Macrocephaly: Solving the Diagnostic Dilemma

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Abstract

Macrocephaly is a relatively common clinical condition affecting up to 5% of the pediatric population. It is defined as an abnormally large head with an occipitofrontal circumference greater than 2 standard deviations above the mean for a given age and sex. Megalencephaly refers exclusively to brain overgrowth exceeding twice the standard deviation. Macrocephaly can be isolated and benign or may be the first indication of an underlying congenital, genetic, or acquired disorder, whereas megalencephaly is more often syndromic. Megalencephaly can be divided into 2 subtypes: metabolic and developmental, caused by genetic defects in cellular metabolism and alterations in signaling pathways, respectively. Neuroimaging plays an important role in the evaluation of macrocephaly, especially in the metabolic subtype which may not be overtly apparent clinically. This article outlines the diverse etiologies of macrocephaly, delineates their clinical and radiographic features, and suggests a clinicoradiological algorithm for evaluation.

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