{Reference Type}: Case Reports
{Title}: Alström syndrome mimicking spasmus nutans: report of a novel ALMS1 variant.
{Author}: Rodrigues R;Santos Silva R;Penas S;Moleiro A;Estrela Silva S;Faria O;Magalhães A;
{Journal}: J AAPOS
{Volume}: 28
{Issue}: 2
{Year}: 2024 04 18
{Factor}: 1.325
{DOI}: 10.1016/j.jaapos.2024.103853
{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.