EURORAD ESR

Case 13640

Magnetic Resonace Imaging findings in a case of infantile Refsum disease

Author(s)
Paolo Galluzzi 1, Irene Grazzini 2, Sabrina Buoni 3

1NeuroImaging and Neurointerventional Unit (NINT),
Azienda Ospedaliera e Universitaria Senese,
Policlinico Santa Maria alle Scotte,
Siena, Italy

2Department of Medical, Surgical and Neuro Sciences,
Diagnostic Imaging Unit, University of Siena,
Azienda Ospedaliera Universitaria Senese,
Siena, Italy
Email:irene.grazzini@gmail.com

3Department of Molecular Medicine and Developmental Medicine,
Section of Child Neurology and Psychiatry,
Azienda Ospedaliera Universitaria Senese, Policlinico Le Scotte,
Siena, Italy
 
Patient
female, 16 year(s)
 
 
  • Figure 1
    Morphological MRI
     

    FLAIR axial image (a) shows patchy periventricular white matter hyperintensities with sparing of the U-fibres.

     
    Area of Interest: Neuroradiology brain; Imaging Technique: MR; Procedure: Diagnostic procedure; Special Focus: Metabolic disorders;

    Sagittal T1-weighted image (b) reveals cortical atrophy and thinning of the body of the corpus callosum.

     
    Area of Interest: Neuroradiology brain; Imaging Technique: MR; Procedure: Diagnostic procedure; Special Focus: Metabolic disorders;

    Axial and coronal (c-d) T2-weighted images confirm white matter changes in the supratentorial periventricular areas and in the cerebellum.

     
    Area of Interest: Neuroradiology brain; Imaging Technique: MR; Procedure: Diagnostic procedure; Special Focus: Metabolic disorders;

    Axial and coronal (c-d) T2-weighted images confirm white matter changes in the supratentorial periventricular areas and in the cerebellum.

     
    Area of Interest: Neuroradiology brain; Imaging Technique: MR; Procedure: Diagnostic procedure; Special Focus: Metabolic disorders;
     
     
  • Figure 2
    Spectroscopy

    Spectroscopy evaluation at the level of the corona radiata reveals increased Cholin (Cho)/N-acetylaspartate (NAA) ratio and increased Myo-inositol (Mio), Lipid (Lip) and lactate (Lac) peaks.

     
    Area of Interest: Neuroradiology brain; Imaging Technique: MR-Spectroscopy; Procedure: Diagnostic procedure; Special Focus: Metabolic disorders;
     
     
  • Figure 3
    DTI
     

    DTI directional map at the level of the corona radiata shows reduction of blue fibres and increased red ones in the posterior corona radiata, arrangement of the fibres is relatively conserved in the anterior tracts.

     
    Area of Interest: Neuroradiology brain; Imaging Technique: MR-Functional imaging; Procedure: Diagnostic procedure; Special Focus: Metabolic disorders;

    3D sagittal presentation of fibres confirms reduction of the blue fibres in the rolandic areas and posterior corona radiata, arrangement of the fibere is relatively conserved in the anterior tracts.

     
    Area of Interest: Neuroradiology brain; Imaging Technique: MR-Functional imaging; Procedure: Diagnostic procedure; Special Focus: Metabolic disorders;
     
     
FLAIR axial image (a) shows patchy periventricular white matter hyperintensities with sparing of the U-fibres.
 
Sagittal T1-weighted image (b) reveals cortical atrophy and thinning of the body of the corpus callosum.
 
Axial and coronal (c-d) T2-weighted images confirm white matter changes in the supratentorial periventricular areas and in the cerebellum.
 
Axial and coronal (c-d) T2-weighted images confirm white matter changes in the supratentorial periventricular areas and in the cerebellum.
 
Spectroscopy evaluation at the level of the corona radiata reveals increased Cholin (Cho)/N-acetylaspartate (NAA) ratio and increased Myo-inositol (Mio), Lipid (Lip) and lactate (Lac) peaks.
 
DTI directional map at the level of the corona radiata shows reduction of blue fibres and increased red ones in the posterior corona radiata, arrangement of the fibres is relatively conserved in the anterior tracts.
 
3D sagittal presentation of fibres confirms reduction of the blue fibres in the rolandic areas and posterior corona radiata, arrangement of the fibere is relatively conserved in the anterior tracts.
 
 
 
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