HECW2 Gene Mutation: A Rare Cause of West Syndrome: A Case Report

Exome sequencing has opened a pandora of de novo mutations associated with infantile epileptic encephalopathies. Triad of floppiness, tonic eye deviations, and infantile spasms in an infant with dysmorphic features may provide clinical clue toward the diagnosis of HECW2 mutation, which are associated with developmental delay and early onset epilepsies. We describe an infant with a pathogenic HECW2 gene variation who presented with excessive floppiness, global delay, tonic eye deviations, and epileptic spasms treated with a combination of adrenocorticotropic hormone and modified Atkin's diet. It may be beneficial in case of pharmacoresistance with improvement of neurodevelopmental outcome.