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Alström syndrome mimicking spasmus nutans: report of a novel ALMS1 variant.
Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus 2024 Februrary 19
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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