What is Agenesis of the Corpus Callosum?

Agenesis of the Corpus Callosum is a disorder of the brain that presents itself at birth in which the Corpus Callosum or the structure which connects the two hemispheres of the brain is partially or completely absent. Agenesis of the Corpus Callosum may be an isolated condition or it may occur in association with certain other disorders of the brain to include Arnold-Chiari Malformation, Dandy-Walker syndrome, Andermann syndrome, and schizencephaly. Agenesis of the Corpus Callosum can also be associated with certain malformations in other parts of the body as well like a facial defect.

The affects of Agenesis of the Corpus Callosum is variable and may range from mild to severe. In the mild form, the intelligence of the child may be normal with only subtle deficiencies but in severe cases the affected child may have severe brain malformations, have intellectual impairment, have persistent seizures, hydrocephalus, and spasticity.

What is Agenesis of the Corpus Callosum?

What are the Causes of Agenesis of the Corpus Callosum?

The cause as to why Agenesis of the Corpus Callosum occurs is not yet known but in majority of the cases it is inherited. Agenesis of the Corpus Callosum is an autosomal recessive trait meaning that only one copy of the defective gene is enough for development of this condition. Agenesis of the Corpus Callosum may also occur due to some type of infection to the mother during pregnancy causing abnormal development of brain of the child and resultant Agenesis of the Corpus Callosum.

What are the Symptoms of Agenesis of the Corpus Callosum?

The signs of Agenesis of the Corpus Callosum may become evident within first few weeks of life of the infant with the onset of frequent epileptic seizures, although having seizures is not a sure shot sign of Agenesis of the Corpus Callosum. The child with Agenesis of the Corpus Callosum will have problems with feeding. The child will also have delays in achieving milestones like holding the head erect, sitting, standing, and walking. Another classic symptom of Agenesis of the Corpus Callosum is the development of hydrocephalus. The affected child will also have impaired hand-eye coordination, and will also have visual, hearing, and memory impairment. Some children with Agenesis of the Corpus Callosum will have deep-set eyes and a prominent forehead. Some children with Agenesis of the Corpus Callosum may also have microcephaly or in some cases macrocephaly. In some cases of Agenesis of the Corpus Callosum, the child may have a delay in growth of teeth.

How is Agenesis of the Corpus Callosum Diagnosed?

How is Agenesis of the Corpus Callosum Diagnosed?

The visible symptoms that are mentioned above may point towards Agenesis of the Corpus Callosum but to make a confirmatory diagnosis the doctor will order a CT or an MRI scan of the brain. These studies will clearly show an absence of the Corpus Callosum and thus confirm the diagnosis of Agenesis of the Corpus Callosum.

How is Agenesis of the Corpus Callosum Treated?

There is no cure for Agenesis of the Corpus Callosum and hence treatment is mostly symptomatic and supportive. To prevent frequent bouts of seizure, the child will be given antiepileptics. Apart from this, to counter the mental and physical impairments, the child will be given special education so that as the child grows he or she is able to somewhat take care of himself or herself and be somewhat independent. For treatment of hydrocephalus, a surgical shunt may be used to drain the fluid from the brain and thus lowering the pressure on the brain. Apart from this, genetic counseling is quite helpful to families dealing with Agenesis of the Corpus Callosum.

What is the Prognosis of Agenesis of the Corpus Callosum?

The prognosis of Agenesis of the Corpus Callosum depends on the degree and severity of the malformations present. Agenesis of the Corpus Callosum is not a life threatening condition and does not affect the life span of the patient in any way but it leaves the child with severe disability some of which may be permanent, although in many cases it is seen that children have average intelligence and lead a normal life despite dealing with Agenesis of the Corpus Callosum.

Written, Edited or Reviewed By:

, MD, FFARCSI

Last Modified On: October 12, 2016

Pain Assist Inc.

Pramod Kerkar
  Note: Information provided is not a substitute for physician, hospital or any form of medical care. Examination and Investigation is necessary for correct diagnosis.

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