Neuroimaging of phakomatoses: overview and advances.
The phakomatoses are disorders characterized by multiple hamartomas and other congenital malformations affecting mainly the skin and the central and peripheral nervous systems. Many affected individuals have an increased genetic susceptibility to develop malignancies. Imaging is central in the diagnosis of many of the phakomatoses, and MRI is used as a screening tool in many children with known neurocutaneous disorders. This manuscript addresses the three most common (neurofibromatosis type 1, tuberous sclerosis complex, Sturge-Weber syndrome) and focuses on pathophysiological and radiologic insights that have emerged in the last few years.
Departments of Radiology and Pediatrics, Division of Neuroradiology, Children's National Medical Center, The George Washington University School of Medicine and Health Sciences, 111 Michigan Ave. N.W., Washington, DC, 20010-2970, USA, gvezina@childrensnational.org.
Gilbert
G
Vézina
D001927:Brain Diseases / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007089:Image Enhancement / Q000379:methods; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D020752:Neurocutaneous Syndromes / Q000473:pathology; D009456:Neurofibromatosis 1 / Q000473:pathology*; D013341:Sturge-Weber Syndrome / Q000473:pathology*; D014402:Tuberous Sclerosis / Q000473:pathology*