DOI: 10.1148/rg.262055059
Prenatal US and MR Imaging Findings of Lissencephaly: Review of Fetal Cerebral Sulcal Development1
Sandeep Ghai, MD,
Katherine W. Fong, MB, BS, FRCPC,
Ants Toi, MD, FRCPC,
David Chitayat, MD, FRCPC,
Sophia Pantazi, MD, FRCPC and
Susan Blaser, MD, FRCPC
1 From the Department of Medical Imaging (S.G., K.W.F., A.T., S.P., S.B.) and Prenatal Diagnosis and Medical Genetics Program (D.C.), Mount Sinai Hospital and University of Toronto, 600 University Ave, Room 570, Toronto, Ontario, Canada M5G 1X5; and Division of Clinical and Metabolic Genetics (D.C.) and Department of Diagnostic Imaging (S.B.), Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada. Recipient of a Certificate of Merit award for an education exhibit at the 2003 RSNA Annual Meeting. Received March 22, 2005; revision requested May 11; revision received and accepted June 13. All authors have no financial relationships to disclose. K.W.F. supported by an RSNA Research Seed Grant.
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Figure 1a. Development of the parieto-occipital fissure. (a) Photograph of the medial hemispheric surface of the fetal brain at 22 weeks of gestation. The red line represents the axial imaging plane through the parieto-occipital fissure, which is highlighted in green. (b) Axial US image of a 21-week fetus shows an echogenic focus (arrow) on the medial surface of the brain, at the level of the lateral ventricle. (c) Axial US image of a 26-week fetus shows further indentation (arrow). (d, e) Axial (d) and sagittal (e) T2-weighted SSFSE MR images of a 27-week fetus show the parieto-occipital fissure on the medial surface of the brain (white arrow), the calcarine fissure (arrowhead), and the central sulcus (black arrow). (Fig 1a modified and reprinted, with permission, from reference 3.)
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Figure 1b. Development of the parieto-occipital fissure. (a) Photograph of the medial hemispheric surface of the fetal brain at 22 weeks of gestation. The red line represents the axial imaging plane through the parieto-occipital fissure, which is highlighted in green. (b) Axial US image of a 21-week fetus shows an echogenic focus (arrow) on the medial surface of the brain, at the level of the lateral ventricle. (c) Axial US image of a 26-week fetus shows further indentation (arrow). (d, e) Axial (d) and sagittal (e) T2-weighted SSFSE MR images of a 27-week fetus show the parieto-occipital fissure on the medial surface of the brain (white arrow), the calcarine fissure (arrowhead), and the central sulcus (black arrow). (Fig 1a modified and reprinted, with permission, from reference 3.)
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Figure 1c. Development of the parieto-occipital fissure. (a) Photograph of the medial hemispheric surface of the fetal brain at 22 weeks of gestation. The red line represents the axial imaging plane through the parieto-occipital fissure, which is highlighted in green. (b) Axial US image of a 21-week fetus shows an echogenic focus (arrow) on the medial surface of the brain, at the level of the lateral ventricle. (c) Axial US image of a 26-week fetus shows further indentation (arrow). (d, e) Axial (d) and sagittal (e) T2-weighted SSFSE MR images of a 27-week fetus show the parieto-occipital fissure on the medial surface of the brain (white arrow), the calcarine fissure (arrowhead), and the central sulcus (black arrow). (Fig 1a modified and reprinted, with permission, from reference 3.)
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Figure 1d. Development of the parieto-occipital fissure. (a) Photograph of the medial hemispheric surface of the fetal brain at 22 weeks of gestation. The red line represents the axial imaging plane through the parieto-occipital fissure, which is highlighted in green. (b) Axial US image of a 21-week fetus shows an echogenic focus (arrow) on the medial surface of the brain, at the level of the lateral ventricle. (c) Axial US image of a 26-week fetus shows further indentation (arrow). (d, e) Axial (d) and sagittal (e) T2-weighted SSFSE MR images of a 27-week fetus show the parieto-occipital fissure on the medial surface of the brain (white arrow), the calcarine fissure (arrowhead), and the central sulcus (black arrow). (Fig 1a modified and reprinted, with permission, from reference 3.)
