Four‐month‐old with severe PIK3CA‐related overgrowth spectrum disorder successfully treated with alpelisb

• DOI: 10.1111/pde.15582
• Publication Date: 2024-03-06T05:06:33Z
• Authors: María‐Laura Cossio; Josefina Rodríguez; Juan Carlos Flores; Florencia De Barb...; Álvaro Flores; José Marín; Carla Florin; Francisco Cuevas; Monserrat Gutiérrez
• Keywords: vascular anomalies; pharmacotherapy; 03 medical and health sciences; 0302 clinical medicine; 03 Salud y bienestar; 610; 03 Good Health and Well-being; vascular malformations

AbstractPIK3CA‐related overgrowth spectrum (PROS) encompasses different clinical entities caused by somatic activating mutations in PIK3CA. Among PROS, CLOVES syndrome represents a severe phenotype with poor survival rate. We present the case of a 4‐month‐old girl with CLOVES syndrome successfully treated with alpelisib, a PIKC3A inhibitor.