Neurology, Institute of Neurological Sciences, Glasgow, UK
Neurology, Institute of Neurological Sciences, Glasgow, UK.
Pract Neurol. 2024 Jan 23;24(1):45-50. doi: 10.1136/pn-2023-003862.
A previously healthy 27-year-old man was admitted to the acute neurology ward with events involving his face, throat and upper limb, which video telemetry later confirmed were refractory focal seizures. He also had progressive pyramidal features, dysarthria and ataxia. MR scans of the brain identified progressive bilateral basal ganglia abnormalities, consistent with Leigh syndrome. However, extensive laboratory and genetic panels did not give a unifying diagnosis. A skeletal muscle biopsy showed no histopathological abnormalities on routine stains. Sequencing of the entire mitochondrial genome in skeletal muscle identified a well-characterised pathogenic variant (m.10191T>C in ; NC_012920.1) at 85% heteroplasmy in skeletal muscle. We discuss the clinical and molecular diagnosis of an adult presenting with Leigh syndrome, which is more commonly a paediatric presentation of mitochondrial disease, and how early recognition of a mitochondrial cause is important to support patient care.
一位既往健康的 27 岁男性因面部、喉咙和上肢事件被收入急性神经科病房，视频遥测后来证实这些事件是难治性局灶性癫痫发作。他还出现进行性锥体束特征、构音障碍和共济失调。大脑的磁共振扫描发现进行性双侧基底节异常，符合 Leigh 综合征。然而，广泛的实验室和基因面板检查没有给出一个统一的诊断。骨骼肌活检显示常规染色无组织病理学异常。骨骼肌中线粒体全基因组测序发现 85%异质性的特征性致病性变异（m.10191T>C ， ; NC_012920.1）。我们讨论了以 Leigh 综合征表现的成年患者的临床和分子诊断， Leigh 综合征更常见于儿科的线粒体疾病表现，以及早期识别线粒体病因对支持患者治疗的重要性。
