Ischemic stroke in a patient with Fahr’s disease carrying biallelic mutations in the MYORG gene

Fahr’s disease (FD) is a neurodegenerative disorder characterized by symmetric calcifications in the bilateral basal ganglia and dentate nuclei. Mutations in six genes are known to cause FD. In the present case, a 44-year-old woman was admitted because of bradykinesia that had started developing 3 years ago. Brain CT and MRI revealed severe calcification in the bilateral basal ganglia, thalamus, dentate nuclei, and subcortical white matter. Whole-exome sequencing revealed two previously described compound heterozygous mutations within the MYORG gene. About one year later, the patient developed sudden-onset left-sided hemiparesis. The MRI revealed a small infarction in the right internal capsule. Therefore, the present case findings expand the clinical spectrum of FD. Importantly, the association between ischemic stroke and FD needs to be further studied.