KINDERRADIOLOGIE ONLINE - view radiology images and radiology cases
Lesen Sie diese Seite auf Deutsch   Read this page in English
The Peer Reviewed Pediatric Radiology Platform on the Web
ISSN: 1942-955X :: Publisher: EduRad ::Editor-In-Chief: Roland Talanow, MD, PhD  
Browse Browse || Search Search || Online Book Systematically Online Book Systematically || Discussion Forum Discussion Forum || News News || Submit a Case Submit a Case || Rules Rules |
Most Interesting Cases Most Interesting Cases || "Most Diligent" Authors "Most Diligent" Authors || Case of the Day Case of the Day || Teaching files Teaching files || Links Links |
Newsletter Newsletter || Start Start || Survey Survey || Your Opinion Your Opinion || My Profile My Profile || CME-Credits CME-Credits |
    Pediatric Radiology News / Ads / Jobs Get the Pediatric Radiology News as RSS feed !
    Send us your news or ads for free
  • CME Kurs: Paediatric Body MRI

  • CME course: Paediatric Body MRI

  • Universitätsklinikum Jena sucht eine Ärztin/einen Arzt in Weiterbildung in Vollzeit

  • Kinderspital Zürich sucht Oberärztin / Oberarzt (100 %)

  • Kinderradiologische Oberärztin / Oberarzt gesucht

  • 2 Stellen in der Kinderradiologie - 1 Assistenzärztin/Assistenzarzt und 1 Oberärztin/Oberarzt in Voll- oder Teilzeit

  • Senior Paediatric Radiologist in Pediatric Radiology section needed

  • Facharzt als Oberärztin / Oberarzt in Sektion Kinderradiologie gesucht

  • Stellenangebot für Assistenzarzt (m/w) zur Facharztausbildung für RADIOLOGIE und/oder KINDERRADIOLOGIE

  • „Fellow“-Stelle zur Weiterbildung in Pädiatrischer Radiologie am Kinderspital Zürich

  • Fellow-Stelle Pädiatrische Neuroradiologie

  • FFF Kinderradiologie - Muskuloskelettale Radiologie im Kindesalter (Fit für den Facharzt)

  • Assistenzarzt für Kinderradiologe gesucht an Universitätsklinikum Schleswig-Holstein, Campus Kiel

  • Turnusarzt (m/w) in Ausbildung zum Facharzt (m/w) für Radiologie

  • Assistenzarzt (m/w) zur Weiterbildung im Schwerpunkt Kinderradiologie

  • Send us your news or ads for free

    Get the Pediatric Radiology News as RSS feed !


    Radiolopolis

    The dynamic Radiology community for education, research and practice


     

    Case of the Day
    Lissencephaly Type 1

    Modality: MRI Modality: MRI Modality: MRI Modality: MRI

    View here all images of this case in different sizes !



    Go to the top of the page ID: 20080522125523
    | The authors | Discussion | Write comments about this Case |
    | Recommend this Case to a Colleague |
     Lissencephaly Type 1   
     Available images: There are MRI images available for this case. [ MRI ]   
     Author/s:

    Johannes Gossner (Institut für Radiologie/ Klinkum Braunschweig), J. Larsen (Institut für Radiologie/ Klinikum Braunschweig)  

     
     Email Address:

    Viewable for logged on visitors (Log on)  

     
     Age:

    0 Newborn  

     
     Gender:

    Female  

     
     History:

    Postpartum hypotrophic and respiratory distressed newborn (intubation required) with rapidly evolving seizures.
    Sonographically decreased sulcal pattern.
    Sibling with known lissencephaly type 1.  

     
     Pathomorphology or Pathophysiology of this disease :

    Most severe form of neuronal migration disorders (probably in 12th-16th gestational week). Current classification dpendent on when the cortical development was affected. The type 1 lissencephaly belongs to group A. In the setting of a Miller-Diecke syndrome, a monosomy 17p13 can be found, which is mostly a "de Novo" deletion or translocation.
    Without visualized chromosomal abnormality it can be found as an isolated lissencephaly or in the setting of a Norman-Roberts syndrome.
    However, even without visualized chromosomal abnormalities, in up to 40% of cases.a defect of the LIS 1 gene can be found, which regulates the neural migration by forming PAF (platelet activating factor).  

