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从糖尿病到神经病变:通向 Leigh 综合征的诊断历程。

From Diabetes to Neuropathy: A Diagnostic Journey to Leigh Syndrome.

作者信息

Behzadi Arya, Poormehr Pooya, Saneifard Hedyeh, Shakiba Marjan

机构信息

Department of pediatric endocrinology and metabolism, Mofid children's hospital, Shahid Beheshti university of medical sciences, Tehran, Iran.

出版信息

Iran J Child Neurol. 2025;19(1):113-119. doi: 10.22037/ijcn.v19i1.46085. Epub 2025 Jan 7.

Abstract

Diabetes is one of the most common chronic disorders in the world, characterized by chronic hyperglycemia. Among the rare causes of diabetes, Leigh syndrome is a rare genetic mitochondrial disorder with unusual manifestations like neurological deficits in addition to typical diabetes symptoms. This report enlightens others about the unusual presentation of diabetes in a pediatric population. The studied case is a 6-year-old girl with hypothyroidism and diabetes. Post-SARS-CoV-2 infection, she developed progressive lower limb weakness. Magnetic resonance imaging (MRI) and electromyography-nerve conduction velocity (EMG-NCV) revealed brain lesions and polyneuropathy. Genetic testing using whole exome and Sanger sequencing confirmed mitochondrial gene mutations in the MT-NDI location, diagnosing her with Leigh syndrome. Pediatric diabetic patients typically present with Type 1 diabetes mellitus (T1DM) or Type 2 diabetes mellitus (T2DM), but other causes must be considered. Leigh syndrome can manifest with neurological symptoms, requiring clinicians to recognize its diverse presentations for proper management. This case highlights the importance of considering rare etiologies for diabetes to improve the prognosis and quality of life.

摘要

糖尿病是世界上最常见的慢性疾病之一,其特征为慢性高血糖。在糖尿病的罕见病因中, Leigh综合征是一种罕见的遗传性线粒体疾病,除典型的糖尿病症状外,还伴有如神经功能缺损等异常表现。本报告旨在让其他人了解儿科人群中糖尿病的异常表现。所研究的病例是一名患有甲状腺功能减退症和糖尿病的6岁女孩。感染新型冠状病毒后,她出现了进行性下肢无力。磁共振成像(MRI)和肌电图 - 神经传导速度(EMG - NCV)检查显示有脑部病变和多发性神经病。使用全外显子组和桑格测序进行的基因检测证实了MT - ND1位点的线粒体基因突变,诊断她患有Leigh综合征。儿科糖尿病患者通常表现为1型糖尿病(T1DM)或2型糖尿病(T2DM),但必须考虑其他病因。Leigh综合征可表现出神经症状,这要求临床医生认识到其多样的表现形式以便进行恰当管理。该病例凸显了考虑糖尿病罕见病因对于改善预后和生活质量的重要性。

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Mitochondrial complex I subunit mutations affect disease progression.线粒体复合物I亚基突变影响疾病进展。
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The challenges of diagnosing diabetes in childhood.
Diagnosis (Berl). 2020 Jul 20. doi: 10.1515/dx-2020-0036.
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Mitochondrial Diabetes: More Than Just Hyperglycemia.线粒体糖尿病:不止于高血糖
Clin Diabetes. 2019 Jul;37(3):298-301. doi: 10.2337/cd18-0090.
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Diagnosis and classification of diabetes mellitus.糖尿病的诊断与分类
Diabetes Care. 2013 Jan;36 Suppl 1(Suppl 1):S67-74. doi: 10.2337/dc13-S067.

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