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Figure 1e. Development of the parieto-occipital fissure. (a) Photograph of the medial hemispheric surface of the fetal brain at 22 weeks of gestation. The red line represents the axial imaging plane through the parieto-occipital fissure, which is highlighted in green. (b) Axial US image of a 21-week fetus shows an echogenic focus (arrow) on the medial surface of the brain, at the level of the lateral ventricle. (c) Axial US image of a 26-week fetus shows further indentation (arrow). (d, e) Axial (d) and sagittal (e) T2-weighted SSFSE MR images of a 27-week fetus show the parieto-occipital fissure on the medial surface of the brain (white arrow), the calcarine fissure (arrowhead), and the central sulcus (black arrow). (Fig 1a modified and reprinted, with permission, from reference 3.)
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Figure 2a. Calcarine fissure. (a) Photograph of the medial hemispheric surface of the fetal brain at 22 weeks of gestation. The red line represents the coronal imaging plane through the calcarine fissure, which is highlighted in green. (b, c) Coronal US image of a 23-week fetus (b) and coronal T2-weighted SSFSE MR image of a 27-week fetus (c) depict the calcarine fissure on the medial cerebral surface (arrow). V = lateral ventricle. (Fig 2a modified and reprinted, with permission, from reference 3.)
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Figure 2b. Calcarine fissure. (a) Photograph of the medial hemispheric surface of the fetal brain at 22 weeks of gestation. The red line represents the coronal imaging plane through the calcarine fissure, which is highlighted in green. (b, c) Coronal US image of a 23-week fetus (b) and coronal T2-weighted SSFSE MR image of a 27-week fetus (c) depict the calcarine fissure on the medial cerebral surface (arrow). V = lateral ventricle. (Fig 2a modified and reprinted, with permission, from reference 3.)
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Figure 2c. Calcarine fissure. (a) Photograph of the medial hemispheric surface of the fetal brain at 22 weeks of gestation. The red line represents the coronal imaging plane through the calcarine fissure, which is highlighted in green. (b, c) Coronal US image of a 23-week fetus (b) and coronal T2-weighted SSFSE MR image of a 27-week fetus (c) depict the calcarine fissure on the medial cerebral surface (arrow). V = lateral ventricle. (Fig 2a modified and reprinted, with permission, from reference 3.)
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Figure 3a. Cingulate sulcus. (a) Photograph of the medial hemispheric surface of the fetal brain at 28 weeks of gestation. The red line represents the coronal imaging plane through the cingulate sulcus, which is highlighted in green. (b) Coronal T2-weighted SSFSE MR image of a 28-week fetus shows a well-defined cingulate sulcus (arrow) and the sylvian fissure (arrowhead) with margins that form acute angles with the base. (c) Coronal US image of a 29-week fetus shows the cingulate sulcus as an echogenic line (arrow) and the sylvian fissure (arrowhead). (Fig 3a modified and reprinted, with permission, from reference 3.)
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Figure 3b. Cingulate sulcus. (a) Photograph of the medial hemispheric surface of the fetal brain at 28 weeks of gestation. The red line represents the coronal imaging plane through the cingulate sulcus, which is highlighted in green. (b) Coronal T2-weighted SSFSE MR image of a 28-week fetus shows a well-defined cingulate sulcus (arrow) and the sylvian fissure (arrowhead) with margins that form acute angles with the base. (c) Coronal US image of a 29-week fetus shows the cingulate sulcus as an echogenic line (arrow) and the sylvian fissure (arrowhead). (Fig 3a modified and reprinted, with permission, from reference 3.)
