Agenesis of the Corpus Callosum (ACC) is a rare congenital disorder in which the corpus callosum, the structure that connects the two hemispheres of the brain, is partially or completely absent. This condition occurs when the corpus callosum fails to develop normally during fetal development.

Causes

ACC can be caused by a variety of factors, including:

• Genetic abnormalities or mutations
• Chromosomal abnormalities (such as trisomy 8, trisomy 13, or trisomy 18)
• Intrauterine infections or exposure to teratogens
• Disruptions in the normal developmental processes of the fetal brain

Symptoms

The symptoms of ACC can vary widely from mild to severe, and some individuals may be asymptomatic. Common symptoms include:

• Developmental delays, particularly in motor skills and cognitive functions
• Seizures
• Poor muscle tone and coordination
• Intellectual disabilities
• Social and behavioral difficulties
• Feeding problems in infants

Diagnosis

ACC is typically diagnosed through imaging studies, such as:

• Prenatal ultrasound (may detect abnormalities in the brain structure)
• Magnetic resonance imaging (MRI) after birth to confirm the absence or malformation of the corpus callosum

Treatment

There is no cure for ACC, and treatment focuses on managing symptoms and improving quality of life. Treatment options may include:

• Physical therapy to improve motor skills and coordination
• Speech therapy for language and communication difficulties
• Occupational therapy to assist with daily activities
• Medications to control seizures
• Special education services and support for cognitive and behavioral challenges

Prognosis

The prognosis for individuals with ACC varies widely depending on the severity of the condition and the presence of associated abnormalities or syndromes. Some individuals lead relatively normal lives with minor impairments, while others may have significant disabilities and require lifelong support.