Corpus callosum agenesis

Discussion:

One-year-old boy had a seizure episode, known to have developmental delay. The consultant neurologist requested a brain MRI, revealed complete absence of the corpus callosum.

Lateral ventricles, run parallel giving "racing car appearance" on axial imaging, dilated occipital horns (colpocephaly) on coronal imaging gives the characteristic "Texas longhorn/Moose head/Viking helmet" appearance. Dilated high-riding third ventricle appears to communicate with the interhemispheric cistern.

Dysgenesis of the corpus callosum could be complete "agenesis" or partial. Isolated partial dysgenesis of the corpus callosum is often asymptomatic. In some mild cases, symptoms may not appear for many years. The clinical picture in other cases is dictated by the associated abnormalities that are frequently found, especially in the case of complete agenesis. It is associated with aneuploidy, non-aneuploidy, other CNS associations and inborn error of metabolism. 

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