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Figure 3c. Cingulate sulcus. (a) Photograph of the medial hemispheric surface of the fetal brain at 28 weeks of gestation. The red line represents the coronal imaging plane through the cingulate sulcus, which is highlighted in green. (b) Coronal T2-weighted SSFSE MR image of a 28-week fetus shows a well-defined cingulate sulcus (arrow) and the sylvian fissure (arrowhead) with margins that form acute angles with the base. (c) Coronal US image of a 29-week fetus shows the cingulate sulcus as an echogenic line (arrow) and the sylvian fissure (arrowhead). (Fig 3a modified and reprinted, with permission, from reference 3.)
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Figure 4a. Convexity sulci. (a) Photograph of the lateral hemispheric surface of the fetal brain at 28 weeks of gestation. Red lines represent the axial US imaging planes (A, B) through the cerebral sulci, which are highlighted in green. (b) Sagittal T2-weighted SSFSE MR image of a 27-week fetus shows the rolandic (central) sulcus (arrow). (c, d) Axial US images of a 28-week fetus (plane A) (c) and a 33-week fetus (plane B) (d) show developing sulci on the lateral hemispheric surface (arrows). (e) Axial T2-weighted SSFSE MR image of a 34-week fetus shows the development of sulci on the lateral hemispheric surface (arrows). (Fig 4a modified and reprinted, with permission, from reference 4.)
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Figure 4b. Convexity sulci. (a) Photograph of the lateral hemispheric surface of the fetal brain at 28 weeks of gestation. Red lines represent the axial US imaging planes (A, B) through the cerebral sulci, which are highlighted in green. (b) Sagittal T2-weighted SSFSE MR image of a 27-week fetus shows the rolandic (central) sulcus (arrow). (c, d) Axial US images of a 28-week fetus (plane A) (c) and a 33-week fetus (plane B) (d) show developing sulci on the lateral hemispheric surface (arrows). (e) Axial T2-weighted SSFSE MR image of a 34-week fetus shows the development of sulci on the lateral hemispheric surface (arrows). (Fig 4a modified and reprinted, with permission, from reference 4.)
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Figure 4c. Convexity sulci. (a) Photograph of the lateral hemispheric surface of the fetal brain at 28 weeks of gestation. Red lines represent the axial US imaging planes (A, B) through the cerebral sulci, which are highlighted in green. (b) Sagittal T2-weighted SSFSE MR image of a 27-week fetus shows the rolandic (central) sulcus (arrow). (c, d) Axial US images of a 28-week fetus (plane A) (c) and a 33-week fetus (plane B) (d) show developing sulci on the lateral hemispheric surface (arrows). (e) Axial T2-weighted SSFSE MR image of a 34-week fetus shows the development of sulci on the lateral hemispheric surface (arrows). (Fig 4a modified and reprinted, with permission, from reference 4.)
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Figure 4d. Convexity sulci. (a) Photograph of the lateral hemispheric surface of the fetal brain at 28 weeks of gestation. Red lines represent the axial US imaging planes (A, B) through the cerebral sulci, which are highlighted in green. (b) Sagittal T2-weighted SSFSE MR image of a 27-week fetus shows the rolandic (central) sulcus (arrow). (c, d) Axial US images of a 28-week fetus (plane A) (c) and a 33-week fetus (plane B) (d) show developing sulci on the lateral hemispheric surface (arrows). (e) Axial T2-weighted SSFSE MR image of a 34-week fetus shows the development of sulci on the lateral hemispheric surface (arrows). (Fig 4a modified and reprinted, with permission, from reference 4.)
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Figure 4e. Convexity sulci. (a) Photograph of the lateral hemispheric surface of the fetal brain at 28 weeks of gestation. Red lines represent the axial US imaging planes (A, B) through the cerebral sulci, which are highlighted in green. (b) Sagittal T2-weighted SSFSE MR image of a 27-week fetus shows the rolandic (central) sulcus (arrow). (c, d) Axial US images of a 28-week fetus (plane A) (c) and a 33-week fetus (plane B) (d) show developing sulci on the lateral hemispheric surface (arrows). (e) Axial T2-weighted SSFSE MR image of a 34-week fetus shows the development of sulci on the lateral hemispheric surface (arrows). (Fig 4a modified and reprinted, with permission, from reference 4.)
