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    Go to the top of the page   ID: 20080522125523 Original case in english  More links about this topic on Pubmed (PubMed Reader)
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    Lissencephaly Type 1
    Johannes Gossner, J Larsen. Lissencephaly Type 1. PedRad [serial online] vol 8, no. 5.
    URL: www.PedRad.info/?search=20080522125523


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

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

     
     Pediatric Radiology CasesEmail Address:

    Viewable for logged on visitors (Log on)  

     
     Pediatric Radiology CasesAge:

    0 Newborn  

     
     Pediatric Radiology CasesGender:

    Female  

     
     Pediatric Radiology CasesRegion-Organ:

    Head-Brain and brain nerves  

     
     Pediatric Radiology CasesMost likely etiology:

    congenital  

     
     Pediatric Radiology CasesHistory:

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

     
     Pediatric Radiology CasesPathomorphology 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).  

     
     Pediatric Radiology CasesRadiological 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.


     

     
     Pediatric Radiology CasesDiagnosis confirmation:

    Total constellation (Consens)  

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

    N/A  

     
     Pediatric Radiology CasesCourse / 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.  

     
     Pediatric Radiology CasesComments of the author about the case:

    N/A  

     
     Pediatric Radiology CasesFirst description / History:

    Miller 1963  

     
     Pediatric Radiology CasesLiterature:

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

    2. Medline: Medline
    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

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

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

     
     Pediatric Radiology CasesKeywords:

    Lissencephaly, neuronal migration disorder, Pachygyria, Agyria, Lissencephaly type I, Miller-Dieker syndrome, Chromosome 17p13 syndrome, Chromosomal deletion 17p13, Norman-Roberts syndrome, child, childhood, pediatric radiology  

     
     Pediatric Radiology Cases Cite this article:

    Johannes Gossner, J Larsen. Lissencephaly Type 1. PedRad [serial online] vol 8, no. 5.
    URL: www.PedRad.info/?search=20080522125523  

     
     Pediatric Radiology Cases Read similar articles: with corresponding keywords
    in the same field: Head-Brain and brain nerves
    or in the region: Head
    or in the tissue/organ: Brain and brain nerves
    or with the etiology: congenital
     
     Pediatric Radiology CasesImages to this case: There are MRI-images available for this case. [ MRI ] View all modalities [ All ]   
     
    Lissencephaly Type 1
    Johannes Gossner, J Larsen. Lissencephaly Type 1. PedRad [serial online] vol 8, no. 5.
    URL: www.PedRad.info/?search=20080522125523


     

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    Lissencephaly Type 1
    Other cases by these authors:

    Search Johannes Gossner in Medline Johannes Gossner (2)   
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    Lissencephaly Type 1  
     
    Lissencephaly Type 1
    Johannes Gossner, J Larsen. Lissencephaly Type 1. PedRad [serial online] vol 8, no. 5.
    URL: www.PedRad.info/?search=20080522125523


     
     
    Lissencephaly Type 1
    Johannes Gossner, J Larsen. Lissencephaly Type 1. PedRad [serial online] vol 8, no. 5.
    URL: www.PedRad.info/?search=20080522125523


     

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    Lissencephaly Type 1
    Johannes Gossner, J Larsen. Lissencephaly Type 1. PedRad [serial online] vol 8, no. 5.
    URL: www.PedRad.info/?search=20080522125523


     




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