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线粒体脑肌病伴乳酸酸中毒和卒中样发作综合征患者的影像学表现:病例报告

Radiologic Findings in a Patient With Mitochondrial Encephalomyopathy With Lactic Acidosis and Stroke-Like Episodes Syndrome: A Case Report.

作者信息

Watchalotone Sariah, McDonald Halley, Degolier Jessica, Schlangen Alex, Ahmed Imtiaz

机构信息

Radiology, College of Osteopathic Medicine, Midwestern University, Glendale, USA.

Anesthesiology, West Virginia University, Morgantown, USA.

出版信息

Cureus. 2024 Dec 7;16(12):e75268. doi: 10.7759/cureus.75268. eCollection 2024 Dec.

Abstract

Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare, genetically inherited mitochondrial disorder that typically manifests in childhood. The most common radiologic features include basal ganglia calcification, atrophy, and stroke-like cortical lesions. We present the case of an 18-year-old female patient with no known medical history who arrived at the emergency department with altered mental status following a suicide attempt. The patient's initial workup, including a computed tomography (CT) scan of the brain, revealed abnormal findings, prompting further investigation into the patient's medical history. It was later discovered that the patient had a previous diagnosis of MELAS syndrome. This diagnosis helped explain both the radiologic abnormalities and her psychiatric symptoms. This case underscores the importance of recognizing radiologic presentations of rare conditions such as MELAS syndrome, which may contribute to the broader spectrum of clinical manifestations associated with the disease.

摘要

伴有乳酸性酸中毒和卒中样发作的线粒体脑肌病(MELAS)综合征是一种罕见的、基因遗传性线粒体疾病,通常在儿童期发病。最常见的影像学特征包括基底节钙化、萎缩以及卒中样皮质病变。我们报告一例18岁女性患者,既往无已知病史,因自杀未遂后出现精神状态改变而被送至急诊科。患者最初的检查,包括脑部计算机断层扫描(CT),发现了异常结果,促使对患者的病史进行进一步调查。后来发现该患者先前被诊断为MELAS综合征。这一诊断有助于解释影像学异常以及她的精神症状。该病例强调了认识诸如MELAS综合征等罕见疾病的影像学表现的重要性,这可能有助于了解该疾病更广泛的临床表现谱。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3560/11703642/6e0a4d600baa/cureus-0016-00000075268-i01.jpg

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