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Figure 5a. Normal development of the sylvian fissure. (a) Photograph of the lateral hemispheric surface of the fetal brain at 24 weeks of gestation. The red line represents the axial imaging plane through the sylvian fissure, which is highlighted in green. (b) Axial US image of a 17-week fetus shows a smooth, shallow depression on the lateral surface of the brain (arrowhead), a feature that is also depicted diagrammatically with a red line. This is the first recognizable appearance of the sylvian fissure. (c) Axial T2-weighted SSFSE MR image of a 20-week fetus shows a smooth sylvian indentation (arrow). (d) Axial US image of a 21-week fetus shows further indentation (arrowhead), with distinct angularity at the margins of the insula. The margins form an obtuse angle with the base, as depicted diagrammatically with a red line. (e, f) Axial US image of a 26-week fetus (e) and axial T2-weighted SSFSE MR image of a 27-week fetus (f) show an infolding of margins that form acute angles with the base (arrowhead in e, arrow in f), as depicted diagrammatically with the red line in e. These features should be visible in all normal fetuses after 24.5 weeks. (Fig 5a modified and reprinted, with permission, from reference 4.)
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Figure 5b. Normal development of the sylvian fissure. (a) Photograph of the lateral hemispheric surface of the fetal brain at 24 weeks of gestation. The red line represents the axial imaging plane through the sylvian fissure, which is highlighted in green. (b) Axial US image of a 17-week fetus shows a smooth, shallow depression on the lateral surface of the brain (arrowhead), a feature that is also depicted diagrammatically with a red line. This is the first recognizable appearance of the sylvian fissure. (c) Axial T2-weighted SSFSE MR image of a 20-week fetus shows a smooth sylvian indentation (arrow). (d) Axial US image of a 21-week fetus shows further indentation (arrowhead), with distinct angularity at the margins of the insula. The margins form an obtuse angle with the base, as depicted diagrammatically with a red line. (e, f) Axial US image of a 26-week fetus (e) and axial T2-weighted SSFSE MR image of a 27-week fetus (f) show an infolding of margins that form acute angles with the base (arrowhead in e, arrow in f), as depicted diagrammatically with the red line in e. These features should be visible in all normal fetuses after 24.5 weeks. (Fig 5a modified and reprinted, with permission, from reference 4.)
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Figure 5c. Normal development of the sylvian fissure. (a) Photograph of the lateral hemispheric surface of the fetal brain at 24 weeks of gestation. The red line represents the axial imaging plane through the sylvian fissure, which is highlighted in green. (b) Axial US image of a 17-week fetus shows a smooth, shallow depression on the lateral surface of the brain (arrowhead), a feature that is also depicted diagrammatically with a red line. This is the first recognizable appearance of the sylvian fissure. (c) Axial T2-weighted SSFSE MR image of a 20-week fetus shows a smooth sylvian indentation (arrow). (d) Axial US image of a 21-week fetus shows further indentation (arrowhead), with distinct angularity at the margins of the insula. The margins form an obtuse angle with the base, as depicted diagrammatically with a red line. (e, f) Axial US image of a 26-week fetus (e) and axial T2-weighted SSFSE MR image of a 27-week fetus (f) show an infolding of margins that form acute angles with the base (arrowhead in e, arrow in f), as depicted diagrammatically with the red line in e. These features should be visible in all normal fetuses after 24.5 weeks. (Fig 5a modified and reprinted, with permission, from reference 4.)
