Diagnostic Value of Brain Calcifications in Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia.
Takuya KonnoD F BroderickN MezakiA IsamiDaita KanedaY TashiroT TokutakeB M KeeganB K WoodruffT MiuraH NozakiMasatoyo NishizawaOsamu OnoderaZbigniew K WszolekTakeshi IkeuchiPublished in: AJNR. American journal of neuroradiology (2016)
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.
Keyphrases
- white matter
- contrast enhanced
- multiple sclerosis
- computed tomography
- working memory
- dual energy
- spinal cord injury
- functional connectivity
- image quality
- resting state
- magnetic resonance imaging
- optic nerve
- genome wide
- positron emission tomography
- magnetic resonance
- dna methylation
- copy number
- pregnant women
- convolutional neural network
- machine learning
- minimally invasive
- transcription factor
- blood brain barrier
- brain injury
- editorial comment
- preterm birth