Association of Corpus Callosum Agenesis with Mental Retardation and Attention Deficit Hyperactivity Disorder

摘要

Aims: Anomalies of the corpus callosum have been associated with varied brain and somatic malformations. It has been associated with diverse genetic causes with identifiable syndromes. We aim to report a case of corpus callosal agenesis (CCA) associated with mental retardation and hyperactivity. Presentation of case: We report case of a 7 year old boy having CCA, abnormal facial morphological features, mental retardation and attention deficit hyperactivity disorder (ADHD), devoid of any chromosomal rearrangements or somatic malformations known to be associated with corpus callosal changes. Discussion: Symptoms in CCA are often related to concurrent migrational disorders, not to the callosal anomaly itself. Although multiple genetic etiologies have been associated, no single gene has been proved to be implied in all cases of CCA. Conclusion: This case highlights importance of recognizing mental retardation and ADHD as a presentation of isolated CCA which may occur without any known chromosomal malformation.