In our case, diagnosis was established through the presence of three major criteria (facial dysmorphism, HCM and PS, grade 1 malnutrition) and the genetic mutation in RAF1 gene of 770C> T. This type of mutation is identified in NS with multiple lentigines as well (formerly named LEOPARD syndrome), with increased prevalence for HCM and frequent right ventricle and right ventricular outflow tract localization, with a worse prognosis compared to other forms (11). This evidence concerns the gene RAF1 and nutritional deficiency disease.