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Holoprosencephaly in Children: Diffusion Tensor MR Imaging of White Matter Tracts of the Brainstem—Initial Experience¹

¹ From the Department of Radiology and Radiological Sciences, Johns Hopkins Medical Institutions, Baltimore, Md (S.A., E.R.M., S.M., S.J.Z.); F. M. Kirby Research Center for Functional Brain Imaging (E.R.M., S.M.) and Department of Developmental Medicine (S.L.K.), Kennedy-Krieger Institute, Baltimore, Md; and Department of Radiology, University of California at San Francisco (A.J.B.). Received July 13, 2001; revision requested August 24; revision received October 22; accepted December 11. Funding for the Carter Center for Brain Research in Holoprosencephaly and Related Malformations at the Kennedy-Krieger Institute provided by The Don and Linda Carter Foundation, Denton, Tex. Address correspondence to E.R.M., Department of Radiology, University of Pennsylvania Medical Center, 3400 Spruce St, Ground Floor Founders Bldg, Philadelphia, PA 19104 (e-mail: emelhem@jhmi.edu).

View larger version (87K): [in a new window]   Figure 1a. Transverse color maps derived from diffusion tensor MR imaging in an 8-year-old male control subject demonstrate brainstem white matter tracts at the levels of the (a) medulla oblongata, (b) pons, (c) pontomesencephalic junction, and (d) mesencephalon. The color assigned to white matter tracts is determined by the trajectory of the tracts, with blue denoting the superior-to-inferior direction; red, the left-to-right direction; and green, the anterior-to-posterior direction. CST = corticospinal tract, ICP = inferior cerebellar peduncle, ML = medial lemniscus, SCP = superior cerebellar peduncle.

View larger version (93K): [in a new window]   Figure 1b. Transverse color maps derived from diffusion tensor MR imaging in an 8-year-old male control subject demonstrate brainstem white matter tracts at the levels of the (a) medulla oblongata, (b) pons, (c) pontomesencephalic junction, and (d) mesencephalon. The color assigned to white matter tracts is determined by the trajectory of the tracts, with blue denoting the superior-to-inferior direction; red, the left-to-right direction; and green, the anterior-to-posterior direction. CST = corticospinal tract, ICP = inferior cerebellar peduncle, ML = medial lemniscus, SCP = superior cerebellar peduncle.

View larger version (123K): [in a new window]   Figure 1c. Transverse color maps derived from diffusion tensor MR imaging in an 8-year-old male control subject demonstrate brainstem white matter tracts at the levels of the (a) medulla oblongata, (b) pons, (c) pontomesencephalic junction, and (d) mesencephalon. The color assigned to white matter tracts is determined by the trajectory of the tracts, with blue denoting the superior-to-inferior direction; red, the left-to-right direction; and green, the anterior-to-posterior direction. CST = corticospinal tract, ICP = inferior cerebellar peduncle, ML = medial lemniscus, SCP = superior cerebellar peduncle.

View larger version (121K): [in a new window]   Figure 1d. Transverse color maps derived from diffusion tensor MR imaging in an 8-year-old male control subject demonstrate brainstem white matter tracts at the levels of the (a) medulla oblongata, (b) pons, (c) pontomesencephalic junction, and (d) mesencephalon. The color assigned to white matter tracts is determined by the trajectory of the tracts, with blue denoting the superior-to-inferior direction; red, the left-to-right direction; and green, the anterior-to-posterior direction. CST = corticospinal tract, ICP = inferior cerebellar peduncle, ML = medial lemniscus, SCP = superior cerebellar peduncle.

View larger version (123K): [in a new window]   Figure 2a. (a) Transverse T2-weighted MR image (5,000/92 [effective]) obtained at the level of the pons (arrowheads) in an 8-month-old girl with alobar holoprosencephaly. (b) On the corresponding color map, the CPST cannot be identified in the basis pontis (anterior to horizontal line in a and b) despite the apparently normal configuration of the pons in a.

View larger version (119K): [in a new window]   Figure 2b. (a) Transverse T2-weighted MR image (5,000/92 [effective]) obtained at the level of the pons (arrowheads) in an 8-month-old girl with alobar holoprosencephaly. (b) On the corresponding color map, the CPST cannot be identified in the basis pontis (anterior to horizontal line in a and b) despite the apparently normal configuration of the pons in a.

