Evaluation of Visual Evoked Potentials in Patient with Angelmans Syndrome - Case Report

Angelman Sendromu Olan Bir Hastada Uyarılmış Görsel Potansiyellerin Değerlendirilmesi – Olgu Sunumu

Tatjana Knezevic ¹, Dejan Nikolic ¹, Ivana Petronic ², Dragana Cirovic ², Vera Krstic ², Sinisa Ducic ², Ljubica Konstantinovic ², Calogero Foti ³

¹Physical Medicine and Rehabilitation, University Childrens Hospital, Belgrade, Serbia
²University of Belgrade, Faculty of Medicine, Belgrade, Serbia
³Physical and Rehabilitation Medicine, Tor Vergata University, Rome, Italy

DOI : 10.5152/balkanmedj.2013.8280

Pages : 242-243

Abstract

Background: Angelman syndrome (AS) is a genetic disorder with varying degrees of neurological impairment. It is often associated with ocular involvement.

Case Report: We present a child diagnosed with AS who had a deletion on the short arm of chromosome 15. The child seemed to be happy, with developmental delay, speech problem, and altering strabismus. To assess the potential presence and degree of damage in the visual pathway, we recorded monocular flash visual evoked potentials (VEPs). Our results revealed the presence of severe central afferent dysfunction in both optical pathways.

Conclusion: VEPs can be used in patients with AS and visual disturbances to assess the integrity of the visual system.