PT  - JOURNAL ARTICLE
AU  - Konno, T.
AU  - Broderick, D.F.
AU  - Mezaki, N.
AU  - Isami, A.
AU  - Kaneda, D.
AU  - Tashiro, Y.
AU  - Tokutake, T.
AU  - Keegan, B.M.
AU  - Woodruff, B.K.
AU  - Miura, T.
AU  - Nozaki, H.
AU  - Nishizawa, M.
AU  - Onodera, O.
AU  - Wszolek, Z.K.
AU  - Ikeuchi, T.
TI  - Diagnostic Value of Brain Calcifications in Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia
AID  - 10.3174/ajnr.A4938
DP  - 2017 Jan 01
TA  - American Journal of Neuroradiology
PG  - 77--83
VI  - 38
IP  - 1
4099  - http://www.ajnr.org/content/38/1/77.short
4100  - http://www.ajnr.org/content/38/1/77.full
SO  - Am. J. Neuroradiol.2017 Jan 01; 38
AB  - SUMMARY: 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.ALSPadult-onset leukoencephalopathy with axonal spheroids and pigmented gliaCSF1Rcolony stimulating factor 1 receptorTORCH syndromeToxoplasmosis, Other agents, Rubella, Cytomegalovirus, and Herpes simplex