Expanding the Spectrum of Early Neuroradiologic Findings in β Propeller Protein-Associated Neurodegeneration

BPAN early radiologic signature. At 12 months of life, axial and coronal T2 (A and B) images show bilateral symmetric dentate nucleus hyperintensity and swelling (white arrows). Axial T2 (C) shows bilateral GP swelling and mild hyperintensity (white arrow). Bilateral SN swelling and T2 hyperintensity are demonstrated on D (white arrow). At 17 months, midsagittal T1 (E) shows diffuse callosal thinning (white arrow), a small pons (dotted arrow), and superior vermian volume loss (double arrow). Axial T2 (F) shows diffuse myelin reduction (white arrow) and prominent lateral ventricles (double arrow). Delayed myelination was infrequently seen in our cohort (1/15 patients). At 10 years of age, T2 axial image (G) in an older child shows GP iron deposition, which is confirmed on SWI (H). H, Increased iron deposition in the SN. The typically reported T1 halo sign was not seen in our pediatric cohort.