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Semilobar holoprosencephaly

Case contributed by Dr Ruslan Asadov
Diagnosis almost certain

Presentation

Facial anomalies and mental retardation.

Patient Data

Age: 5 years
Gender: Male

Note: This case has been tagged as "legacy" as it no longer meets image preparation and/or other case publication guidelines.

CT brain

ct

Axial non-contrast CT of the brain (with thick slice sagittal reformat) demonstrates fused frontal lobes with absent anterior part of the falx cerebri. There is also absence of the septum pellucidum with fusion of the lateral ventricles with rudimentary occipital and temporal horns, with a prominent dorsal cyst. 

Case Discussion

This case demonstrates features consistent with semilobar holoprosencephaly.

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