• Haiyan Yang, Sai Yang, Qingyun Kang, Liming Yang, Hongmei Liao, and Liwen Wu.
• Department of Neurology, Hunan Children's Hospital, P.R. China.
• Medicine (Baltimore). 2021 Sep 17; 100 (37): e27208.

RationaleMutations of the MORC2 gene have most commonly been associated with autosomal-dominant Charcot-Marie-Tooth disease type 2Z (CMT 2Z), while the impact of MORC2 mutations in CMT 2Z on neuronal biology and their phenotypic consequences in patients remain to be clarified.Patient ConcernsWe reported a 27-month-old child with a developmental lag of more than 1 year. He had progressive fatigue for 4 months, accompanied by dysphagia, choking while eating, and progressive aggravation. A genetic study revealed a de novo variant of MORC2, which has not yet been reported.DiagnosisAccording to the child's clinical manifestations, genetic pattern, and American College of Medical Genetics and Genomics pathogenicity analysis, the patient was diagnosed with CMT 2Z caused by MORC2 gene mutation.InterventionsMitochondrial cocktail therapy (arginine, vitamin B1 tablets, vitamin B2 tablets, coenzyme Q10 capsules, L-carnitine oral liquid, idebenone tablets, etc) was given.OutcomesMitochondrial cocktail therapy did not significantly improve the child's condition, head magnetic resonance imaging lesions were not significantly improved at outpatient follow-up more than 1 month later, and the lesions were basically unchanged.LessonsThe clinical manifestations of the disease were similar to those of Leigh syndrome, and they were not significantly improved by cocktail therapy. This site has not been reported in the literature domestically or abroad, and the pathogenesis of CMT 2Z caused by this site mutation is indeed not related to mitochondrial dysfunction. Our study is helpful for clinicians with regard to the differential diagnosis of Leigh syndrome and CMT 2Z and improvement of clinicians' understanding of CMT 2Z disease.Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.

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