Adult-onset mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS): a diagnostic challenge

被引：0

作者：

Acquaah, Jason ^{[1
]}

Ferdinand, Phillip ^{[1
]}

Roffe, Christine ^{[1
,2
]}

机构：

[1] Univ Hosp North Midlands NHS Trust, Neurosci, Stoke On Trent, England

[2] Keele Univ, Stroke Res, Sch Med, Keele, England

来源：

BMJ CASE REPORTS | 2024年 / 17卷 / 02期

关键词：

Stroke; Neuroimaging; Neurology; ENCEPHALOPATHY; MYOPATHY; MUTATION; PREVALENCE; A3243G;

D O I：

10.1136/bcr-2023-256306

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页数：3

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