Neuroimaging in pediatric phakomatoses. An educational review

Abstract

Phakomatoses are a group of more than 30 entities with an inheritance pattern that primarily affects the central nervous system, skin, viscera and connective tissue. The aim of this paper is to make an educational review of the most common radiological findings on phakomatoses through the iconography of the cases collected in our magnetic resonance imaging (MRI) and computer tomography (CT) units over the last ten years. Also, we describe and illustrate by these techniques the main features of the most common entities within the wide spectrum of diseases. As highly variable and age dependent, imaging techniques have an important role in the diagnosis and follow-up of these patients. Increased awareness for the need to implement and conduct screening programs could be considered as a solution to prevent late diagnosis and to treat the patients in early stages of disease.