Journal
AMERICAN JOURNAL OF NEURORADIOLOGY
Volume 38, Issue 1, Pages 77-83Publisher
AMER SOC NEURORADIOLOGY
DOI: 10.3174/ajnr.A4938
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Funding
- Ministry of Health, Labour and Welfare
- National Institutes of Health [P50 NS072187]
- [26117506]
- [16H01331]
- Grants-in-Aid for Scientific Research [16H01331] Funding Source: KAKEN
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Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia is a rare neurodegenerative disease resulting from mutations in the colony stimulating factor 1 receptor gene. Accurate diagnosis can be difficult because the associated clinical and MR imaging findings are nonspecific. We present 9 cases with intracranial calcifications distributed in 2 brain regions: the frontal white matter adjacent to the anterior horns of the lateral ventricles and the parietal subcortical white matter. Thin-section (1-mm) CT scans are particularly helpful in detection due to the small size of the calcifications. These calcifications had a symmetric stepping stone appearance in the frontal pericallosal regions, which was clearly visible on reconstructed sagittal CT images. Intrafamilial variability was seen in 2 of the families, and calcifications were seen at birth in a single individual. These characteristic calcification patterns may assist in making a correct diagnosis and may contribute to understanding of the pathogenesis of leukoencephalopathy.
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