Diagnostic value of brain calcifications in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia

T. Konno, D. F. Broderick, N. Mezaki, A. Isami, D. Kaneda, Y. Tashiro, T. Tokutake, B Mark Keegan, Bryan K Woodruff, T. Miura, H. Nozaki, M. Nishizawa, O. Onodera, Zbigniew K Wszolek, T. Ikeuchi

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Abstract

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 andMR 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.

Original languageEnglish (US)
Pages (from-to)77-83
Number of pages7
JournalAmerican Journal of Neuroradiology
Volume38
Issue number1
DOIs
StatePublished - Jan 1 2017

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ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Clinical Neurology

Cite this

Konno, T., Broderick, D. F., Mezaki, N., Isami, A., Kaneda, D., Tashiro, Y., Tokutake, T., Keegan, B. M., Woodruff, B. K., Miura, T., Nozaki, H., Nishizawa, M., Onodera, O., Wszolek, Z. K., & Ikeuchi, T. (2017). Diagnostic value of brain calcifications in adult-onset leukoencephalopathy with axonal spheroids and pigmented glia. American Journal of Neuroradiology, 38(1), 77-83. https://doi.org/10.3174/ajnr.A4938