Abstract：
A heterozygous gain-of-function variant in the acyl-CoA oxidase 1 (ACOX1) gene, c.710A>G (p.Asn237Ser), is known to cause Mitchell syndrome, a very rare progressive disorder characterized by episodic demyelination, sensory polyneuropathy, and hearing loss. Only eight patients have been described so far. A single patient has been treated with intravenous immunoglobulin administration, indicating clinical improvement. In this study, we describe a 10-year-old girl carrying the identical mutation, who presented with progressive sensorineural deafness, visual abnormalities, skin ichthyosis, and gait ataxia from infantile age with progressive worsening and loss of walking ability by the age of 10 years. Antioxidant therapies and monthly intravenous immunoglobulin infusions showed excellent clinical results: after 1 year of treatment, the child is now able to walk, run, and jump. We emphasize the importance of early genetic diagnosis since an effective treatment is available for this rare condition.
摘要：
酰基辅酶A氧化酶1（ACOX1）基因中的杂合功能获得变体，c.710A>G（p。Asn237Ser)，已知会导致米切尔综合症，一种非常罕见的进行性疾病，以偶发性脱髓鞘为特征，感觉多发性神经病,和听力损失。到目前为止，仅描述了8名患者。一名患者接受了静脉注射免疫球蛋白治疗，提示临床改善。在这项研究中,我们描述了一个携带相同突变的10岁女孩，出现进行性感觉神经性耳聋的人，视觉异常,皮肤鱼鳞病,从婴儿年龄开始的步态共济失调，到10岁时逐渐恶化和行走能力丧失。抗氧化治疗和每月静脉注射免疫球蛋白输注显示出优异的临床效果：治疗1年后，孩子现在能走路了，run,和跳跃。我们强调早期基因诊断的重要性，因为这种罕见的疾病有有效的治疗方法。
