Ethylmalonic encephalopathy is a rare autosomal recessive mitochondrial disorder caused by pathogenic biallelic variants in the ETHE1 gene. The phenotype of this disease has been attributed to deficiency in the mitochondrial sulfur dioxygenase leading to many downstream effects. Ethylmalonic encephalopathy classically presents with developmental regression, petechiae, acrocyanosis, and chronic diarrhea. The neurologic phenotype includes hypotonia, spastic diplegia, ataxia, and developmental delay. As more patients with this condition are described, the neurologic phenotype continues to expand. Although strokelike episodes or metabolic strokes have been studied in other mitochondrial disorders, they have not been thoroughly reported in this disorder. Herein, we describe 3 patients with ethylmalonic encephalopathy who presented clinically with strokelike episodes and strokelike abnormalities on brain magnetic resonance imaging in the setting of acute illness, and the long-term sequelae with evolution into cystic changes in one of these subjects.

乙基丙二酸脑病是一种罕见的常染色体隐性遗传线粒体疾病，由ETHE1中的致病性双等位基因变异引起基因。这种疾病的表型归因于线粒体硫双加氧酶缺乏导致许多下游效应。乙基丙二酸脑病通常表现为发育倒退、瘀点、肢端发绀和慢性腹泻。神经系统表型包括肌张力减退、痉挛性双瘫、共济失调和发育迟缓。随着更多患有这种疾病的患者被描述，神经系统表型继续扩大。尽管已经在其他线粒体疾病中研究了中风样发作或代谢性中风，但在这种疾病中尚未完全报道它们。在这里，我们描述了 3 例乙基丙二酸脑病患者，他们在急性疾病的情况下临床表现为中风样发作和脑磁共振成像中风样异常，