%0 Case Reports
%T Alström syndrome mimicking spasmus nutans: report of a novel ALMS1 variant.
%A Rodrigues R
%A Santos Silva R
%A Penas S
%A Moleiro A
%A Estrela Silva S
%A Faria O
%A Magalhães A
%J J AAPOS
%V 28
%N 2
%D 2024 04 18
%M 38378129
%F 1.325
%R 10.1016/j.jaapos.2024.103853
%X 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.