Alshammari Salma A, Alghamdi Fouad A, Alhazmi Rami, Aldossary Shaikhah
King Fahad Specialist Hospital, Dammam, Saudi Arabia.
Case Rep Neurol. 2021 Jun 28;13(2):429-433. doi: 10.1159/000516319. eCollection 2021 May-Aug.
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.
MEGDEL综合征（3-甲基戊二酸（MG）尿症、耳聋、脑病、类 Leigh 综合征）是一种常染色体隐性疾病，与婴儿期低血糖、进行性精神运动发育迟缓、伴有基底神经节病变的小脑萎缩、痉挛、肌张力障碍、耳聋以及短暂性肝脏问题相关，这些症状通常在出生后第一年出现。其他临床表现包括生长发育迟缓、癫痫和视神经萎缩。含丝氨酸活性位点1（SERAC1）突变定位于线粒体相关膜，该膜负责编码一种对线粒体功能和细胞内胆固醇转运至关重要的磷脂酰甘油重塑酶，因此是导致该疾病的原因。通过尿液中3-MG酸和3-甲基戊二酸浓度升高或分子基因检测中双等位基因SERAC1致病变异的鉴定来确诊。迄今为止，在MEGDEL综合征中已鉴定出SERAC1的不同病理变异。在此，我们报告一例因SERAC1突变导致的MEGDEL综合征患儿病例。该患儿通过CT偶然发现双侧对称的前壳核低密度以及尾状核异常。神经系统检查无明显异常。本报告展示了MEGDEL综合征CT检查的一项新的神经影像学发现。