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Figure 5d. Normal development of the sylvian fissure. (a) Photograph of the lateral hemispheric surface of the fetal brain at 24 weeks of gestation. The red line represents the axial imaging plane through the sylvian fissure, which is highlighted in green. (b) Axial US image of a 17-week fetus shows a smooth, shallow depression on the lateral surface of the brain (arrowhead), a feature that is also depicted diagrammatically with a red line. This is the first recognizable appearance of the sylvian fissure. (c) Axial T2-weighted SSFSE MR image of a 20-week fetus shows a smooth sylvian indentation (arrow). (d) Axial US image of a 21-week fetus shows further indentation (arrowhead), with distinct angularity at the margins of the insula. The margins form an obtuse angle with the base, as depicted diagrammatically with a red line. (e, f) Axial US image of a 26-week fetus (e) and axial T2-weighted SSFSE MR image of a 27-week fetus (f) show an infolding of margins that form acute angles with the base (arrowhead in e, arrow in f), as depicted diagrammatically with the red line in e. These features should be visible in all normal fetuses after 24.5 weeks. (Fig 5a modified and reprinted, with permission, from reference 4.)
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Figure 5e. Normal development of the sylvian fissure. (a) Photograph of the lateral hemispheric surface of the fetal brain at 24 weeks of gestation. The red line represents the axial imaging plane through the sylvian fissure, which is highlighted in green. (b) Axial US image of a 17-week fetus shows a smooth, shallow depression on the lateral surface of the brain (arrowhead), a feature that is also depicted diagrammatically with a red line. This is the first recognizable appearance of the sylvian fissure. (c) Axial T2-weighted SSFSE MR image of a 20-week fetus shows a smooth sylvian indentation (arrow). (d) Axial US image of a 21-week fetus shows further indentation (arrowhead), with distinct angularity at the margins of the insula. The margins form an obtuse angle with the base, as depicted diagrammatically with a red line. (e, f) Axial US image of a 26-week fetus (e) and axial T2-weighted SSFSE MR image of a 27-week fetus (f) show an infolding of margins that form acute angles with the base (arrowhead in e, arrow in f), as depicted diagrammatically with the red line in e. These features should be visible in all normal fetuses after 24.5 weeks. (Fig 5a modified and reprinted, with permission, from reference 4.)
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Figure 5f. Normal development of the sylvian fissure. (a) Photograph of the lateral hemispheric surface of the fetal brain at 24 weeks of gestation. The red line represents the axial imaging plane through the sylvian fissure, which is highlighted in green. (b) Axial US image of a 17-week fetus shows a smooth, shallow depression on the lateral surface of the brain (arrowhead), a feature that is also depicted diagrammatically with a red line. This is the first recognizable appearance of the sylvian fissure. (c) Axial T2-weighted SSFSE MR image of a 20-week fetus shows a smooth sylvian indentation (arrow). (d) Axial US image of a 21-week fetus shows further indentation (arrowhead), with distinct angularity at the margins of the insula. The margins form an obtuse angle with the base, as depicted diagrammatically with a red line. (e, f) Axial US image of a 26-week fetus (e) and axial T2-weighted SSFSE MR image of a 27-week fetus (f) show an infolding of margins that form acute angles with the base (arrowhead in e, arrow in f), as depicted diagrammatically with the red line in e. These features should be visible in all normal fetuses after 24.5 weeks. (Fig 5a modified and reprinted, with permission, from reference 4.)
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Figure 6. Abnormal development of the parieto-occipital and calcarine fissures in a 23-week fetus with Miller-Dieker syndrome. Axial US image shows the absence of the parieto-occipital fissure from the expected location (arrow) on the medial hemispheric surface.
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Figure 7. Abnormal development of the parieto-occipital and calcarine fissures in a 23-week fetus with Miller-Dieker syndrome. Coronal US image shows the absence of the calcarine fissure from the expected location (arrow) on the medial hemispheric surface. (Figs 6 and 7 reprinted, with permission, from reference 18.)
