关键词: Neuroimaging Neurology Stroke

Mesh : Adult Humans Male Acidosis, Lactic / diagnosis Hearing Loss, Bilateral Lactic Acid MELAS Syndrome / complications diagnosis genetics Stroke / diagnosis etiology

来  源:   DOI:10.1136/bcr-2023-256306   PDF(Pubmed)

Abstract:
Rare causes of stroke-like presentations can be difficult to diagnose. We report a case of a man in his 40s who first presented with stroke symptoms, but whose clinical course was not typical for a stroke. A detailed investigation of the patient\'s medical history revealed bilateral sensorineural hearing loss which prompted a wider diagnostic assessment.Furthermore, lack of vascular risk factors and a normal angiogram strengthened our suspicion of an unusual underlying condition. Raised lactic acid levels and genetic analysis confirmed a diagnosis of mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes syndrome.
摘要:
中风样表现的罕见原因可能难以诊断。我们报道了一个40多岁的男子首次出现中风症状的病例,但其临床过程并不典型的中风。对患者病史的详细调查显示,双侧感音神经性听力损失促使更广泛的诊断评估。此外,缺乏血管危险因素和正常的血管造影增强了我们对异常基础疾病的怀疑.升高的乳酸水平和遗传分析证实了线粒体脑肌病的诊断,乳酸性酸中毒和中风样发作综合征。
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