Literature DB >> 26917084

Bilateral maculopathy in a patient with ataxia telangiectasia.

Lauren V Gioia1, Dean Bonsall2, Kathryn Moffett3, Monique Leys2.   

Abstract

We report a case of toxoplasmosis with bilateral maculopathy in a 7-year-old boy diagnosed with ataxia telangiectasia (AT) at age 6. AT manifests as ataxia, apraxia, telangiectasia, and dysarthria. Common ophthalmologic findings in AT include fine conjunctival telangiectasia. Patients also suffer from recurrent sinopulmonary infections; however, serious opportunistic infection is rarely diagnosed. At 8 years of age he developed disseminated Toxoplasma gondii (toxoplasmosis) infection and meningoencephalitis. This ophthalmologic finding and the subsequent toxoplasmosis meningoencephalitis have not been previously reported in AT.
Copyright © 2016 American Association for Pediatric Ophthalmology and Strabismus. Published by Elsevier Inc. All rights reserved.

Entities:  

Mesh:

Substances:

Year:  2016        PMID: 26917084     DOI: 10.1016/j.jaapos.2015.10.005

Source DB:  PubMed          Journal:  J AAPOS        ISSN: 1091-8531            Impact factor:   1.220


  2 in total

1.  Case Report: Ocular toxoplasmosis in a WHIM syndrome immunodeficiency patient.

Authors:  David H McDermott; Lauren E Heusinkveld; Wadih M Zein; H Nida Sen; Martha M Marquesen; Mark Parta; Sergio D Rosenzweig; Gary A Fahle; Michael D Keller; Henry E Wiley; Philip M Murphy
Journal:  F1000Res       Date:  2019-01-02

2.  The natural history of ataxia-telangiectasia (A-T): A systematic review.

Authors:  Emily Petley; Alexander Yule; Shaun Alexander; Shalini Ojha; William P Whitehouse
Journal:  PLoS One       Date:  2022-03-15       Impact factor: 3.752

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.