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Figure 8a. Lissencephaly associated with Miller-Dieker syndrome. (a) Axial US image of a 26-week fetus shows a flat appearance of the sylvian fissure (large arrow), which is abnormal in a fetus of this gestational age, as well as mild ventriculomegaly (V) and absence of the parieto-occipital fissure (small arrow). (b, c) Axial (b) and coronal (c) T2-weighted SSFSE MR images at 28 weeks of gestation help confirm the abnormal opercular formation of the insula (arrow).
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Figure 8b. Lissencephaly associated with Miller-Dieker syndrome. (a) Axial US image of a 26-week fetus shows a flat appearance of the sylvian fissure (large arrow), which is abnormal in a fetus of this gestational age, as well as mild ventriculomegaly (V) and absence of the parieto-occipital fissure (small arrow). (b, c) Axial (b) and coronal (c) T2-weighted SSFSE MR images at 28 weeks of gestation help confirm the abnormal opercular formation of the insula (arrow).
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Figure 8c. Lissencephaly associated with Miller-Dieker syndrome. (a) Axial US image of a 26-week fetus shows a flat appearance of the sylvian fissure (large arrow), which is abnormal in a fetus of this gestational age, as well as mild ventriculomegaly (V) and absence of the parieto-occipital fissure (small arrow). (b, c) Axial (b) and coronal (c) T2-weighted SSFSE MR images at 28 weeks of gestation help confirm the abnormal opercular formation of the insula (arrow).
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Figure 9a. Lissencephaly associated with Miller-Dieker syndrome. Axial US image of a 32-week fetus shows an abnormal flat insula (arrow), a smooth brain surface, and mild ventriculomegaly (14 mm) as indicated by calipers. (b) Axial T2-weighted SSFSE MR image shows the flat insula (arrow), the smooth cortex, and colpocephaly. A normal cavum septum pellucidum (*) also is visible. (c) Coronal cut section of the brain at 34 weeks shows the smooth cortex and flat insula (arrow).
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Figure 9b. Lissencephaly associated with Miller-Dieker syndrome. Axial US image of a 32-week fetus shows an abnormal flat insula (arrow), a smooth brain surface, and mild ventriculomegaly (14 mm) as indicated by calipers. (b) Axial T2-weighted SSFSE MR image shows the flat insula (arrow), the smooth cortex, and colpocephaly. A normal cavum septum pellucidum (*) also is visible. (c) Coronal cut section of the brain at 34 weeks shows the smooth cortex and flat insula (arrow).
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Figure 9c. Lissencephaly associated with Miller-Dieker syndrome. Axial US image of a 32-week fetus shows an abnormal flat insula (arrow), a smooth brain surface, and mild ventriculomegaly (14 mm) as indicated by calipers. (b) Axial T2-weighted SSFSE MR image shows the flat insula (arrow), the smooth cortex, and colpocephaly. A normal cavum septum pellucidum (*) also is visible. (c) Coronal cut section of the brain at 34 weeks shows the smooth cortex and flat insula (arrow).
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Figure 10. Absence of the cingulate sulcus. Coronal US image of a 34-week fetus with type I lissencephaly shows the absence of the cingulate sulcus from the expected location (arrow) on the medial hemispheric surface. This finding is considered abnormal at 34 weeks gestational age.
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Figure 11a. Walker-Warburg syndrome. (a) Axial US image of a 16-week fetus shows ventriculomegaly, which is evidenced by dangling choroid plexi (C). The wall of the near-field lateral ventricle (arrowhead) also is visible. (b) Axial US image at a level caudad to a shows a large defect (*), due to vermian agenesis, between the cerebellar hemispheres (arrows). Pathologic analysis of a postmortem specimen, obtained after delivery of the fetus at 19 weeks, showed cobblestone complex. There was a previous history of three stillborn fetuses with Walker-Warburg syndrome.
