Open AccessHorizontal gaze palsy with progressive scoliosis – A case report
Author(s) -
P Shalini,
Virna M. Shah
Publication year - 2017
Publication title -
indian journal of radiology and imaging - new series/indian journal of radiology and imaging/indian journal of radiology and imaging
Language(s) - English
Resource type - Journals
eISSN - 0971-3026
pISSN - 0970-2016
DOI - 10.4103/ijri.ijri_368_16
Subject(s) - medicine , gaze , scoliosis , palsy , physical medicine and rehabilitation , surgery , computer vision , pathology , computer science , alternative medicine
Horizontal gaze palsy with progressive scoliosis (HGPPS) is a rare congenital disorder characterized by absence of conjugate horizontal eye movements and accompanied by progressive scoliosis developing in childhood and adolescence. It occurs due to mutation in ROBO 3 gene/chromosome 11q23-q25. We report a case of a 60-year-old lady who presented with complaints of defective vision in both eyes. On examination, she had scoliosis with restricted abduction and adduction in both eyes with intact elevation and depression. Magnetic resonance imaging of the brain and orbit showed brainstem hypoplasia with absence of facial colliculi, presence of a deep midline pontine cleft (split pons sign), and a butterfly configuration of the medulla, which are the radiological findings seen in this disorder.