A case series of agenesis of the corpus callosum in children - Clinical and neuroimaging correlation with aspects of neuropathophysiology

Abstract

The corpus callosum is the largest connective fiber between two hemispheres and a crucial structure for the integrated cerebral function of the normal brain. The study of agenesis of the corpus callosum (ACC) develops insights into neurodevelopmental delays and autism in children.  This is a case series of eight children with ACC confirmed by a neuroimaging in a teaching hospital. The clinico-neuroradiological profile of ACC were studied retrospectively and reviewed clinical correlation with neuroradioimaging in the light of neuropathophysiology knowledge.The study group was appeared as nonsyndromic. Every subject had a normal chromosomal study by karyotyping. These ACC patients neither had a specific recognizable syndrome nor the constellation of malformations are indicative of a disorder. The mean age of subjects was 21.3 months, and no predilection for gender. The global developmental delay was the most common presentation found in seven ACC (87.5%) children. The second commonest, four ACC (50%) patients, was seizure. Two ACC (25%) had colpocephaly. Five ACC children (62.5%) had somatic anomalies; four ACC (50%) patients had cardiac defects.ACC children present a poor neurodevelopmental outcome. The extracallosal brain anomaly determines a worse neurological prognosis in nonsyndromic ACC. Grey matter heterotopia in neuroimaging was associated with seizure in ACC children. However, colpocephaly along with ACC may present with normal neurodevelopment. Hence, ACC in neuroimaging may have not predicted the final neurological outcome.ACC children with normal karyotyping may have somatic malformations. Moreover, echocardiography can be considered an initial routine screening in nonsyndromic ACC children.