AJDRAJNR - American Journal of Neuroradiology

Published ahead of print on July 24, 2008
doi: 10.3174/ajnr.A1215
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Neonatal Alexander Disease: MR Imaging Prenatal Diagnosis

E. Vázqueza, A. Macayab, N. Mayolasa, S. Arévaloc, M.A. Pocad and G. Enríqueza

a Department of Pediatric Radiology, Área Materno-Infantil, Hospital Universitari Vall d’Hebron, Universidad Autónoma de Barcelona, Barcelona, Spain
b Department of Pediatric Neurology, Área Materno-Infantil, Hospital Universitari Vall d’Hebron, Universidad Autónoma de Barcelona, Barcelona, Spain
c Department of Fetal Medicine, Área Materno-Infantil, Hospital Universitari Vall d’Hebron, Universidad Autónoma de Barcelona, Barcelona, Spain
d Department of Neurosurgery, Área Materno-Infantil, Hospital Universitari Vall d’Hebron, Universidad Autónoma de Barcelona, Barcelona, Spain


Figure 1
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  		Fig 1. First MR imaging examination at 33 week's gestation. Ventriculomegaly with anterior mass effect (arrow) owing to fornix thickening is seen on the axial half-Fourier acquired single-shot turbo spin-echo T2-weighted image. Subtle low signal intensity in the frontal periventricular white matter is questionable.


Figure 2
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  		Fig 2. Follow-up prenatal MR imaging at 36 weeks’ gestation. A and B, Ventriculomegaly (A) and anterior mass effect (B, arrow) are both more pronounced than previously on half-Fourier acquired single-shot turbo spin-echo T2-weighted images. C, It is difficult to assess the presence of white matter abnormalities, though an abnormal hyperintense periventricular rim is present on the T1-weighted image.


Figure 3
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  		Fig 3. Neonatal MR imaging at 2 days of age. A and B, A typical hyperintense periventricular rim (A) is seen on the T1-weighted image (more clearly than in the prenatal images), with swollen frontal white matter and fornices (B, arrow). C, Corresponding abnormally hypointense signal intensity (arrow) is seen on the T2-weighted image. D, There is significant enhancement of the swollen fornices (arrow) following contrast administration. E, MR spectroscopy of the frontal white matter demonstrates abnormally low levels of N-acetylaspartate (NAA) and high levels of myo-inositol (mIns). Cho indicates choline; Cr, creatine; MM, macromolecules; Glx, glutamine/glutamate.





Copyright © 2009 by the American Society of Neuroradiology. Print ISSN: 0195-6108 Online ISSN: 1936-959X