ACTA2 and arterial disorder: The radiologic appearances we observed in association with heterozygous CBL mutation were of an occlusive arteriopathy with extensive basal collaterals, unlike the lack of collateral formation seen for instance in ACTA2-related arteriopathies.17 More atypical and heterogeneous imaging findings could ultimately also be a feature of arteriopathy caused by CBL mutation, however, an issue that will become clearer as more patients are described.