PMC8632216_01
(A) Magnetic resonance angiography (MRA) revealed bilateral internal carotid artery stenosis. (B) MRI FLAIR showed no typical ischemic and hemorrhagic lesions in the brain. (C) MRI DWI showed no ischemic lesions. (D) SPECT showed no hypoperfusion or laterality of the blood flow. (E) Magnetic resonance angiography (MRA) revealed bilateral internal carotid artery stenosis and blood flow signal of PCA decreased. (F) MRI FLAIR showed bilateral ischemic lesions in the brain. (G) MRI DWI showed new ischemic lesions in the right deep white matter. (white arrows) (H) SPECT showed no hypoperfusion or laterality in the blood flow.
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Magnetic resonance angiography (MRA) revealed bilateral supraclinoid stenosis of the internal carotid artery and abnormal moyamoya-like vessels around the basal ganglion ( Figure 1A ) but MRI FLAIR ( Figure 1B ) and DWI ( Figure 1C ) showed no specific ischemic or hemorrhagic lesions in the brain. SPECT showed no hypoperfusion or laterality ( Figure 1D ); using genomic DNA samples from the patients, we evaluated the polymorphism in c.14576G>A in the RNF213, a susceptibility gene for moyamoya disease, and the results showed a heterozygous variant of the RNF213. After 7 years, MRA revealed bilateral supraclinoid stenosis of the internal carotid artery as observed previously; however, right PCA blood flow decreased. ( Figure 1E ) MRI FLAIR showed an increase in ischemic lesions in the bilateral hemiparesis. ( Figure 1F ) MRI DWI showed new ischemic lesions in the right hemiparesis. ( Figure 1G ) SPECT showed progressive hypoperfusion in the right hemiparesis ( Figure 1H ).
(A) No postoperative recurrence of the left adrenal lesion was observed, and the right adrenal lesion was unchanged and showed 123I-MIBG accumulation. (B) 123I-MIBG accumulation showed no change compared to that recorded 7 years ago.
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All other blood cell counts and serum biochemistry parameters were normal. 123I-MIBG accumulation showed no changing compared to 7 years ago. ( Figure 2B ) We planned STA-MCA bypass; however, it is pending because of the Corona virus disease 19 pandemic.
Pedigree chart of the patient's family members (arrow indicates the index patient).
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The pedigree chart is shown in  Figure 3 .