Anomalies of the Corpus Callosum: An MR Analysis of the Phenotypic Spectrum of Associated Malformations

Abstract

We sought to categorize the structural brain anomalies associated with abnormalities of the corpus callosum and anterior and hippocampal commissures in a large cohort. Brain MR images of adult and pediatric patients from our institution and from a national support organization (the ACC Network) were retrospectively evaluated for the type and severity of commissural anomalies and the presence and type of other structural abnormalities. Of 142 cases that were reviewed, 82 patients had agenesis of the corpus callosum (ACC), while 60 had hypogenesis of the corpus callosum (HCC). Of the overall cohort, almost all had reduced white matter volume outside the commissures, the majority had malformations of cortical development (most commonly heterotopia or abnormal sulcation), many had noncallosal midline anomalies (including abnormal anterior or hippocampal commissures and interhemispheric cysts and lipomas), and several patients had abnormalities of the cerebellum or brainstem. Sixty-six patients had Probst bundles, which were more common in patients with ACC than in those with HCC. Probst bundles were present in all four patients who had ACC or HCC but no other midline, cortical, or posterior fossa anomalies. Isolated commissural anomalies were rare in the populations of patients examined. Most cases of ACC and HCC were associated with complex telencephalic, diencephalic, or rhombencephalic malformations. Reduced cerebral hemispheric white matter volume and malformations of cortical development were seen in more than half of the patients, suggesting that many commissural anomalies are part of an overall cerebral dysgenesis. ACC and HCC appear to lie along a dysgenetic spectrum, as opposed to representing distinct disorders.