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CC BY-NC-ND 4.0 · Indian J Radiol Imaging 2017; 27(03): 290-292
DOI: 10.4103/ijri.IJRI_368_16
Neuroradiology & Head and Neck Imaging

Horizontal gaze palsy with progressive scoliosis – A case report

P Shalini
Department of Neuro Ophthalmology, Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Coimbatore, Tamil Nadu, India
,
Virna M Shah
Department of Neuro Ophthalmology, Aravind Eye Hospital and Postgraduate Institute of Ophthalmology, Coimbatore, Tamil Nadu, India
› Author Affiliations Financial support and sponsorship Nil.
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Abstract

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.

Keywords

HGPPS - horizontal gaze palsy - scoliosis


Publication History

Article published online:
27 July 2021

© 2017. Indian Radiological Association. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).

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