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2016 ; 89
(1
): 56-64
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Neuroimaging in pediatric phakomatoses An educational review
#MMPMID27004026
Raus I
; Coroiu RE
; Capusan CS
Clujul Med
2016[]; 89
(1
): 56-64
PMID27004026
show ga
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.