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ACOX1 gain-of-function variation in a 10-years-old patient responsive to immunomodulating therapy
Corinna Filippi1, Sara Brunetti2, Massimo Plumari3
1Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
American Journal of Medical Genetics. Part A
|June 26, 2024
Summary
Mitchell syndrome, a rare genetic disorder caused by an ACOX1 gene variant, can be effectively treated. Early diagnosis and therapies including intravenous immunoglobulin led to significant recovery in a young patient.
Area of Science:
- Genetics
- Neurology
- Metabolic Disorders
Background:
- Mitchell syndrome is a rare progressive disorder caused by a heterozygous gain-of-function variant in the acyl-CoA oxidase 1 (ACOX1) gene.
- Characterized by episodic demyelination, sensory polyneuropathy, and hearing loss, only eight cases have been previously documented.
Observation:
- A 10-year-old girl with the identical ACOX1 mutation (c.710A>G, p.Asn237Ser) presented with progressive sensorineural deafness, visual abnormalities, ichthyosis, and gait ataxia.
- The patient lost ambulation by age 10 due to disease progression.
Findings:
- Combined antioxidant therapies and monthly intravenous immunoglobulin infusions resulted in remarkable clinical improvement.
- After one year of treatment, the patient regained the ability to walk, run, and jump.
Implications:
- This case highlights the potential efficacy of early intervention for Mitchell syndrome.
- Emphasizes the critical role of prompt genetic diagnosis for accessing available treatments and improving patient outcomes in rare genetic disorders.
Keywords:
Mitchell syndromeacyl‐CoA oxidase 1ataxianeurodegenerative encephalomyelopathyprogressive polyneuropathysensorineural deafnessMore Related Videos
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