ACOX1 gain‐of‐function variation in a 10‐years‐old patient responsive to immunomodulating therapy

Author:

Filippi Corinna1ORCID,Brunetti Sara2,Plumari Massimo3,Valente Enza Maria34,Accorsi Patrizia2,Fazzi Elisa Maria12

Affiliation:

1. Department of Clinical and Experimental Sciences University of Brescia Brescia Italy

2. Unit of Child Neurology and Psychiatry ASST Spedali Civili of Brescia Brescia Italy

3. Neurogenetics Research Center IRCCS Mondino Foundation Pavia Italy

4. Department of Molecular Medicine University of Pavia Pavia Italy

Abstract

AbstractA 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.

Publisher

Wiley

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