Abstract：
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.
摘要：
我们报告了一个原本健康的6岁女孩的情况，视力不佳，畏光,和异常的眼睛和头部运动，最初被诊断为痉挛。假定的病毒性心肌病的遥远病史和进一步的视网膜电图检查引起了对Alström综合征的怀疑。她被诊断出患有新的ALMS1变异。
