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Contribution of Fetal MR Imaging in the Prenatal Diagnosis of Zellweger Syndrome

F. Mochela, A.-G. Grébilleb, A. Benachib, J. Martinovicc, F. Razavic, D. Rabierd, I. Simona, N. Boddaerta, F. Brunellea and P. Sonigoa

a Service de Radiologie Pédiatrique, Hôpital Necker-Enfants Malades, Paris, France
b Service de la Maternité, Hôpital Necker-Enfants Malades, Paris, France
c Service d’Histo-embryologie et de Cytogénétique, Hôpital Necker-Enfants Malades, Paris, France
d Département de Biochimie, Hôpital Necker-Enfants Malades, Paris, France


Figure 1
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  		Fig 1. Case 1. Axial T2-weighted MR images show bilateral ventriculomegaly as well as large cavum. Abnormally small cerebral convolutions predominate in the frontal and perisylvian cortex (A) and periventricular leukodystrophy predominates in the frontal area. Note bilateral germinolytic cysts in the subependymal areas (B).


Figure 2
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  		Fig 2. Case 2. Axial T2-weighted MR images reveal, as in case 1, bilateral ventricular enlargement, frontal abnormalities of the white matter, and polymicrogyria predominating in the frontal, perisylvian cortex with large sylvian valley (A) and bilateral periventricular pseudocysts (B).


Figure 3
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  		Fig 3. Case 2. Coronal T2-weighted MR image shows large cavum and bilateral subependymal pseudocysts (A). Postmortem coronal section confirms the micropolygyric pattern predominating in the frontal and perisylvian cortex (B).





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