Abstract
BackgroundPrimary familial brain calcification (PFBC) is a rare disorder characterized by distinctive bilateral brain calcification and variable clinical presentations. However, cerebrovascular attack was rarely reported in PFBC patients. We here reported a SLC20A2 mutation patient presenting with acute ischemic stroke.Case presentationA 56 years old man was transferred to our hospital because of 6 days of melena and 3 days of somnolence, agitation and mood changes. Computed tomography (CT) scan showed symmetrical calcifications in bilateral basal ganglia, caudate nucleus, thalami, subcortical white matter and cerebellum, which is consistent with PFBC. Brain magnetic resonance imaging (MRI) revealed acute ischemic stroke in bilateral basal ganglia and periventricular regions. Mutational analysis identified a SLC20A2 gene mutation c.344C > T (p.Thr115Met) in exon 3. One of his daughters had also suffered from brain calcification. MR perfusion imaging revealed hypoperfusion in bilateral basal ganglia, prefrontal and temporal lobe. After treatment, he discharged with a favorable functional outcome but cognitive impairment.ConclusionsIschemic stroke can occur in PFBC patients, which may be associated with hypoperfusion and calcification of arteries. And hypoperfusion in frontotemporal lobar may be related with their cognitive impairment.
Highlights
Primary familial brain calcification (PFBC) is a rare disorder characterized by distinctive bilateral brain calcification and variable clinical presentations
Ischemic stroke can occur in PFBC patients, which may be associated with hypoperfusion and calcification of arteries
Hypoperfusion in frontotemporal lobar may be related with their cognitive impairment
Summary
Primary familial brain calcification (PFBC) is a rare disorder characterized by distinctive bilateral brain calcification and variable clinical presentations. Conclusions: Ischemic stroke can occur in PFBC patients, which may be associated with hypoperfusion and calcification of arteries. Patients with PFBC mostly present with movement disorders, psychiatric symptoms or cognitive impairment. Calcium and other mineral deposits have been found in the walls of capillaries, arterioles and the perivascular spaces in patients with PFBC. Ischemic stroke was rarely reported in PFBC patients.
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