title: 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.
authors.affiliation: Radiology Department, Dr. Constantin Papilian Military and Emergency Hospital of Cluj-Napoca, Romania.
authors.forename: Iulian
authors.initials: I
authors.lastname: Raus
authors.affiliation: Radiology Department, Iuliu Hatieganu University of Medicine and Pharmacy of Cluj-Napoca, Romania.
authors.forename: Roxana Elena
authors.initials: RE
authors.lastname: Coroiu
authors.affiliation: Radiology Department, Dr. Constantin Papilian Military and Emergency Hospital of Cluj-Napoca, Romania.
authors.forename: Cosmin Serban
authors.initials: CS
authors.lastname: Capusan
keywords: computer tomography; magnetic resonance imaging; neurofibromatosis; phakomatoses; white matter diseases