When Is Enlargement of the Subarachnoid Spaces Not Benign? A Genetic Perspective

Enlargement of the subarachnoid spaces is occasionally encountered during neuroimaging of children. This enlargement is generally regarded as a nonpathologic process that resolves uneventfully. However, there are several genetic disorders in which enlargement of the subarachnoid spaces can be an early sign, or the feature of an associated syndrome, that may aid in the underlying diagnosis. Recognizing subarachnoid space enlargement in these circumstances requires an understanding of the normal physiology of the subarachnoid space at different time points in a child’s neurodevelopment. This article reviews the events shaping the subarachnoid space, both during normal physiologic maturation and in specific genetic disorders.