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Figure 11b. Walker-Warburg syndrome. (a) Axial US image of a 16-week fetus shows ventriculomegaly, which is evidenced by dangling choroid plexi (C). The wall of the near-field lateral ventricle (arrowhead) also is visible. (b) Axial US image at a level caudad to a shows a large defect (*), due to vermian agenesis, between the cerebellar hemispheres (arrows). Pathologic analysis of a postmortem specimen, obtained after delivery of the fetus at 19 weeks, showed cobblestone complex. There was a previous history of three stillborn fetuses with Walker-Warburg syndrome.
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Figure 12a. Walker-Warburg syndrome. (a) Axial US image of a 25-week fetus shows a dilated lateral ventricle (V) with posterior rupture (arrowhead); a small skin-covered occipital encephalocele (white arrow); and a flat appearance of the sylvian fissure (black arrow), which is abnormal at 25 weeks of gestation. Vermian hypoplasia (not shown) also was present. (b) Coronal US image at 35 weeks shows a dilated third ventricle (*), asymmetrically dilated frontal horns (V), an abnormal sylvian fissure (black arrow), and a small brainstem (white arrow). (c) Parasagittal T2-weighted SSFSE MR image at 27 weeks shows an irregular surface of the frontoparietal cortex (arrow) and a dilated ventricle (V) with irregular walls, a feature suggestive of subependymal heterotopia. (d) Sagittal T2-weighted SSFSE MR image at 27 weeks demonstrates the typical Z-shaped brainstem (white arrow) and hypoplastic vermis (black arrow). (e) Axial T2-weighted SSFSE MR image at 27 weeks shows asymmetry of the globes of the eyes (arrows), ventriculomegaly (V), and ventricular rupture (arrowhead).
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Figure 12b. Walker-Warburg syndrome. (a) Axial US image of a 25-week fetus shows a dilated lateral ventricle (V) with posterior rupture (arrowhead); a small skin-covered occipital encephalocele (white arrow); and a flat appearance of the sylvian fissure (black arrow), which is abnormal at 25 weeks of gestation. Vermian hypoplasia (not shown) also was present. (b) Coronal US image at 35 weeks shows a dilated third ventricle (*), asymmetrically dilated frontal horns (V), an abnormal sylvian fissure (black arrow), and a small brainstem (white arrow). (c) Parasagittal T2-weighted SSFSE MR image at 27 weeks shows an irregular surface of the frontoparietal cortex (arrow) and a dilated ventricle (V) with irregular walls, a feature suggestive of subependymal heterotopia. (d) Sagittal T2-weighted SSFSE MR image at 27 weeks demonstrates the typical Z-shaped brainstem (white arrow) and hypoplastic vermis (black arrow). (e) Axial T2-weighted SSFSE MR image at 27 weeks shows asymmetry of the globes of the eyes (arrows), ventriculomegaly (V), and ventricular rupture (arrowhead).
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Figure 12c. Walker-Warburg syndrome. (a) Axial US image of a 25-week fetus shows a dilated lateral ventricle (V) with posterior rupture (arrowhead); a small skin-covered occipital encephalocele (white arrow); and a flat appearance of the sylvian fissure (black arrow), which is abnormal at 25 weeks of gestation. Vermian hypoplasia (not shown) also was present. (b) Coronal US image at 35 weeks shows a dilated third ventricle (*), asymmetrically dilated frontal horns (V), an abnormal sylvian fissure (black arrow), and a small brainstem (white arrow). (c) Parasagittal T2-weighted SSFSE MR image at 27 weeks shows an irregular surface of the frontoparietal cortex (arrow) and a dilated ventricle (V) with irregular walls, a feature suggestive of subependymal heterotopia. (d) Sagittal T2-weighted SSFSE MR image at 27 weeks demonstrates the typical Z-shaped brainstem (white arrow) and hypoplastic vermis (black arrow). (e) Axial T2-weighted SSFSE MR image at 27 weeks shows asymmetry of the globes of the eyes (arrows), ventriculomegaly (V), and ventricular rupture (arrowhead).
