Agenesis of the corpus callosum

Binodini M. Chauhan, MD.

Surat, India.

Case report

This is a case of a 30-year-old G4 P3 with non-contributive family or personal history. She was referred to our department for a second opinion ultrasound for findings of ventriculomegaly. Patient was scanned at 29 weeks of gestation.  

They were following ultrasound findings:

  • Colpocephaly, dilated posterior horns of the lateral ventricles, tear - drop shaped lateral ventricles
  • Widened interhemispheric fissure, small interhemispheric cyst
  • Absent cavum septum pellucidum
  • Absent pericallosal artery and corpus callosum on midsagittal views

The findings were suggestive of agenesis of the corpus callosum.

Agenesis of corpus callosum is associated with an increased number of neural and extraneural malformations and chromosomal anomalies. It may be part of the genetic syndrome. Isolated finding may be completely asymptomatic or may have only subtle cognitive defects but also severe neurological impairment.

We suggested a karyotyping of the fetus and postnatal MRI of the brain.

Patient decided for pregnancy termination based on the ultrasound findings.

Images 1,2: Axial scan of the fetal brain, note absent cavum septum pellucidum. Image 2 shows widened interhemispheric fissure. Posterior horns are asymmetrically dilated comparing to frontal horns.

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Images 3,4: Axial view, note absent cavum septum pellucidum.

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Images 5,6: Mid-sagittal view on image 6 shows absent corpus callosum. Image 6 shows an interhemispheric cyst.

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Images 7,8: Colpocephaly, asymmetric dilation of the lateral ventricles, dilated posterior horns comparing to the normal size of the anterior horns.

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Images 9,10: Image 9 shows a mid-sagittal view with absent corpus callosum. Image 10 shows an absent pericallosal artery which is an useful marker in diagnostics of agenesis of corpus callosum.

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