Herein, we expand the phenotype of DNM1L-related disorder describing the case of a girl with a reported mutation in DNM1L [15] and affected by progressive infantile encephalopathy, with cardiomyopathy and fatal paroxysmal vomiting correlated to bulbar transitory abnormal T2 hyperintensities and DWI restriction areas but without epilepsy. Here, DNM1L is linked to cardiomyopathy.