Morphometric variability of neuroimaging features in children with agenesis of the corpus callosum

Abstract

Background: Agenesis of the corpus callosum (ACC) is a developmental brain malformation associated with a wide spectrum of structural brain abnormalities and genetic loci. To characterize the diverse callosal morphologies and malformations of brain development associated with ACC, we report on the neuroimaging findings of 201 individuals diagnosed with corpus callosal abnormalities.

Methods: We searched through medical records of individuals seen at New York Presbyterian Hospital between 2002 and 2013 and thought to have ACC. We confirmed 201 individuals meeting criteria and used magnetic resonance imaging to characterize morphological variants of the corpus callosum and associated brain malformations.

Results: The majority of individuals displayed hypoplasia or dysplasia of the corpus callosum (N = 160, 80 %). Forty-one (20 %) displayed complete agenesis of the corpus callosum with other abnormalities, while only 18 (9 %) displayed complete agenesis without associated brain abnormalities. White matter abnormalities were more frequent in hypoplasia or dysplasia group than complete agenesis (28.2 % vs 9.8 %, p < 0.05). In contrast, hippocampal abnormalities, colpocephaly, and Probst bundles were significantly more frequent in complete agenesis compared to hypoplasia or dysplasia group.

Conclusions: Collectively, our results underscore the broad diversity of morphological variants of the corpus callosum and associated brain abnormalities in individuals with ACC.

Fig. 1

Flow chart of how records of 808 individuals were reviewed from the NYPH medical record system with a diagnosis of agenesis of the corpus callosum between 2003 and 2013. 284 (35 %) patients were excluded due to the lack of MRI imaging, 127 (16 %) because there was no evidence of a corpus callosum abnormality, 196 (24 %) because the abnormality was considered secondary to other causes leaving 201 individuals for detailed review of the characteristics of agenesis of the corpus callosum

Fig. 2

Sagittal MRI images displaying classes and subclasses of corpus callosum abnormalities. Classes of corpus callosum abnormalities denoted in capital letters, subclasses in italics. Number and percentage of patients are displayed for each subclass. a Normal brain (b) hypoplasia without dysplasia (c) apple core (d) anterior remnant (e) rudimentary body (f) striped (g) kinked (h) complete agenesis (i) dysplasia