EURORAD ESR

Case 15330

Congenital disorder of glycosylation, a neuroradiologic case report.

Author(s)
Dr. H. Vandermaesen, Dr. L. Flamée, Dr. J. Lambert, Dr. S. Capelle.

University hospital of Leuven, Herestraat 49 3000 Leuven, Belgium; Email:Hvdmaesen@gmail.com
 
Patient
male, 16 year(s)
 
 
  • Figure 1
    CT at age 16

    Sagittal reconstruction of a CT shows an increased volume-loss of the cerebellum when compared with previous imaging (Figure 3). Note the progressive widening of the cerebellar folia and progressive pontine atrophy.

     
    Area of Interest: Neuroradiology brain; Imaging Technique: CT; Procedure: Imaging sequences; Special Focus: Metabolic disorders;
     
     
  • Figure 2
    MRI at age 16
     

    A coronal FLAIR-weighted image showed an increase signal-intensity of the cerebellar parenchyma, when compared with the cerebral parenchyma.

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

    Axial T2-weighted image shows the hypoplastic and atrophic cerebellum, involving the vermis and both cerebellar hemispheres.

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

    Axial T2-weighted image shows the hypoplastic and atrophic cerebellum, involving the vermis and both cerebellar hemispheres.

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

    Axial T2-weighted images shows the hypoplastic and atrophic cerebellum, involving the vermis and both cerebellar hemispheres.

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

    Axial T2-weighted image shows the hypoplastic and atrophic cerebellum, involving the vermis and both cerebellar hemispheres.

     
    Area of Interest: Neuroradiology brain; Imaging Technique: MR; Procedure: Imaging sequences; Special Focus: Metabolic disorders;
     
     
  • Figure 3
    MRI at the age of 6 month

    Sagittal T1-weighted image, at 6 months shows a small cerebellum in an otherwise normal posterior fossa, suggestive of cerebellar hypoplasia.

     
    Area of Interest: Neuroradiology brain; Imaging Technique: MR; Procedure: Imaging sequences; Special Focus: Metabolic disorders;
     
     
Sagittal reconstruction of a CT shows an increased volume-loss of the cerebellum when compared with previous imaging (Figure 3). Note the progressive widening of the cerebellar folia and progressive pontine atrophy.
 
A coronal FLAIR-weighted image showed an increase signal-intensity of the cerebellar parenchyma, when compared with the cerebral parenchyma.
 
Axial T2-weighted image shows the hypoplastic and atrophic cerebellum, involving the vermis and both cerebellar hemispheres.
 
Axial T2-weighted image shows the hypoplastic and atrophic cerebellum, involving the vermis and both cerebellar hemispheres.
 
Axial T2-weighted images shows the hypoplastic and atrophic cerebellum, involving the vermis and both cerebellar hemispheres.
 
Axial T2-weighted image shows the hypoplastic and atrophic cerebellum, involving the vermis and both cerebellar hemispheres.
 
Sagittal T1-weighted image, at 6 months shows a small cerebellum in an otherwise normal posterior fossa, suggestive of cerebellar hypoplasia.
 
 
 
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