Clinical Presentation of Agenesis of Corpus Callosum Among Children in a Single Tertiary Care Center in Riyadh, Saudi Arabia

TL;DR

This study examines the clinical features and comorbidities of children with agenesis of the corpus callosum at a hospital in Riyadh, Saudi Arabia.

Contribution

The paper provides a detailed clinical profile of ACC cases in a Saudi Arabian pediatric population.

Findings

Most patients had dysmorphic features, developmental delay, and neurological comorbidities.

ACC rarely occurs in isolation and is often associated with multiple comorbidities.

MRI was the primary diagnostic tool used for ACC detection.

Abstract

One of the most prevalent brain structural disorders is agenesis of the corpus callosum (ACC). ACC happens when the primary commissural fiber tracts that link the brain hemispheres are absent entirely or partially due to a disturbance of neural cell migration during fetal growth. This research was conducted based on an analytical case-series design. Specifically, a chart review was done by using the patients' charts in King Abdullah Specialized Children's Hospital (KASCH), a tertiary governmental hospital in Riyadh, Saudi Arabia, from 2015 to 2022. A non-random, non-probability consecutive sampling technique was used for this research. Thirty-seven patients were included, comprising 16 males (43.2%) and 21 females (56.8%). The ages ranged from two to 13, with 14 patients being below five years old (37.8%), 20 patients between five years old and 10 years old (54.1%), and three patients above 10 years old (8.1%). Dysmorphic features were present in 25 patients (67.6%), developmental delay in 21 patients (56.8%), seizures in 10 patients (27%), vision impairment in 12 patients (32.4%), and hearing impairment in four patients (10.8%). Cardiac comorbidities were found in 18 patients (48.6%), gastrointestinal comorbidities in 18 patients (48.6%), respiratory comorbidities in 15 patients (40.5%), neurological comorbidities in 26 patients (70.3%), and nephrological comorbidities in 10 patients (27%). MRI was used as a diagnostic tool in 28 patients (75.7%), while nine patients (24.3%) used other diagnostic methods. All comorbidities do not have any significant association with the type of ACC. However, rarely does ACC occur in an isolated manner.

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