Semi-lobar holoprosencephaly

Case contributed by Dr J Yeung

Presentation

Baby with cleft lip and palate

Patient Data

Age: Baby
Modality: Ultrasound

There is absence of septum pellucidum, flattening of roof of frontal horns, partially fused thalami and relative dilation of occipital horns cf frontal horns.

Modality: MRI

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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Case Information

rID: 14603
Case created: 9th Aug 2011
Last edited: 18th Dec 2015
Inclusion in quiz mode: Included

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