Unusual presentation of cerebral dysgenesis in a neonate

Hyperekplexia is a rare non-epileptic disorder characterized by an exaggerated persistent startle reaction to unexpected auditory, somatosensory, and visual stimuli, generalized muscular rigidity, and the clinical hallmark-positive nose tapping test. Subtle structural brain anomalies have so far been reported only in adults with hyperekplexia. The case of a neonate with hyperekplexia and underlying cerebral dysgenesis is reported. Subsequent occurrences of refractory seizures lead to withdrawal of medical support followed by death. Awareness of the possibility of an underlying cerebral malformation is important from the management and prognostic point of view in a neonate presenting with hyperekplexia.