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线粒体脑肌病、乳酸酸中毒和卒中样发作综合征:来自尼泊尔的一例病例报告。

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome: a case report from Nepal.

作者信息

Subedi Ram C, Paudel Raju, Paudel Sharma, Thapa Lekhjung, Phuyal Subash, Kharbuja Naresh, Adhikari Ayush

机构信息

Department of Neurology, Grande International Hospital.

Department of Neurology, National Institute of Neurological and Allied Sciences.

出版信息

Ann Med Surg (Lond). 2023 May 3;85(6):3026-3030. doi: 10.1097/MS9.0000000000000712. eCollection 2023 Jun.

Abstract

UNLABELLED

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like syndrome (MELAS) is a rare neurodegenerative inherited disorder that is characterized by stroke-like episodes, seizures, endocrine, and multiple system involvement. It is important to consider it as a differential diagnosis in a young patient with stroke-like episodes as it is progressive and has multiple complications.

CASE PRESENTATION

A 28-year-old male presented with slurring of speech and drowsiness for 7 h. He was a diagnosed case of type 2 diabetes mellitus, Wolf-Parkinson-White syndrome, and bilateral hearing loss.

CLINICAL FINDINGS AND INVESTIGATIONS

The patient had expressive aphasia with impaired fluency, repetition, and naming. After being discharged, he represented with loss of consciousness and involuntary movements of the whole body. MRI and MRS showed extension of hyperintense lesions to parieto-occipital regions from temporal regions not limited by vascular territories. MELAS was considered, which was confirmed by molecular genetic analysis. Coenzyme Q10 was used for MELAS. Insulin, Linagliptin, and levetiracetam were used for diabetes and seizures. Regular follow-up was advised to the patient.MELAS is an important syndrome to consider in any young patient presenting with unexplained stroke disorders. A high index of suspicion is needed in an appropriate clinical setting to avoid misdiagnosis.

摘要

未标注

线粒体脑肌病伴乳酸酸中毒和卒中样综合征(MELAS)是一种罕见的神经退行性遗传性疾病,其特征为卒中样发作、癫痫、内分泌及多系统受累。对于出现卒中样发作的年轻患者,将其作为鉴别诊断很重要,因为它呈进行性且有多种并发症。

病例介绍

一名28岁男性因言语含糊和嗜睡7小时就诊。他被诊断为2型糖尿病、预激综合征和双侧听力丧失。

临床发现与检查

患者存在表达性失语,流利性、复述和命名受损。出院后,他再次出现意识丧失和全身不自主运动。MRI和磁共振波谱显示高强度病变从颞叶扩展至顶枕叶区域,不受血管分布区域限制。考虑为MELAS,经分子遗传学分析得以证实。给予辅酶Q10治疗MELAS。使用胰岛素、利格列汀和左乙拉西坦治疗糖尿病和癫痫。建议患者定期随访。MELAS是任何出现不明原因卒中疾病的年轻患者都需考虑的重要综合征。在适当的临床环境中需要高度怀疑,以避免误诊。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/085c/10289576/5ee3ba166c42/ms9-85-3026-g001.jpg

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