Rita Rodrigues MD, R. Santos Silva MD, Susana Penas PhD, Ana Moleiro MD, S. Estrela Silva MD, Olinda Faria MD, Augusto Magalhães MD
{"title":"阿尔斯特姆综合征（Alström syndrome mimicking spasmus nutans）：报告一种新型 ALMS1 变异体。","authors":"Rita Rodrigues MD, R. Santos Silva MD, Susana Penas PhD, Ana Moleiro MD, S. Estrela Silva MD, Olinda Faria MD, Augusto Magalhães MD","doi":"10.1016/j.jaapos.2024.103853","DOIUrl":null,"url":null,"abstract":"<div><p>We report the case of an otherwise healthy 6-year-old girl presenting with poor visual acuity, photophobia, and abnormal eye and head movements who was initially diagnosed with spasmus nutans. A remote history of presumed viral cardiomyopathy and further electroretinography testing raised suspicion for Alström syndrome. She was diagnosed with a novel <em>ALMS1</em> variant.</p></div>","PeriodicalId":50261,"journal":{"name":"Journal of Aapos","volume":null,"pages":null},"PeriodicalIF":1.2000,"publicationDate":"2024-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Alström syndrome mimicking spasmus nutans: report of a novel ALMS1 variant\",\"authors\":\"Rita Rodrigues MD, R. Santos Silva MD, Susana Penas PhD, Ana Moleiro MD, S. Estrela Silva MD, Olinda Faria MD, Augusto Magalhães MD\",\"doi\":\"10.1016/j.jaapos.2024.103853\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>We report the case of an otherwise healthy 6-year-old girl presenting with poor visual acuity, photophobia, and abnormal eye and head movements who was initially diagnosed with spasmus nutans. A remote history of presumed viral cardiomyopathy and further electroretinography testing raised suspicion for Alström syndrome. She was diagnosed with a novel <em>ALMS1</em> variant.</p></div>\",\"PeriodicalId\":50261,\"journal\":{\"name\":\"Journal of Aapos\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.2000,\"publicationDate\":\"2024-04-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Aapos\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1091853124000818\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"OPHTHALMOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Aapos","FirstCategoryId":"3","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1091853124000818","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
Alström syndrome mimicking spasmus nutans: report of a novel ALMS1 variant
We report the case of an otherwise healthy 6-year-old girl presenting with poor visual acuity, photophobia, and abnormal eye and head movements who was initially diagnosed with spasmus nutans. A remote history of presumed viral cardiomyopathy and further electroretinography testing raised suspicion for Alström syndrome. She was diagnosed with a novel ALMS1 variant.
期刊介绍：
Journal of AAPOS presents expert information on children''s eye diseases and on strabismus as it affects all age groups. Major articles by leading experts in the field cover clinical and investigative studies, treatments, case reports, surgical techniques, descriptions of instrumentation, current concept reviews, and new diagnostic techniques. The Journal is the official publication of the American Association for Pediatric Ophthalmology and Strabismus.
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