PMC9932805_01
(A) Brain magnetic resonance imaging (MRI) and computed tomography (CT) for the proband (II.2) reveal bilateral calcification in the basal ganglia, thalamus, cerebellum, and pons. CT of the proband's brother (II.1) reveals bilateral calcification in the basal ganglia, thalamus, and cerebellum. The calcification sites showed a high degree of similarity between the patients. (B) The genetic pedigree for this case. (C)
MYORG gene sequencing of the family members of this case. FM, family; AAO, age at onset; WT, wild type.
fneur-14-1110227-g0001.jpg
PMC9932805_01_fneur-14-1110227-g0001.jpg
F1
Computed tomography (CT) and magnetic resonance imaging revealed symmetrical patchy calcifications in the bilateral cerebellopontine nuclei, thalamus, basal ganglia, and radiocoronal areas (Figure 1). The calcification sites and morphology of both siblings exhibited a high degree of similarity (Figure 1). We then performed whole-exome sequencing on the patient, identifying that the proband had potential compound heterozygous variants in the MYORG gene, including two heterozygous variants, namely c.348_c.349insCTGGCCTTCCGC (p.116_117insLAFR) and c.580G>T (p.Q194*) that were confirmed by Sanger sequencing (Figure 1).