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Figure 12d. Walker-Warburg syndrome. (a) Axial US image of a 25-week fetus shows a dilated lateral ventricle (V) with posterior rupture (arrowhead); a small skin-covered occipital encephalocele (white arrow); and a flat appearance of the sylvian fissure (black arrow), which is abnormal at 25 weeks of gestation. Vermian hypoplasia (not shown) also was present. (b) Coronal US image at 35 weeks shows a dilated third ventricle (*), asymmetrically dilated frontal horns (V), an abnormal sylvian fissure (black arrow), and a small brainstem (white arrow). (c) Parasagittal T2-weighted SSFSE MR image at 27 weeks shows an irregular surface of the frontoparietal cortex (arrow) and a dilated ventricle (V) with irregular walls, a feature suggestive of subependymal heterotopia. (d) Sagittal T2-weighted SSFSE MR image at 27 weeks demonstrates the typical Z-shaped brainstem (white arrow) and hypoplastic vermis (black arrow). (e) Axial T2-weighted SSFSE MR image at 27 weeks shows asymmetry of the globes of the eyes (arrows), ventriculomegaly (V), and ventricular rupture (arrowhead).
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Figure 12e. Walker-Warburg syndrome. (a) Axial US image of a 25-week fetus shows a dilated lateral ventricle (V) with posterior rupture (arrowhead); a small skin-covered occipital encephalocele (white arrow); and a flat appearance of the sylvian fissure (black arrow), which is abnormal at 25 weeks of gestation. Vermian hypoplasia (not shown) also was present. (b) Coronal US image at 35 weeks shows a dilated third ventricle (*), asymmetrically dilated frontal horns (V), an abnormal sylvian fissure (black arrow), and a small brainstem (white arrow). (c) Parasagittal T2-weighted SSFSE MR image at 27 weeks shows an irregular surface of the frontoparietal cortex (arrow) and a dilated ventricle (V) with irregular walls, a feature suggestive of subependymal heterotopia. (d) Sagittal T2-weighted SSFSE MR image at 27 weeks demonstrates the typical Z-shaped brainstem (white arrow) and hypoplastic vermis (black arrow). (e) Axial T2-weighted SSFSE MR image at 27 weeks shows asymmetry of the globes of the eyes (arrows), ventriculomegaly (V), and ventricular rupture (arrowhead).
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Figure 13a. Encephalocele and retinal nonattachment in Walker-Warburg syndrome (HARD±E syndrome). (a) Axial US image of the cranium in an 18-week fetus shows an encephalocele (arrow) that protrudes through an occipital bone defect. (b) Axial US image of the right orbit in a 35-week fetus shows a conical structure within the globe, a feature indicative of retinal nonattachment (arrow). The base of the abnormal retina faces the lens, and the apex points posteriorly toward the optic nerve. N = nose.
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Figure 13b. Encephalocele and retinal nonattachment in Walker-Warburg syndrome (HARD±E syndrome). (a) Axial US image of the cranium in an 18-week fetus shows an encephalocele (arrow) that protrudes through an occipital bone defect. (b) Axial US image of the right orbit in a 35-week fetus shows a conical structure within the globe, a feature indicative of retinal nonattachment (arrow). The base of the abnormal retina faces the lens, and the apex points posteriorly toward the optic nerve. N = nose.
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Figure 14a. Walker-Warburg syndrome. (a) Axial US image of a 39-week fetus shows marked dilatation of the ventricles (V) and marked thinning of the cerebral cortex. (b) Cut section of the brain confirms marked dilatation of the ventricles and shows the paucity of sulci (pachygyria).
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Figure 14b. Walker-Warburg syndrome. (a) Axial US image of a 39-week fetus shows marked dilatation of the ventricles (V) and marked thinning of the cerebral cortex. (b) Cut section of the brain confirms marked dilatation of the ventricles and shows the paucity of sulci (pachygyria).
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Copyright © 2006 by the Radiological Society of North America.
