Shwartz Jampel Syndrome: Rarest of the Rarest Case/A Rare Cause of Blepharospasm

Abstract

We report a case of 4 year old girl presenting with the inability to open her left eye, which was identified as blepharospasm. She was also found to have pursed lips, micrognathia and puckered facial appearance, all of which are characteristic of Schwartz jample syndrome. Schwartz jample syndrome is a rare disorder that harbors a mutation in the HSPG gene on chromosome 1.