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Case Reports
. 2022 Oct;27(4):270-274.
doi: 10.17712/nsj.2022.4.20220047.

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

Yan Li  1 , Wei Fang  1 , Wenying Long  1 , Guohua Zhao  1
Affiliations
Case Reports

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

Yan Li et al. Neurosciences (Riyadh). 2022 Oct.

Abstract

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.

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Figures

Figure 1
Figure 1
- Genetic analysis results for the patient and her family. A) The pedigree of the patient’s family with compound heterozygous MYORG mutations. B &D) Normal control sequences. C) The c.687G>T variant. E) The c.348_349insCTGGCCTTCCGC variant. Family members I:1 and II:1 were carriers of c.687G>T, and family members I:2 and II:1 were carriers of c.348_349insCTGGCCTTCCGC.
Figure 2
Figure 2
- Imaging findings from October 2018 and October 2019. Axial non-contrast CT (A & B) and MRI (C) scans of the brain taken in October 2018. Extensive symmetric calcifications can be observed in the bilateral basal ganglia, thalamus, dentate nuclei, and subcortical white matter. MRA (D) showed that there was no stenotic segment or occlusion in the intracranial arteries. DWI (E) of the brain taken in October 2019 showing hyperintense spots in the right internal capsule. DTI (F) showing the region of interest.
Figure 3
Figure 3
- The timeline table of the case in this study.
See this image and copyright information in PMC

References

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