     
     Radiological findings:


    MRI 1 <- view MRI 1

    MRI 1: T2 weighted axial image with markedly decreased sulcal pattern (= pachygyria) and thin cortex. Furthermore seen is a hemorrhage into the right lateral ventricle (hypointense).

    MRI 2 <- view MRI 2

    MRI 2: T1 weighted axial image demonstrates also significant pachygyria and prominent external CSF spaces. The fluid-fluid level containing hemorrhage in the posterior horns of the right lateral ventricle is better deliniated on the T1 weighted sequence.

    MRI 3 <- view MRI 3

    MRI 3: T2 weighted axial image at the level of the basal ganglia, which appear normal.

    MRI 4 <- view MRI 4

    MRI 4: Coronal CSF suppressed T2 weighted sequence (FLAIR) also demonstrates a markedly decreased sulcal pattern.

     

     
     Diagnosis confirmation:

    Total constellation (Consens)  

     
     Which DD would be also possible with the radiological findings:

    N/A  

     
     Course / Prognosis / Frequency / Other :

    Overall poor prognosis with marked mental retardation and early, partially therpy refractary seizures. Usually the children die before they reach the second year of life. Associated malformations are frequent.
    Lissencephaly is a rare malformation. A study from the Netherlands reports 11.7 cases in 1 million newborns. Girls are slightly more frequently affected.
    The cortical surface is smooth up to the 2nd trimester. First sulci and fissures can be detected by ultrasound in the 20th gestational week. Widening of the ventricles is described to be an indirect sign of a neuronal migration disorder. If this is evident, a follow up exam and/or MRI is recommended. Image findings by MRI is indicatory.  

     
     Comments of the author about the case:

    N/A  

     
     First description / History:

    Miller 1963  

     
     Literature:

    Barkovich AJ, Kuzniecky RI, Jackson GD, Guerrinen R, Dobyns WB
    Classification system for malformations of cortical development: update 2001
    Neurology 2001; 57:2168- 2178

    Ghai S, Fong KW, Toi A, Chitayat A, Pantazi S, Blaser S
    Prenatal US and MR imaging findings of Lissencephaly: review of fetal cerebral sulcal development
    Radiographics 2006; 26: 389- 405

    Gressens P
    Mechanisms and Disturbances of Neuronal Migration
    Pediatric Research 2000; 48: 725-730

    de Rijk-van Andel JF, Arts WFM, Hofman A, Staal A, Niermeijer MF
    Epidemiology of Lissencephaly Type I.
    Neuroepidemiology 1991;10:200-204
     

     
     Region-Organ:

    Head-Brain and brain nerves  

     
     Most likely etiology:

    congenital  

     
     Available images: There are MRI images available for this case. [ MRI ]   
    More cases from these authors: Search Johannes Gossner in Medline Johannes Gossner (2)   Search Johannes Gossner in Medline J. Larsen (1)     




    Discussion >> Write Comment <<



      There are no comments available regarding this case.





     Write a comment to this case (With * marked fields have to be filled)

    Type in this number: 2923

    Name: *

    E-Mail:

    Website:

    Subject: *

    Text: *




     
      Pediatric Radiology Discussion Get the Pediatric Radiology Discussion as RSS feed !
      To the discussion forum
      To the discussion forum

      Get the Pediatric Radiology Discussion as RSS feed !

      © 2001-2019   www.kinderradiologie-online.de
      In cooperation with © Radiolopolis - Radiology Search - Radiology Teacher - PubMed Reader - Annotate - Radiology Lectures & Tutorials - Radiology Boards Preparation - Pediatric Radiology Links - Pediatric Radiology Information - Emergency Radiology - Lung Cancers - USMLE Forums - Cancer Staging Information - Chest Radiology - Radiology Case Report Journal
      For suggestions and questions: information@kinderradiologie-online.de
      Add this site to your favorites (CTRL+D)