Recognition of the PBS neuroimaging triad - cerebellar dysplasia with multiple cortical-subcortical cysts, enlarged rhomboid-shaped fourth ventricle, and thin, splayed superior cerebellar peduncles - should prompt immediate consideration of Poretti-Boltshauser syndrome and targeted LAMA1 gene sequencing. Here, LAMA1 is linked to Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome.