Agenesis of the corpus callosum

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Agenesis of the corpus callosum
Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Developmental delay, seizures, intellectual disability, motor coordination problems
Complications	Hydrocephalus, epilepsy, autism spectrum disorder
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Genetic mutations, prenatal infections, environmental factors
Risks	Family history, prenatal exposure to toxins
Diagnosis	MRI, CT scan, ultrasound
Differential diagnosis	Holoprosencephaly, lissencephaly, schizencephaly
Prevention	N/A
Treatment	Symptomatic treatment, physical therapy, occupational therapy, speech therapy
Medication	N/A
Prognosis	Varies depending on associated conditions
Frequency	1 in 4,000 individuals
Deaths	N/A

Pathophysiology

In ACC the corpus callosum is partially or completely absent.  

Cause

It is caused by a disruption of brain cell migration during fetal development.

Associated conditions and syndromes

ACC can occur as an isolated condition or in combination with other cerebral abnormalities, including Arnold-Chiari malformation, Dandy-Walker syndrome, schizencephaly (clefts or deep divisions in brain tissue), and holoprosencephaly (failure of the forebrain to divide into lobes.)

Gender differences

Girls may have a gender-specific condition called Aicardi syndrome, which causes severe cognitive impairment and developmental delays, seizures, abnormalities in the vertebra of the spine, and lesions on the retina of the eye.

Midface defects

ACC can also be associated with malformations in other parts of the body, such as midline facial defects.

Prognosis

The effects of the disorder range from subtle or mild to severe, depending on associated brain abnormalities. Children with the most severe brain malformations may have intellectual impairment, seizures, hydrocephalus, and spasticity.  

Associated disorders

Other disorders of the corpus callosum include dysgenesis, in which the corpus callosum is developed in a malformed or incomplete way, and hypoplasia, in which the corpus callosum is thinner than usual.  

Hearing deficits

Individuals with these disorders have a higher risk of hearing deficits and cardiac abnormalities than individuals with the normal structure. Impairments in social interaction and communication in individuals having a disorder of the corpus callosum may overlap with autism spectrum disorder behaviors.  

Incidence

It is estimated that at least one in 4,000 individuals has a disorder of the corpus callosum.

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External links

• Comprehensive information from the National Institute of health.
  

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