Agenesis of the corpus callosum: Difference between revisions
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Agenesis of the corpus callosum | {{SI}} {{Infobox medical condition | ||
| name = Agenesis of the corpus callosum | |||
[[ | | image = [[File:Agenesis.jpg|250px]] | ||
| caption = MRI showing agenesis of the corpus callosum | |||
| field = [[Neurology]] | |||
| symptoms = [[Developmental delay]], [[seizures]], [[intellectual disability]], [[motor coordination problems]] | |||
| complications = [[Hydrocephalus]], [[epilepsy]], [[autism spectrum disorder]] | |||
| onset = Congenital | |||
| duration = Lifelong | |||
| causes = Genetic mutations, prenatal infections, environmental factors | |||
| risks = Family history, prenatal exposure to toxins | |||
| diagnosis = [[MRI]], [[CT scan]], [[ultrasound]] | |||
| differential = [[Holoprosencephaly]], [[lissencephaly]], [[schizencephaly]] | |||
| treatment = Symptomatic treatment, [[physical therapy]], [[occupational therapy]], [[speech therapy]] | |||
| prognosis = Varies depending on associated conditions | |||
| frequency = 1 in 4,000 individuals | |||
}} | |||
==Pathophysiology== | ==Pathophysiology== | ||
In ACC the corpus callosum is partially or completely absent. | In ACC the corpus callosum is partially or completely absent.   | ||
==Cause== | ==Cause== | ||
It is caused by a disruption of brain cell migration during fetal development. | It is caused by a disruption of brain cell migration during fetal development. | ||
==Associated conditions and syndromes== | ==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.) | 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== | ==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. | 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. | ||
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==Midface defects== | ==Midface defects== | ||
ACC can also be associated with malformations in other parts of the body, such as midline facial defects. | ACC can also be associated with malformations in other parts of the body, such as midline facial defects. | ||
==Prognosis== | ==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]]. | 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== | ==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. | 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== | ==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. | 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== | ==Incidence== | ||
It is estimated that at least one in 4,000 individuals has a disorder of the [[corpus callosum]]. | It is estimated that at least one in 4,000 individuals has a disorder of the [[corpus callosum]]. | ||
{{stub}} | {{stub}} | ||
{{neurology}} | {{neurology}} | ||
==External links== | ==External links== | ||
{{wp}} | {{wp}} | ||
{{uptodate}} | {{uptodate}} | ||
{{Congenital malformations and deformations of nervous system}} | {{Congenital malformations and deformations of nervous system}} | ||
{{DEFAULTSORT:Agenesis Of The Corpus Callosum}} | {{DEFAULTSORT:Agenesis Of The Corpus Callosum}} | ||
[[Category:Congenital disorders of nervous system]] | [[Category:Congenital disorders of nervous system]] | ||
[[Category:Corpus callosum]] | [[Category:Corpus callosum]] | ||
Latest revision as of 22:07, 5 April 2025

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| 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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External links


| Congenital malformations and deformations of nervous system | ||||||||||
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