Microdeletion 3q13.31 and Agenesis of the Corpus Callosum in a Patient with Intellectual Disability and Autism Spectrum Disorder: A Case Report

Abstract

Total agenesis of the corpus callosum (ACC) is a rare condition characterized by the absence of corpus callosum formation during fetal development. It can occur in isolation or be associated with congenital syndromes, including the emerging microdeletion syndrome 3q13.31. This syndrome, caused by a deletion in the long arm of chromosome 3, presents with developmental delay, growth abnormalities, craniofacial dysmorphology, skeletal malformations, genital anomalies, and agenesis of the corpus callosum. The case of a 7½-year-old boy with microdeletion 3q13.31 is described, highlighting common clinical manifestations observed in this syndrome. The patient exhibited delayed psychomotor development, language delay, autism spectrum disorder, intellectual disability, facial dysmorphology, and agenesis of the corpus callosum. Comparison with existing literature showed similarities in features such as delayed development, language delays, intellectual disability, and brain anomalies. The 3q13.31 microdeletion syndrome encompasses a wide range of clinical phenotypes, and the identification of responsible genes contributes to understanding the condition, although treatment remains challenging.