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

Area of Science:

• Neuroscience
• Developmental Biology
• Medical Genetics

Background:

• Agenesis of the corpus callosum (ACC) is a prevalent congenital brain malformation.
• It results from disrupted neural cell migration during fetal development, affecting interhemispheric connectivity.
• ACC can manifest with a spectrum of neurological and physical abnormalities.

Purpose of the Study:

• To investigate the clinical characteristics and comorbidities associated with agenesis of the corpus callosum (ACC) in a pediatric cohort.
• To analyze the prevalence of associated features such as dysmorphic features, developmental delay, and sensory impairments.
• To examine the spectrum of comorbidities, including cardiac, gastrointestinal, respiratory, neurological, and nephrological conditions.

Main Methods:

• An analytical case-series study design was employed.
• Patient charts from King Abdullah Specialized Children's Hospital (KASCH) between 2015 and 2022 were reviewed.
• A consecutive sampling technique included 37 pediatric patients diagnosed with ACC.

Main Results:

• The cohort comprised 16 males (43.2%) and 21 females (56.8%), aged 2-13 years.
• Commonly observed features included dysmorphic features (67.6%), developmental delay (56.8%), seizures (27%), and vision impairment (32.4%).
• High rates of comorbidities were noted: neurological (70.3%), cardiac (48.6%), gastrointestinal (48.6%), and respiratory (40.5%).

Conclusions:

• Agenesis of the corpus callosum (ACC) is frequently associated with significant developmental and neurological issues, alongside a high burden of comorbidities.
• These comorbidities, including cardiac, gastrointestinal, respiratory, and neurological conditions, did not show a significant association with the type of ACC.
• ACC rarely occurs in isolation, underscoring the need for comprehensive multidisciplinary evaluation in affected individuals.