Holoprosencephaly - semilobar type

Case contributed by Ahmed Abdrabou


Failure to thrive and delayed developmental milestones

Patient Data

Age: 5 months old
Gender: Female

MRI shows the following findings:-

  • The interhemispheric fissure is defective anteriorly.
  • Fused basal ganglia while the thalami are not fused.
  • Absent frontal horns and anterior body of both lateral ventricles.. the rest of lateral ventricles are fused posteriorly.
  • Absent rostrum, genu and anterior body of corpus callosum.
  • Fused frontal lobes leaving only small area of communication for white matter to cross the midline (other than corpus callosum) best seen on DWI.

Case Discussion

Holoprosencephaly is rare congenital anomaly results from incomplete separation of the brain into two hemispheres. it is classified as alobar, semilobar or lobar types.

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