Perineal stimulation triggering seizures in a child with Dravet syndrome

The index case is a 3-year old boy with Dravet syndrome (de novo mutation in SCN1A gene; p.Ala889Thr [A889 T] variant) born to a non-consanguineous couple of south Indian origin. After an unremarkable early infancy, he presented with infrequent unprovoked hemi-clonic and generalized tonic-clonic seizures at 5 months of age. These were relatively controlled on oral low dose valproate. He had mild delay but could walk with support and spoke 4-5 words at 18 months of age. At 18 months of age, he sustained head trauma; he was dropped down from the lap while leaving the car.

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