Shwartz Jampel Syndrome: Rarest of the Rarest Case/A Rare Cause of BlepharospasmVini Badlani*, Mohan Rajan, Senthil Nathan, Bina John and Shreyas Shah
Department of Ophthalmology, Aravind Eye Hospital, Coimbatore, India
- *Corresponding Author:
- Vini Badlani
Department of Ophthalmology
Aravind Eye Hospital
Kandivli (West) Mumbai, Maharashtra, 400067, India
E-mail: [email protected]
Received Date: Apr 25, 2017; Accepted Date: May 08, 2017; Published Date: May 10, 2017
Citation: Badlani V, Rajan M, Nathan S, John B, Shah S (2017) Shwartz Jampel Syndrome: Rarest of the Rarest Case/A Rare Cause of Blepharospasm. Pediatr Ther 7: 318. doi:10.4172/2161-0665.1000318
Copyright: © 2017 Badlani V, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution and reproduction in any medium, provided the original author and source are credited.
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.