Abstract：
Ethylmalonic encephalopathy (EE) is a rare, severe, autosomal recessive condition caused by pathogenic variants in ETHE1 leading to progressive encephalopathy, hypotonia evolving to dystonia, petechiae, orthostatic acrocyanosis, diarrhea, and elevated ethylmalonic acid in urine. In this case report, we describe a patient with only mild speech and gross motor delays, subtle biochemical abnormalities, and normal brain imaging found to be homozygous for a pathogenic ETHE1 variant (c.586G>A) via whole exome sequencing. This case highlights the clinical heterogeneity of ETHE1 mutations and the utility of whole-exome sequencing in diagnosing mild cases of EE.
摘要：
乙基丙二酸脑病（EE）是一种罕见的，严重,由ETHE1致病变异引起的常染色体隐性条件导致进行性脑病，张力减退演变为肌张力障碍,瘀斑,立位性突色素沉着症,腹泻,尿液中的乙基丙二酸升高。在这个案例报告中,我们描述了一个只有轻度言语和粗大运动延迟的病人，微妙的生化异常，和通过全外显子组测序发现致病性ETHE1变体（c.586G>A）纯合的正常脑成像。该病例强调了ETHE1突变的临床异质性和全外显子组测序在诊断轻度EE病例中的实用性。
