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Optimized Management of Endovascular Treatment for Acute Ischemic Stroke
Published on: January 18, 2018
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SCL20A2 mutation presenting with acute ischemic stroke: a case report.
Xiaoyu Zhang1, Gaoting Ma1, Zhangning Zhao1
1Department of Neurology, Qianfoshan Hospital, Shandong University, Jinan, 250014, China.
BMC Neurology
|January 21, 2018
Summary
Primary familial brain calcification (PFBC) is rare, but this study reports an SLC20A2 mutation patient experiencing acute ischemic stroke. This highlights a potential link between PFBC, hypoperfusion, and stroke in affected individuals.
Area of Science:
- Neurology
- Genetics
- Radiology
Background:
- Primary familial brain calcification (PFBC) is a rare genetic disorder.
- Characterized by bilateral brain calcification with variable clinical presentations.
- Cerebrovascular events are rarely reported in PFBC patients.
Observation:
- A 56-year-old male with PFBC presented with acute ischemic stroke.
- Imaging revealed bilateral basal ganglia and periventricular ischemic lesions.
- Mutational analysis identified an SLC20A2 gene mutation (c.344C>T).
Findings:
- The patient exhibited hypoperfusion in bilateral basal ganglia, prefrontal, and temporal lobes.
- Ischemic stroke is a potential complication in PFBC patients.
- Cognitive impairment may be linked to frontotemporal hypoperfusion.
Implications:
- This case suggests ischemic stroke can occur in PFBC.
- Hypoperfusion and arterial calcification may contribute to stroke risk in PFBC.
- Findings emphasize the importance of considering cerebrovascular complications in PFBC management.
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