线粒体脑肌病伴高乳酸血症和卒中样发作误诊为脑梗死

A Case Misdiagnosed as Cerebral Infarct:Mitochondrial Myopathy,Encephalopathy,Lactic Acidosis and Stroke-Like Episodes

目的探讨线粒体脑肌病伴高乳酸血症和卒中样发作的诊断要点、误诊原因及防范措施。方法对我院近期收治的误诊为脑梗死的线粒体脑肌病伴高乳酸血症和卒中样发作1例的临床资料进行回顾性分析。结果患者因双眼突发视力减退1 d入院,经查体及头颅MRI等相关检查考虑脑梗死,予相应治疗,视力稍好转。后患者行头颅数字减影血管造影及磁共振波谱检查排除脑梗死,最终经基因检查确诊线粒体脑肌病(MELAS综合征)。予改善代谢及脑供血等治疗3个月,患者病情明显好转,头颅MRI检查示病灶消失。结论临床表现与急性脑梗死相似、头颅MRI检查提示脑梗死及接诊医生知识面狭窄是导致本例误诊的主要原因。加强学习、拓宽知识面、了解并掌握线粒体脑肌病相关知识,可防止或减少其误诊。

Objective To explore the diagnostic criteria, misdiagnosis causes and preventive measures of mitochon-drial myopathy, encephalopathy, lactic acidosis and stroke-like episodes （ MELAS） . Methods Clinical data of the MELAS patient misdiagnosed as cerebral infarct was retrospectively analyzed. Results The patient with double eyes vision loss for a day was hospitalized, and diagnosed as cerebral infarction after the body and head MRI examinations, vision of double eyes were mildly better after treatment. By DSA, MRS examinations and genetic testing, the patient was eventually confirmed as MELAS syndrome in stead of cerebral infarction. After 3-month treatment such as improving the metabolism and blood supply of the brain, the patient got better obviously, and MRI showed that the focus of head disappeared. Conclusion Clinical mani-festations being similar to acute cerebral infarction, head MRI showing cerebral infarction and knowledge of doctors being nar-row were the main causes of misdiagnosis. Strengthening learning to understand and mastering relevant knowledge of mitochon-dria encephalo-myopathy can prevent or reduce the misdiagnosis.