Article Figures & Data
Figures
- Fig 1.
A–C, Case 1. Small bilateral calcifications in the frontal and parietal subcortical white matter on axial CT images (arrows). D–F, Sagittal CT images corresponding to the dashes in A show pericallosal calcifications. Note that these calcifications symmetrically aligned with the upper edges of the lateral ventricles have a stepping stone appearance (enlarged images are inserted); no calcifications are seen in the midline (E).
- Fig 2.
A–C, Case 2. Bilateral, scattered calcifications in the parietal subcortical white matter on axial CT images (arrows in B and C). There are also very tiny calcifications in the bilateral frontal white matter (arrowheads in A and B). D, Coronal CT imaging reveals that the parietal calcifications are located in the subcortical white matter, not in the cortex.
- Fig 3.
A, Case 3. Small bilateral calcifications in the frontal white matter adjacent to the anterior horns of the lateral ventricles on an axial CT image (arrows). B, Sagittal view represents the symmetric and characteristic stepping stone appearance (arrows). C, Case 4. Small bilateral calcifications in the parietal subcortical white matter on an axial CT image (arrows), but there are no calcifications in the frontal area. D, Sagittal CT image displays subtle calcifications in the anterior pericallosal region bilaterally (arrows).
- Fig 4.
A–C, Case 5. Axial CT images at 1 month after birth show bilateral frontal and parietal calcifications (arrows). D–F, These calcifications still exist when the patient is 24 years of age, but they are somewhat smaller, especially those in the frontal regions (arrows). The white cursor inside the anterior horn is included (A) because this is a captured image. G and H, Sagittal views show symmetric frontal pericallosal calcifications in the characteristic stepping stone appearance (arrows; enlarged images in the inserts: G is the right hemisphere, and H is the left hemisphere).
- Fig 5.
A–C, Case 1. Typical white matter changes involving the corpus callosum and the pyramidal tracts (A and C, arrows), dilation of the lateral ventricles and cortical atrophy seen on FLAIR axial (A and B) and T2-weighted coronal imaging (C). D–F, Case 2. Abnormal signaling in the white matter, corpus callosum, and bilateral pyramidal tracts (D, arrows) and enlargement of the lateral ventricles on FLAIR (D). Several diffusion-restricted lesions with low ADC values in the white matter on DWI (E, arrows) and ADC maps (F, arrows). G–I, Case 3. FLAIR image shows frontal-dominant white matter changes bilaterally as well as in the internal capsules (G, arrows). The genu of the corpus callosum is also involved. Several diffusion-restricted lesions in the subcortical white matter can be seen around the lateral ventricles on DWI (H, arrows). These lesions demonstrate decreased signals on ADC maps (I, arrows). J, Case 4. The severity of the white matter changes is less evident than in case 3, the daughter of case 4, on the FLAIR axial image. K, Case 6. Bifrontal white matter lesions, thinning of the corpus callosum, dilation of the lateral ventricles, and cortical atrophy on FLAIR coronal image. L, Case 7. Left-side predominant white matter changes in the frontal and parietal regions and involvement in the corpus callosum on a FLAIR axial image.
Tables
Case series of ALSP with brain calcifications
Case Sex CSF1R Mutation Origin FH Age at Onset (yr) Age at CT (yr) Section Thickness (mm) Location of Calcifications Stepping Stone Appearance on Sagittal CT Frontal Parietal 1 F c.1765G>A/p.G589Ra Japan − 37 44 5 + + + 2 F c.1954G>C/p.A652Pa Japan − 30 31 2 + + NA 3 F c.2442+5G>Aa Japan + 27 28 1 + − + 4 M c.2442+5G>Aa Japan + 58 61 4 (1)c + + + 5 F c.2442+5G>C US − 23 0, 24 6, 5 + + + 6 F c.2297T>C/p.M766T US + 18 30 1.3 (1)c + − + 7 M c.1766G>A/p.G589E US + 58 60 3 + − NA 8 F c.1766G>A/p.G589E US + 47 52 7 + + NA 9 M Untestedb US − 57 67 3 + − NA
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