Alobar holoprosencephaly

Case contributed by Ammar Haouimi
Diagnosis almost certain

Presentation

Increased head circumference with cleft lip and palate

Patient Data

Age: 20 months
Gender: Female
mri
This study is a stack
Sagittal
T1
This study is a stack
Axial
FLAIR
This study is a stack
Axial
T2
This study is a stack
Coronal
T2
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Info

The MRI demonstrates a large dorsal monoventricle of CSF signal on all sequences with fused thalami and thin frontotemporal cerebral cortex crossing the midline anteriorly. The lateral and third ventricles are absent as well as the midline structures (septum pellucidum, corpus callosum,  interhemispheric fissure, and falx cerebri). 

Associated craniofacial anomalies include:

  • cleft lip and palate
  • hypotelorism  
  • underdeveloped nose

 

Case Discussion

MRI features of an alobar holoprosencephaly with associated craniofacial anomalies

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