中国迟发性 Leigh 综合征且无发育延迟：一例报告
Late-onset Leigh syndrome without delayed development in China: A case report.
作者信息
Liang Jian-Min, Xin Cui-Juan, Wang Guang-Liang, Wu Xue-Mei
机构信息
Department of Pediatric Neurology, 1Hospital of Jilin University, Changchun 130021, Jilin Province, China.
Department of Cardiology, Dalinghe Hospital of Far Eastern Horizon, Dalinghe 121200, Liaoning Province, China.
出版信息
World J Clin Cases. 2021 Aug 26;9(24):7133-7138. doi: 10.12998/wjcc.v9.i24.7133.
BACKGROUND
Leigh syndrome (LS) is one of the most common mitochondrial diseases in infants and children. LS often manifests as early-onset with delayed phenotypic development. However, late-onset LS with normal development and white matter lesions in the brain is rarely reported, thereby highlighting the phenotypic variability of LS expression.
CASE SUMMARY
We report a 12-year-old boy who presented with an unusual late-onset and fulminant form of LS that is maternally inherited without developmental delay. The patient was admitted to the hospital with symptoms of ptosis and somnolence, and died within 2 mo. Analysis of peripheral blood leukocytes showed a homoplasmic m.9176T>C mutation in the patient. Magnetic resonance imaging also revealed lesions in bilateral white matter as well as symmetrical lesions in the basal ganglia and brain stem. The patient was diagnosed with LS. The patient was treated with vitamin C, vitamin D, and adenosine-triphosphate. The patient died within 2 mo of hospital admission.
CONCLUSION
LS can present in both infants and older children with different phenotypes.
背景
Leigh综合征（LS）是婴幼儿期最常见的线粒体疾病之一。LS通常表现为发病早且表型发育延迟。然而，发育正常且脑白质病变的迟发性LS鲜有报道，这凸显了LS表达的表型变异性。
病例摘要
我们报告了一名12岁男孩，他表现出一种不寻常的迟发性暴发性LS，为母系遗传且无发育迟缓。该患者因上睑下垂和嗜睡症状入院，2个月内死亡。外周血白细胞分析显示患者存在纯合的m.9176T>C突变。磁共振成像还显示双侧白质病变以及基底神经节和脑干的对称性病变。该患者被诊断为LS。患者接受了维生素C、维生素D和三磷酸腺苷治疗。患者入院后2个月内死亡。
结论
LS可在婴儿和大龄儿童中表现出不同的表型。
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