Alström syndrome mimicking spasmus nutans: report of a novel ALMS1 variant.
J AAPOS
; 28(2): 103853, 2024 04.
Article
de En
| 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.
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Spasmes infantiles
/
Nystagmus pathologique
/
Syndrome d'Alström
Limites:
Child
/
Female
/
Humans
Langue:
En
Journal:
J AAPOS
Sujet du journal:
OFTALMOLOGIA
/
PEDIATRIA
Année:
2024
Type de document:
Article
Pays de publication:
États-Unis d'Amérique