View larger version (154K): [in a new window]   Figure 3a. (a) Transverse T2-weighted MR image (5,000/92 [effective]) obtained at the level of the mesencephalon in a 7-month-old girl with alobar holoprosencephaly and (b) corresponding color map demonstrate noncleavage of the mesencephalon and fusion (arrowheads in b) of the medial lemniscus in the center of the mesencephalon.

View larger version (116K): [in a new window]   Figure 3b. (a) Transverse T2-weighted MR image (5,000/92 [effective]) obtained at the level of the mesencephalon in a 7-month-old girl with alobar holoprosencephaly and (b) corresponding color map demonstrate noncleavage of the mesencephalon and fusion (arrowheads in b) of the medial lemniscus in the center of the mesencephalon.

View larger version (176K): [in a new window]   Figure 4a. (a) Transverse T2-weighted (5,000/92 [effective]) and (b) coronal phase-sensitive fast inversion-recovery (3,000/40 [effective]/200) MR images obtained at the levels of the basal ganglia and thalami in a 1-month-old boy with semilobar holoprosencephaly demonstrate noncleavage of the deep gray matter nuclei (asterisks) and rostral portion of the cerebrum, with continuation of the subcortical white matter (arrowheads) across the midline. (c) Transverse T2-weighted MR image (5,000/92 [effective]) obtained at the level of the medulla oblongata in the same patient as in a and b and (d) corresponding color map. In d, the corticospinal tract cannot be identified in the region of the pyramids (anterior to horizontal line in c and d) despite the apparently normal configuration of the pyramids (arrowheads in c) in c. Note the adequate demonstration of the inferior cerebellar peduncles (arrows in d).

View larger version (163K): [in a new window]   Figure 4b. (a) Transverse T2-weighted (5,000/92 [effective]) and (b) coronal phase-sensitive fast inversion-recovery (3,000/40 [effective]/200) MR images obtained at the levels of the basal ganglia and thalami in a 1-month-old boy with semilobar holoprosencephaly demonstrate noncleavage of the deep gray matter nuclei (asterisks) and rostral portion of the cerebrum, with continuation of the subcortical white matter (arrowheads) across the midline. (c) Transverse T2-weighted MR image (5,000/92 [effective]) obtained at the level of the medulla oblongata in the same patient as in a and b and (d) corresponding color map. In d, the corticospinal tract cannot be identified in the region of the pyramids (anterior to horizontal line in c and d) despite the apparently normal configuration of the pyramids (arrowheads in c) in c. Note the adequate demonstration of the inferior cerebellar peduncles (arrows in d).

View larger version (96K): [in a new window]   Figure 4c. (a) Transverse T2-weighted (5,000/92 [effective]) and (b) coronal phase-sensitive fast inversion-recovery (3,000/40 [effective]/200) MR images obtained at the levels of the basal ganglia and thalami in a 1-month-old boy with semilobar holoprosencephaly demonstrate noncleavage of the deep gray matter nuclei (asterisks) and rostral portion of the cerebrum, with continuation of the subcortical white matter (arrowheads) across the midline. (c) Transverse T2-weighted MR image (5,000/92 [effective]) obtained at the level of the medulla oblongata in the same patient as in a and b and (d) corresponding color map. In d, the corticospinal tract cannot be identified in the region of the pyramids (anterior to horizontal line in c and d) despite the apparently normal configuration of the pyramids (arrowheads in c) in c. Note the adequate demonstration of the inferior cerebellar peduncles (arrows in d).

View larger version (127K): [in a new window]   Figure 4d. (a) Transverse T2-weighted (5,000/92 [effective]) and (b) coronal phase-sensitive fast inversion-recovery (3,000/40 [effective]/200) MR images obtained at the levels of the basal ganglia and thalami in a 1-month-old boy with semilobar holoprosencephaly demonstrate noncleavage of the deep gray matter nuclei (asterisks) and rostral portion of the cerebrum, with continuation of the subcortical white matter (arrowheads) across the midline. (c) Transverse T2-weighted MR image (5,000/92 [effective]) obtained at the level of the medulla oblongata in the same patient as in a and b and (d) corresponding color map. In d, the corticospinal tract cannot be identified in the region of the pyramids (anterior to horizontal line in c and d) despite the apparently normal configuration of the pyramids (arrowheads in c) in c. Note the adequate demonstration of the inferior cerebellar peduncles (arrows in d).

View larger version (49K): [in a new window]   Figure 5. Transverse color maps derived from diffusion tensor MR imaging at the level of the pons in patients with lobar (left), semilobar (middle), and alobar (right) holoprosencephaly. The MCPs (arrows) decrease in size with increasing severity of holoprosencephaly.