It is worth noting that the severity of the imaging findings, particularly the extensive atrophy, seems slightly more pronounced in patients with AIRIM compared with those described for AFG2A. Certain pathogenic variants, such as those in UBTF, can result in abnormal ribosomal RNA (rRNA) expression, leading to severe neuro-regression and a similar neuroimaging phenotype characterized by prominent supratentorial brain atrophy with thinning corpus callosum, abnormal myelination, with relative sparing of the cerebellum and brainstem54. This evidence concerns the gene UBTF and Brain atrophy.