Agenesis of the corpus callosum combined with cerebral abnormalities: Clinical and diagnostic features

Abstract

Background. Agenesis of the corpus callosum (ACC) is the total or partial absence of CC, one of the most common congenital brain malformations, with an incidence rate of 1.4 cases per 10,000 live births. Aim. To describe the clinical and diagnostic features of 4 patients with ACC. Materials and methods. Four patients with ACC aged 11, 12, 13, and 50 years were managed, of whom 3 were males, and 1 was a 13-year-old girl. All patients underwent a neurological examination, which assessed cognitive and mental disorders and electroencephalography. Patients underwent magnetic resonance imaging (MRI) in standard modes using a magnetic resonance imaging scanner with a magnetic field intensity of 1.5 T to detect damage to the brain's anatomical structure. Results. The disease was asymptomatic in 2 patients (a 50-year-old man and a 12-year-old boy). In the other 2 cases, there was an apparent neurological and cognitive deficit. The boy's parents and grandparents died of chronic alcoholism at the age of 11. During a neurological examination, he showed signs of damage to the pyramidal tract, as well as pronounced cognitive impairment with profound mental retardation, including delayed psycho-speech development. The 13-year-old girl suffers from severe mental retardation with speech impairment. In both cases, ACC was associated with epilepsy with a seizure frequency ranging from 6 times a year in the girl and up to 15 times a month in the boy. The gross neurological and cognitive deficits cause social difficulties since such patients need rehabilitation and ongoing care. In all cases, the diagnosis of ACC is based on the results of brain MRI, which is the method of choice. MRI enables assessment of the CC anatomical structure and the presence of other brain abnormalities. Complete agenesis was established in 3 cases, including a girl, and in one patient – a 12-year-old boy – partial agenesis with intact splenium was detected. In all patients, agenesis was combined with brain congenital malformations, namely with the absence of the septum pellucidum, interhemispheric and porencephalic cyst, basilar invagination, and venous malformation of the frontal lobe. Conclusion. ACC is a rare congenital brain malformation. According to the data, agenesis is more common in males. Complete ACC was diagnosed in 3 patients and partial ACC in 1. Risk factors include maternal alcohol consumption during pregnancy. The clinical presentation is diverse: from an asymptomatic course to severe cognitive impairment with severe and profound mental retardation, epilepsy, and autistic disorders with neurological deficits, including damage to the pyramidal tract. The primary diagnostic method is MRI, which detects anatomical changes in CC and other brain structures.