title: Inherited white matter disorders of childhood: a magnetic resonance imaging-based pattern recognition approach.
abstract: Inherited white matter disorders of childhood (WMDC) refer to a broad group of progressive inherited disorders that exclusively or predominantly affect myelin formation and/or maintenance. They are often in the form of neurological deficits, developmental delay, or frank encephalopathy and are difficult to diagnose clinically. The imaging diagnostic approach for the WMDC is difficult and demands knowledge of neuroimaging features, age of onset of the disease, genetic pattern, and recognition of the most important clinical findings. Unfortunately, the variability and evolving patterns of imaging findings, combined with the continual discovery of new metabolic diseases, make establishing a diagnosis difficult for radiologists who lack experience in the imaging of suspected metabolic diseases. The goal of this article was to present a structured neuroimaging approach to inherited WMDC based on the most discriminating magnetic resonance imaging features as the starting point to create a list of the most probable diagnoses.
authors.affiliation: From the Department of Internal Medicine, Universidade Federal do Rio Grande do Sul; and Radiology Service, Hospital de Clinicas de Porto Alegre and Hospital Moinhos de Vento, Porto Alegre, Brazil.
authors.forename: Leonardo
authors.initials: L
authors.lastname: Vedolin
mesh_terms: D001185:Artificial Intelligence; D001921:Brain / Q000473:pathology*; D002648:Child; D056324:Diffusion Tensor Imaging / Q000379:methods*; D005260:Female; D006801:Humans; D007090:Image Interpretation, Computer-Assisted / Q000379:methods; D056784:Leukoencephalopathies / Q000235:genetics* / Q000473:pathology*; D008297:Male; D009413:Nerve Fibers, Myelinated / Q000473:pathology*; D010363:Pattern Recognition, Automated / Q000379:methods*; D015203:Reproducibility of Results; D012680:Sensitivity and Specificity; D066127:White Matter / Q000473:pathology*