex.





    MRI 2 <- view MRI 2

    MRI 2: FLAIR, transversal: This basal slice shows the increase of signal in the cerebellar cortex predominantly basally located, but not in the white matter. Also, the medulla seems unremarkable. A certain spatial change (common after ischemia) is not seen.





    MRI 3 <- view MRI 3

    MRI 3: IR-T1 sagittal: This image is not exactly in the median line, a lack of a corpus callosum is not seen in this child. Even in the T1-weighted image, one can see the signal changes (dark) below the cerebellar cortex.





    MRI 4 <- view MRI 4

    MRI 4: T1 sagittal after contrast application: The same slice as in IR-T1 sagittal with contrast media shows no enhancement.





    MRI 5 <- view MRI 5

    MRI 5: coronal T2: This coronal image shows the increase in signals the best. Furthermore, the cerebral fluid and it's space is seen around the cerebellum - therefore, no proof of stenosis.





    MRI 6 <- view MRI 6

    MRI 6: coronal T2: This image is located further frontally and shows concurrent (which has also been described in literature) changes in
    Apert Syndrome, particularly the incomplete folding nof the hippocampus with temporal widening of the ventricles (right more than left, here only a thickening of the edge).





    MRI 7 <- view MRI 7

    MRI 7: transversal T2: This basal image shows the large surrounding subarachnoid space. No changes in signal of the medulla.


     

     
     Pediatric Radiology CasesDiagnosis confirmation:

    Total constellation (Consens)  

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

    - Pressure damage of the cerebellar tonsils in the course of the craniostenosis oreceeding surgery
    - Perfusion deficits with gliosis in the PICA-supplying regions
    - ???  

     
     Pediatric Radiology CasesCourse / Prognosis / Frequency / Other :

    N/A  

     
     Pediatric Radiology CasesComments of the author about the case:

    This case should be seen more as a question and discussion case. Who has seen such cerebellar changes in children with Apert syndrome? Who can explain this? Which other differential diagnoses would be fitting for this case?

    The child will be called back to us for follow up in 6 months.  

     
     Pediatric Radiology CasesFirst description / History:

    N/A  

     
     Pediatric Radiology CasesLiterature:

    1. Medline: Medline
    Barkovich, AJ
    Pediatric Neuroimaging, 3rd ed., Kap. 5, S. 363 ff
    Lippincott Williams & Wilkins  

     
     Pediatric Radiology CasesKeywords:

    Apert syndrome, cerebellar changes, Apert, cranial stenosis, congenital acrosynostosis, craniostenosis, child, childhood, pediatric radiology  

     
     Pediatric Radiology Cases Cite this article:

    J Stegmann. Apert syndrome with cerebellar changes. PedRad [serial online] vol 2, no. 11.
    URL: www.PedRad.info/?search=20021103134022  

     
     Pediatric Radiology Cases Read similar articles: with corresponding keywords
    in the same field: Syndromes
    or in the region: Syndromes
    or in the tissue/organ:
    or with the etiology: congenital
     
     Pediatric Radiology CasesImages to this case: There are MRI-images available for this case. [ MRI ] View all modalities [ All ]   
     
    Apert syndrome with cerebellar changes
    J Stegmann. Apert syndrome with cerebellar changes. PedRad [serial online] vol 2, no. 11.
    URL: www.PedRad.info/?search=20021103134022


     

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    Apert syndrome with cerebellar changes
    Other cases by these authors:

    Search J. Stegmann in Medline J. Stegmann (1)   

    Apert syndrome with cerebellar changes  
     
    Apert syndrome with cerebellar changes
    J Stegmann. Apert syndrome with cerebellar changes. PedRad [serial online] vol 2, no. 11.
    URL: www.PedRad.info/?search=20021103134022


     
     
    Apert syndrome with cerebellar changes
    J Stegmann. Apert syndrome with cerebellar changes. PedRad [serial online] vol 2, no. 11.
    URL: www.PedRad.info/?search=20021103134022


     

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    Apert syndrome with cerebellar changes
    J Stegmann. Apert syndrome with cerebellar changes. PedRad [serial online] vol 2, no. 11.
    URL: www.PedRad.info/?search=20021103134022


     




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