Figure 1.

Brain magnetic resonance imaging anomalies in three patients carrying biallelic pathogenic IARS2 variants and bone marrow aspiration from patients 1 and 2. (A) Patient 1 (3 months): sagittal T1, axial T2 weighted images and magnetic resonance spectroscopy (MRS) showing no anomalies other than a lactate peak (arrow). (B) Patient 2 (2 months): sagittal T1, axial T2 weighted images and MRS showing no lactate peak but mild and diffuse white matter hyperintensities (arrows). (C) Patient 3 (7 years): coronal T2, axial T2 weighted images and MRS showing bilateral cavitations in putamen characteristic of Leigh disease (arrows), frank and diffuse cerebral atrophy, white matter loss and a lactate peak. (D, E) Bone marrow aspiration from patient 1 (D) and 2 (E) showing ring sideroblasts on iron stain.