Alobar holoprosencephaly

Case contributed by Ammar Haouimi
Diagnosis almost certain

Presentation

Increased head circumference

Patient Data

Age: 3 years
Gender: Male
mri

The MRI sequences demonstrate

  • a single midline monoventricle, communicating with a large dorsal cyst of holoprosencephaly which extends inferiorly and compresses the left cerebellar hemisphere with tonsilar herniation through the foramen magnum
  • absent midline structures (septum pellucidum, corpus callosum, interhemispheric fissure, and falx cerebri)
  • fused thalami
  • the frontal cerebral cortex crosses the midline anteriorly

Associated hypotelorism

Case Discussion

Case showing the MRI features of alobar holoprosencephaly with associated hypotelorism

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