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Agenesis of the corpus callosum with interhemispheric cyst: clinical implications and outcome


We describe two cases of agenesis of the corpus callosum (ACC) with interhemispheric cyst (IHC). Case 1: a male infant was born at 36 weeks gestation with a history of second trimester fetal ultrasound (US) scan and MRI showing ACC with IHC. His head circumference at birth and 5 months was at 90th centile. He developed infantile spasm and electroencephalogram showed hypsarrhythmia at 5 months of age. Seizures were controlled. He is under evaluation for surgical treatment. Case 2: ACC with a midline cyst was reported in the midtrimester US scan of a male infant. Subsequent fetal scans showed increasing size of the cyst. At birth, he had macrocephaly with a head circumference above 97th centile. MRI of the brain confirmed ACC with IHC. The parents refused a cystoperitoneal shunt offered. The child displayed gross neurodevelopmental delay with progressive hydrocephalus on follow-up and succumbed to aspiration pneumonia at 22 months of age.

  • neuroimaging
  • hydrocephalus
  • epilepsy and seizures

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