A case report of Leigh syndrome diagnosed by endomyocardial biopsy.
A case report of Leigh syndrome diagnosed by endomyocardial biopsy.
复制标题
DOI：
10.1093/ehjcr/ytaa582
复制
发表时间：
2021-03
期刊：
影响因子：
--
通讯作者：
Takeda A
中科院分区：
文献类型：
--
作者：
Maruo Y;Ueda Y;Murayama K;Takeda A
Leigh综合征是由线粒体功能障碍引起的神经退行性疾病，具有表型和遗传异质性。线粒体损伤通常由骨骼肌活检证实。我们报告一个借由肌内膜活检（EMB）而非骨骼肌活检诊断的Leigh症候群病例。在7个月大时，患者出现运动发育延迟。他在1岁时发生了由感染引发的代谢性酸中毒，血清和脑脊液中乳酸和丙酮酸值升高。脑部磁共振T2加权成像显示中脑和背侧脑桥双侧高信号。骨骼肌活检未显示线粒体疾病的证据。左心室肥大，双侧壳核高信号T2加权成像和乳酸峰在右侧基底节的单体素光谱，和惊厥发作分别出现在12岁，15岁和16岁。当他17岁时，活检心肌病理显示细胞质空泡化和肌原纤维内线粒体明显增生。活检心肌的呼吸链酶活性显示复合物I的活性降低。基因检测显示MT-ND 6基因上存在m.14453 A>G突变。他最终被诊断出患有利氏综合征。口服5-氨基乙酰丙酸可降低癫痫发作频率。EMB导致Leigh综合征的诊断。努力发现并进行受影响器官的活检对诊断线粒体疾病很重要。当骨骼肌活检难以诊断线粒体疾病时，EMB是一种有用的诊断方法。
Leigh syndrome is a neurodegenerative disorder caused by mitochondrial dysfunction with both phenotypic and genetic heterogeneity. Mitochondrial impairments are usually demonstrated by skeletal muscle biopsy. We report a case of Leigh syndrome diagnosed by endomyocardial biopsy (EMB), not by skeletal muscle biopsy. At aged 7 months, the patient had delayed motor development. He developed metabolic acidosis triggered by an infection with elevated lactate and pyruvate values in serum and cerebrospinal fluid when he was 1 year old. T2-weighted imaging on magnetic resonance imaging of the brain revealed bilateral hyperintensity in midbrain and dorsal pons. Biopsied skeletal muscle did not show evidence of mitochondrial disease. Left ventricular hypertrophy, bilateral putamen hyperintensity in T2-weighted imaging and a lactate peak in the right basal ganglia in single voxel spectroscopy, and a convulsive seizure appeared at the age of 12, 15, and 16, respectively. When he was 17 years old, biopsied myocardium showed cytoplasmic vacuolization and a marked proliferation of mitochondria within myofibrils pathologically. Respiratory chain enzyme activity of the biopsied myocardium showed decreased activity of complex I. Genetic testing revealed an m.14453 A>G mutation on the MT-ND6 gene. He was finally diagnosed with Leigh syndrome. Administration of oral 5-aminolevulinic acid reduced the frequency of seizures. EMB led to the diagnosis of Leigh syndrome. Efforts to find and conduct the biopsy of affected organs are important to diagnose mitochondrial disease. EMB is a useful diagnostic method when there is a difficulty in diagnosing mitochondrial disease by skeletal muscle biopsy.
登录
查看更多内容
DOI：
10.1016/j.echo.2008.02.006
发表时间：
2008-08-01
影响因子：
6.5
作者：
Pettersen, Michael D.;Du, Wei;Humes, Richard A.
通讯作者：
Humes, Richard A.
影响因子：
37.8
作者：
Foster, Bethany J.;Mackie, Andrew S.;Colan, Steven D.
通讯作者：
Colan, Steven D.
影响因子：
9.9
作者：
Bernier, FP;Boneh, A;Thorburn, DR
通讯作者：
Thorburn, DR
影响因子：
6
作者：
Ng, Yi Shiau;Turnbull, Doug M.
通讯作者：
Turnbull, Doug M.
影响因子：
39.3
作者：
Bates MG;Bourke JP;Giordano C;d'Amati G;Turnbull DM;Taylor RW
通讯作者：
Taylor RW