Semilobar holoprosencephaly

Case contributed by Dr Heba Abdelmonem

Presentation

A known case of semilobar holoprosencephaly previously diagnosed by antenatal ultrasound.

Patient Data

Age: 1 month
Gender: Male
MRI

Monoventricle with partially developed occipital and temporal horns, rudimentary falx cerebri, fusion of the thalami, agenesis of the anterior corpus callosum and incomplete formation of the interhemispheric fissure. Bilateral microphthalmia is also present.

 

Case Discussion

MRI features are consistent with semilobar holoprosencephaly with bilateral microphthalmia

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