1.
J AAPOS
; 28(2): 103853, 2024 04.
Article
in English
| MEDLINE
| ID: mdl-38378129
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.