We report a 4-year-old child with severe semi-lobar holoprosencephaly (HPE) not expected to survive after birth. Magnetic resonance imaging (MRI) revealed agenesis of the corpus callosum, absence of the third ventricle, fused thalami and basal ganglia. To investigate sensory function, visual, auditory and somatosensory evoked potential and imaging studies were carried out. The visual response evoked by human face stimuli evoked larger responses over the left side of the holosphere as compared to responses evoked by checkerboard pattern, while auditory evoked potentials were evident over the frontal regions to both pure tones and speech stimuli. No consistent scalp somatosensory evoked potentials were evident. This case demonstrates that electrophysiological measures are able to identify and quantify sensory processing not expected to be present based on the anatomical presentation of the cortex in a child with severe HPE.
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