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.
Paciorkowski
Alex R
AR
Department of Genetics and Developmental Biology, Division of Human Genetics, University of Connecticut Health Center, West Hartford, Connecticut 06119, USA. apaciorkowski@resident.uchc.edu
Greenstein
Robert M
RM
D000130:Achondroplasia / Q000453:epidemiology; D002648:Child; D019465:Craniofacial Abnormalities / Q000453:epidemiology / Q000235:genetics; D005977:Glutarates / Q000652:urine; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D008279:Magnetic Resonance Imaging; D013346:Subarachnoid Space / Q000033:anatomy & histology* / Q000254:growth & development*; D013577:Syndrome; D009626:Terminology as Topic
D005977:Glutarates; C035736:glutaric acid