阿尔斯特姆综合征（Alström syndrome mimicking spasmus nutans）：报告一种新型 ALMS1 变异体。

IF 1.2 4区医学 Q3 OPHTHALMOLOGY

Journal of Aapos Pub Date : 2024-04-01 DOI:10.1016/j.jaapos.2024.103853

Rita Rodrigues MD, R. Santos Silva MD, Susana Penas PhD, Ana Moleiro MD, S. Estrela Silva MD, Olinda Faria MD, Augusto Magalhães MD

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引用次数: 0

摘要

我们报告了这样一个病例：一名原本健康的 6 岁女孩出现视力差、畏光、眼球和头部运动异常等症状，最初被诊断为神经痉挛。推测的病毒性心肌病远期病史和进一步的视网膜电图检测使我们怀疑她患有阿尔斯特罗姆综合征。她被诊断为新型 ALMS1 变异体。

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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.

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来源期刊

Journal of Aapos 医学-小儿科

CiteScore

2.40

自引率

12.50%

发文量

159

审稿时长

55 days

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.