Evaluation of visual evoked potentials in patient with angelmans syndrome - case report

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

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Published inBalkan medical journal Vol. 30; no. 2; pp. 242 - 243
Main Authors Knezevic, Tatjana, Petronic, Ivana, Nikolic, Dejan, Cirovic, Dragana, Krstic, Vera, Ducic, Sinisa, Konstantinovic, Ljubica, Foti, Calogero
Format Journal Article
LanguageEnglish
Published Turkey AVES 01.06.2013
Galenos Publishing House
Subjects
angelman syndrome
Case Report
children
Visual evoked potentials
children
angelman syndrome
visual evoked potentials
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Summary:Angelman syndrome (AS) is a genetic disorder with varying degrees of neurological impairment. It is often associated with ocular involvement. 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. VEPs can be used in patients with AS and visual disturbances to assess the integrity of the visual system.
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ISSN:2146-3123
2146-3131
DOI:10.5152/balkanmedj.2013.8280