Spectrum of abnormalities  

• Complete agenesis- corpus callosum is totally absent
• Partial agenesis- anterior horn is formed, but the posterior horn of corpus callosum is not formed.
• Atypical agenesis- occurs when anterior and posterior formation is not respected.

Signs and symptoms

Corpus callosum allows the sharing of learning and memory between the 2 cerebral hemispheres.

Small proportions of patients are completely asymptomatic

• Seizures
• Impaired hand-eye coordination
• Repetitive speech
• Low muscle tone and poor coordination
• Headache
• Visual impairments
• Feeding problems
• Developmental delays- sitting and walking, delayed toilet training, and chewing and swallowing difficulties.
• Mental retardation
• Physical development impairment
• Macrocephaly resulting in Hydrocephalus

Associated syndromes and conditions

Agenesis of the corpus callosum may occur as an isolated defect, but it is frequently associated with other CNS malformations, chromosomal trisomy, and genetic syndromes.

• CNS anomalies
• Dandy-Walker cyst
• Hydrocephalus
• Midline lipoma of corpus callosum
• Arnold-Chiari malformation
• Porencephaly
• Holoprosencephaly
• Fetal alcohol syndrome
• Acardi syndrome
• Anderman syndrome
• Cardiovascular anomalies

Tests and diagnosis

CT brain- reveals parallel ventricles and continuation of the interhemispheric fissure with the third ventricle

MRI brain- clearly demonstrates the exact extent of callosal dysgenesis.

Antenatal ultrasound

• Antenatal diagnosis of agenesis of the corpus callosum is possible from about 20 weeks' gestation.
• Endovaginal ultrasound also contributes to the antenatal diagnosis of agenesis.
• Significant findings are enlarged horns, parallel and widely separated bodies of lateral bodies, enlarged and upwardly displaced third ventricle, and absent corpus Callosum.

Treatment

• Currently there are no specific medical treatments for callosal disorders
• Callosal disorders benefit from a range of developmental therapies, educational supports and services
• Consultation with neurologists, neuropsychologists, occupational therapists, physical therapists, speech-language pathologists, and pediatricians