MEGDEL 3-methylglutaconic (MG) aciduria, deafness, encephalopathy, Leigh-like syndrome is an autosomal recessive disorder associated with infantile hypoglycemia, progressive psychomotor developmental delay, cerebellar atrophy with lesions in the basal ganglia, spasticity, dystonia, deafness, and transient liver problems, which typically occur in the first year of life. Other clinical presentations include failure to thrive, epilepsy, and optic nerve atrophy. The serine active site-containing 1 (SERAC1) mutation is localized at the mitochondria-associated membranes, which are responsible for encoding a phosphatidylglycerol remodeler essential for both mitochondrial function and intracellular cholesterol trafficking and is thus responsible for the disease. Diagnosis is confirmed by the elevation of and concentrations of 3-MG acid and 3-methylglutaric acid in the urine or by identification of bi-allelic SERAC1 pathogenic variants on molecular genetic testing. Different pathological variants of SERAC1 have been identified in MEGDEL syndrome to date. Here, we report a case of a child with MEGDEL syndrome due to SERAC1 mutation. The child presented with accidental finding by CT showing hypodensity on bilateral symmetric anterior putamen and caudate abnormal. Neurological examination was unremarkable. This report presents a new neuroimaging finding by CT of MEGDEL syndrome.
Case Rep Neurol 2021;13:429–433

中文翻译：

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基于神经影像学的 MEGDEL 综合征的偶然发现：病例报告

MEGDEL 3-甲基戊二酸 (MG) 酸尿症、耳聋、脑病、Leigh 样综合征是一种常染色体隐性遗传病，与婴儿低血糖症、进行性精神运动发育迟缓、小脑萎缩伴基底节病变、痉挛、肌张力障碍、耳聋和短暂性肝脏有关问题，通常发生在生命的第一年。其他临床表现包括发育不良、癫痫和视神经萎缩。含丝氨酸活性位点 1 (SERAC1) 突变位于线粒体相关膜，负责编码对线粒体功能和细胞内胆固醇运输必不可少的磷脂酰甘油重塑剂，因此是该疾病的原因。通过尿液中 3-MG 酸和 3-甲基戊二酸的升高和浓度或通过分子遗传学检测中双等位基因 SERAC1 致病变异的鉴定来确认诊断。迄今为止，已经在 MEGDEL 综合征中发现了 SERAC1 的不同病理变异。在这里，我们报告了一例因 SERAC1 突变而患有 MEGDEL 综合征的儿童。孩子通过 CT 意外发现双侧对称前壳核密度低，尾状核异常。神经系统检查无异常。本报告介绍了 MEGDEL 综合征的 CT 神经影像学新发现。我们报告了一例因 SERAC1 突变而患有 MEGDEL 综合征的儿童。孩子通过 CT 意外发现双侧对称前壳核密度低，尾状核异常。神经系统检查无异常。本报告介绍了 MEGDEL 综合征的 CT 神经影像学新发现。我们报告了一例因 SERAC1 突变而患有 MEGDEL 综合征的儿童。孩子通过 CT 意外发现双侧对称前壳核密度低，尾状核异常。神经系统检查无异常。本报告介绍了 MEGDEL 综合征的 CT 神经影像学新发现。
案例代表 Neurol 2021；13:429–433