期刊
JOURNAL OF STROKE & CEREBROVASCULAR DISEASES
卷 33, 期 1, 页码 -出版社
ELSEVIER
DOI: 10.1016/j.jstrokecerebrovasdis.2023.107490
关键词
Bloom syndrome; Antiphospholipid antibodies; Ischemic stroke; Hypercoagulable state; Case report
This case report describes a patient with Bloom syndrome who developed acute cerebral infarction along with elevated antiphospholipid antibodies, suggesting a possible association between immune and coagulation abnormalities caused by Bloom syndrome and the development of acute cerebral infarction.
Objective: Bloom syndrome is a chromosomal breakage disorder associated with immune deficiency, characterized by short stature, predisposition to early-onset cancer, and immune defects. Currently, there have been no reports of acute cerebral infarction in patients with Bloom syndrome. Here, we report a case of Bloom syndrome complicated by elevated antiphospholipid antibodies and acute cerebral infarction. Materials and Methods: A 23year-old male with a known genetic diagnosis of Bloom syndrome was admitted to the Respiratory Department due to pulmonary aspergillosis. The patient experienced sudden dizziness, and subsequent cranial MRI revealed a newly developed infarction in the right cerebellar hemisphere. Results: Six days later, the patient presented with sudden right visual field loss, and a repeat cranial MRI showed new infarctions in the left occipital and temporal lobes. Positive lupus anticoagulant and prolonged activated partial thromboplastin time suggested elevated antiphospholipid antibodies causing thrombus formation. Unfortunately, anticoagulant treatment was not administered due to recurrent hemoptysis. Conclusion: This study reports the first case of a Bloom syndrome patient with elevated antiphospholipid antibodies and acute cerebral infarction, suggesting that the immune and coagulation abnormalities caused by Bloom syndrome may contribute to the development of acute cerebral infarction.
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