A de novo heterozygous variant in ACOX1 gene cause Mitchell syndrome: the first case in China and literature review

BACKGROUND: Mitchell syndrome (MITCH) is a rare autosomal dominant hereditary disorder, characterized by episodic demyelination, sensorimotor polyneuropathy and hearing loss. MITCH is caused by heterozygous mutation in the ACOX1 gene, which encodes straight-chain acyl-CoA oxidase, on chromosome 17q25.1. Only 5 unrelated patients have been reported so far, and no reports from China. Here, we describe the first MITCH case in a Chinese individual. CASE PRESENTATION: A 7-year-old girl initially presented with diffuse desquamatory rash at age 3. Her clinical symptoms in order of presentation were diffuse desquamatory rash, gait instability, ptosis with photophobia, hearing loss, abdominal pain, diarrhea, nausea, and dysuria. Genetic analysis demonstrated that the patient carried a heterozygous variant c.710A>G(p.Asp237Ser) in the ACOX1 gene, which can cause MITCH symptoms. This is the first MITCH case with gastrointestinal and urinary tract symptoms. After administrating N acetylcysteine amide (NACA), some symptoms were relieved and the patient’s condition improved. CONCLUSION: This is the first MITCH case in the Chinese population, and we expanded the genotype spectrum of it. The p.Asp237Ser may be a mutational hotspot in ACOX1 regardless of race. In terms of diagnosis, patients with recurrent rash, gait instability, and hearing loss with some autonomic symptoms should raise the suspicion of MITCH and proper and prompt treatment should be given. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1186/s12920-023-01577-w.