Fig. 3

Clinical imaging of a monoallelic TYROBP deletion carrier and an NHD patient. A-B Radiographs of wrists and ankles of the monoallelic TYROBP deletion carrier show small cystic-appearing translucencies in the lunate bones of the wrists and the left calcaneus and distal tibia of the ankle, as delineated by arrowheads (C) Post-traumatic and postoperative radiographs of the NHD patient’s right wrist over time span of 5 years. The bone structure is patchy already in the earlier radiograph (on the left), with cystic-appearing translucencies notably in the lunate and capitate. Five years later the primary findings are even more pronounced and all carpal bones as well as the distal radius and ulna present as abnormal (within the ellipse). D Radiograph of the NHD patient’s ankles shows numerous abnormal translucencies in the distal heads of the tibia and fibula, talar, calcaneal, and cuboid bones. E Magnetic resonance images (MRI) of the monoallelic TYROBP deletion carrier. No signal or structural pathologies are observable, and there is no evidence of marked atrophy on any of the contrast sets (FLAIR, T1- or T2-weighted, or susceptibility weighted images (SWI)). F Computed tomography (CT) and MRI images of the brain of the NHD patient show bilateral calcifications of the basal ganglia and frontal white matter as hyperdensities in the CT scan, denoted by purple arrowheads. Some punctate signal voids can be observed in the corresponding regions on MRI by SWI both at 3.0 T and at 1.5 T field strengths (arrows). FLAIR, T2- or T1-weighted images show no obvious signal pathology. Marked cortical and temporomesial atrophy is however present and shows rapid progression over time