RESUMEN

A 2.6-year-old boy presented with prominent corneal arcus. This clinical sign is rarely seen at such a young age and led to the diagnosis of familial hypercholesterolemia (FH). Genetic analysis detected biallelic pathogenic sequence variants c.1069G>A and c.2034C>A in the LDLR gene. There is significant cardiovascular morbidity and mortality associated with FH, hence early diagnosis and treatment is imperative.

Asunto(s)

Arco Senil/etiología , Córnea/patología , Hiperlipoproteinemia Tipo II/complicaciones , Adulto , Arco Senil/diagnóstico , Arco Senil/genética , Preescolar , LDL-Colesterol/sangre , Femenino , Estudios de Seguimiento , Pruebas Genéticas , Homocigoto , Humanos , Hiperlipoproteinemia Tipo II/sangre , Hiperlipoproteinemia Tipo II/genética , Masculino , Fenotipo