Presentation
Baby with cleft lip and palate
Patient Data
Age: Baby
Note: This case has been tagged as "legacy" as it no longer meets image preparation and/or other case publication guidelines.
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There is absence of septum pellucidum, flattening of roof of frontal horns, partially fused thalami and relative dilation of occipital horns cf frontal horns.
From the case:
Semilobar holoprosencephaly
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MRI findings include:
- partially absent anterior falx cerebri, partially fused thalami, frontal lobes and frontal horns, dysplastic interhemispheric fissure
- colpocephaly, absent septum pellucidum, dysgenesis of corpus callosum with only posterior body present
Case Discussion
Patient has semilobar holoprosencephaly.
Imaging findings of holoprosencephaly include fused thalami, absent septum pellucidum, third ventricle, falx cerebri and interhemispheric fissure. There may be associated absent corpus callosum, midline facial anomalies.
Midbrain, brainstem and cerebellum are usually normal.
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