case_images: PMC10538541_01
case_images: A schematic representation of Platelet Derived Growth Factor Receptor beta (PDGFRB) protein including a signal peptide (SP), five extracellular Ig-like (IG) domains, a transmembrane (TM) domain, a juxtamembrane domain (JM), an intracellular split tyrosine kinase (TK) domain, and a C-terminal tail (C-tail). Previously reported variants affecting the PDGFRB protein are presented according to their approximate position in the protein amino-acid chain. The patient's p.R919Q variant is shown in red.
case_images: fneur-14-1235909-g001.jpg
case_images: PMC10538541_01_fneur-14-1235909-g001.jpg
case_images: fig1
case_images: We detected a c.2756G>A change in the PDGFRB gene, which results in a glutamine (Gln) substitution of arginine (Arg) at residue 919 (Figure 1).
case_images: A schematic timeline of the patient's symptoms, diagnostic workup, and interventions, presented in years after presentation.
case_images: fneur-14-1235909-g002.jpg
case_images: PMC10538541_01_fneur-14-1235909-g002.jpg
case_images: fig2
case_images: A timeline of the patient's symptoms, diagnostic workup, and interventions is represented in Figure 2.
case_images: (A) Representative axial cuts from the patient's computed tomography (CT) scan 15 months after symptom onset, showing diffuse hyperdense foci favored to represent extensive calcifications throughout the bilateral corona radiata, basal ganglia, cerebellar hemispheres, and midbrain. (B) Representative axial cuts from the patient's magnetic resonance imaging (MRI) 15 months after symptom onset, fluid-attenuated inversion recovery (FLAIR) sequence showing high T2 signal in the bilateral cerebral, brainstem, and cerebellar deep gray nuclei and white matter and susceptibility-weighted angiography (SWAN) sequence showing extensive susceptibility effect.
case_images: fneur-14-1235909-g003.jpg
case_images: PMC10538541_01_fneur-14-1235909-g003.jpg
case_images: fig3
case_images: A repeat CT scan of the head showed diffuse hyperdense foci favored to represent extensive calcifications throughout the bilateral corona radiata, basal ganglia, cerebellar hemispheres, and midbrain (Figure 3A), comparable to the patient's initial neuroimaging 15 months prior. A repeat MRI brain without contrast showed extensive susceptibility effect and high T1 and T2 signal in the bilateral cerebral, brainstem, and cerebellar deep gray nuclei and white matter (Figure 3B).