Presentation
Microcephaly with early lag of milestones - to rule out structural anomalies.
Patient Data
MRI brain shows multiple features of semilobar holoprosencephaly as described below:
partial absence of anterior interhemispheric fissure and falx cereberi with fusion of bilateral frontal lobes (>50%)
obliteration of frontal horns and anterior bodies of bilateral lateral ventricles with monoventricle-like appearance
partial agenesis of corpus callosum with visualization of only splenium
absent olfactory bulbs
Case Discussion
Semilobar holoprosencephaly is characterized by varying degrees of fusion of the anterior cerebral hemispheres (usually >50% frontal lobe fusion is considered diagnostic) with absent anterior interhemispheric fissure and anterior bilateral ventricular fusion.
It is usually associated with partial or complete corpus callosal agenesis and olfactory bulb /tract absence.
Unable to process the form. Check for errors and try again.