Progressive brain calcifications and signs in a family with the L9R mutation in the PDGFB gene

Density progression, as measured by change in Hounsfield units (HU), of calcifications in cerebellum, thalamus, basal ganglia, and frontal white matter in patient III:1. To the left axial (A.a and B.a) and sagittal sections (C.a) from the first CT scan done in 2009 and to the right sections performed in 2014 (A.b, B.b, and C.b). The sagittal sections display the right hemispheres of the brain and cerebellum (C.a and C.b). According to the TCS method, using the axial image could score the white matter changes as “moderate” but seem to be “severe” in the sagittal image. In the white matter (B.a and B.b), the HU increased by 142% or 124 HU, but the TCS remained unchanged at 3 points. In the lentiform nucleus (B.a and B.b), the HU increased by 29% or 70 HU, but the TCS remained also unchanged at 5 points. In the thalamus (B.a and B.b), the HU increased by 22% or 11 HU, but the TCS increased from 2 to 3 points. In the cerebellum (A.a and A.b), the HU increased by 44% or 17 HU and also increased in TCS from 2 to 3 points (for more details see table e-8).