We report a case of a 7-month-old boy with Short-chain enoyl-CoA hydratase (ECHS1) deficiency concomitant with prominent ketoacidosis, and no elevation in plasma lactate levels. He suddenly became unconscious, after he had a lot of defecation. He was referred to our hospital by a local doctor because of a right conjugate deviation and hypotonia. Initial investigations revealed severe anion gap metabolic acidosis, hyperuricemia, hyperketonemia, and normal lactate levels in the blood and cerebrospinal fluid. Magnetic resonance imaging of the brain showed abnormal signals in the bilateral caudate nucleus and globus pallidus, suggesting the possibility of inborn errors of metabolism. Thus, analysis of acylcarnitine analysis and urine organic acid was performed but could not help diagnose his condition. We then performed mutation analysis using a DNA panel. We found the following heterozygous mutations in ECHS1: c.5C > T (p. Ala2Val) and c.176 A > G (p. Asn59Ser), leading to the diagnosis of Leigh encephalopathy. This case report expands our understanding of the multiple symptoms of ECHS1 deficiency and emphasizes the importance of genetic testing for inborn errors of metabolism, such as ECHS1 deficiency, to initiate early treatment.

我们报告一个病例的一个7个月大的男孩患有短链烯酰辅酶A水合酶（ECHS1）缺乏症，同时伴有明显的酮症酸中毒，血浆乳酸水平没有升高。在排便很多之后，他突然变得失去知觉。由于右共轭偏差和肌张力低下，他被当地医生转介到我们医院。初步调查显示，血液和脑脊液中存在严重的阴离子间隙代谢性酸中毒，高尿酸血症，高酮血症以及正常的乳酸水平。脑部磁共振成像显示双侧尾状核和苍白球异常信号，提示先天性代谢错误。因此，进行了酰基肉碱分析和尿液有机酸分析，但无助于诊断其病情。然后，我们使用DNA面板进行了突变分析。我们发现以下杂合突变ECHS1：c.5C> T（p。Ala2Val）和c.176 A> G（p。Asn59Ser），导致诊断为利氏脑病。该病例报告扩大了我们对ECHS1缺乏症多种症状的理解，并强调了对先天性代谢错误（例如ECHS1缺乏症）进行基因检测以启动早期治疗的重要性。