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Adolescence Onset Primary Coenzyme Q10 Deficiency With Rare CoQ8A Gene Mutation: A Case Report and Review of Literature

BACKGROUND: Primary deficiency of coenzyme Q(10) deficiency-4 (CoQ(10)D4) is a heterogeneous disorder affecting different age groups. The main clinical manifestation consists of cerebellar ataxia, exercise intolerance, and dystonia. CASE REPORT: We provide a case of adolescence-onset ataxia, head tr...

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Autores principales: Hojabri, Mahsa, Gilani, Abolfazl, Irilouzadian, Rana, Nejad biglari, Habibe, Sarmadian, Roham
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10354825/
https://www.ncbi.nlm.nih.gov/pubmed/37476682
http://dx.doi.org/10.1177/11795476231188061
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author Hojabri, Mahsa
Gilani, Abolfazl
Irilouzadian, Rana
Nejad biglari, Habibe
Sarmadian, Roham
author_facet Hojabri, Mahsa
Gilani, Abolfazl
Irilouzadian, Rana
Nejad biglari, Habibe
Sarmadian, Roham
author_sort Hojabri, Mahsa
collection PubMed
description BACKGROUND: Primary deficiency of coenzyme Q(10) deficiency-4 (CoQ(10)D4) is a heterogeneous disorder affecting different age groups. The main clinical manifestation consists of cerebellar ataxia, exercise intolerance, and dystonia. CASE REPORT: We provide a case of adolescence-onset ataxia, head tremor, and proximal muscle weakness accompanied by psychiatric features and abnormal serum urea (49.4 mg/dL), lactate (7.5 mmol/L), and CoQ10 level (0.4 µg/mL). Brain-MRI demonstrated cerebellar atrophy, thinning of the corpus callosum, and loss of white matter. Whole exome sequencing showed a homozygous missense mutation (c.911C>T; p.A304V) in CoQ8A gene which is a rare mutation and responsible variant of CoQ(10)D4. After supplementary treatment with CoQ(10) 50 mg/twice a day for 2 months the clinical symptoms improved. CONCLUSION: These observations highlight the significance of the early diagnosis of potentially treatable CoQ8A mutation as well as patient education and follow-up. Our findings widen the spectrum of CoQ8A phenotypic features so that clinicians be familiar with the disease not only in severe childhood-onset ataxia but also in adolescence with accompanying psychiatric problems.
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spelling pubmed-103548252023-07-20 Adolescence Onset Primary Coenzyme Q10 Deficiency With Rare CoQ8A Gene Mutation: A Case Report and Review of Literature Hojabri, Mahsa Gilani, Abolfazl Irilouzadian, Rana Nejad biglari, Habibe Sarmadian, Roham Clin Med Insights Case Rep Case Report BACKGROUND: Primary deficiency of coenzyme Q(10) deficiency-4 (CoQ(10)D4) is a heterogeneous disorder affecting different age groups. The main clinical manifestation consists of cerebellar ataxia, exercise intolerance, and dystonia. CASE REPORT: We provide a case of adolescence-onset ataxia, head tremor, and proximal muscle weakness accompanied by psychiatric features and abnormal serum urea (49.4 mg/dL), lactate (7.5 mmol/L), and CoQ10 level (0.4 µg/mL). Brain-MRI demonstrated cerebellar atrophy, thinning of the corpus callosum, and loss of white matter. Whole exome sequencing showed a homozygous missense mutation (c.911C>T; p.A304V) in CoQ8A gene which is a rare mutation and responsible variant of CoQ(10)D4. After supplementary treatment with CoQ(10) 50 mg/twice a day for 2 months the clinical symptoms improved. CONCLUSION: These observations highlight the significance of the early diagnosis of potentially treatable CoQ8A mutation as well as patient education and follow-up. Our findings widen the spectrum of CoQ8A phenotypic features so that clinicians be familiar with the disease not only in severe childhood-onset ataxia but also in adolescence with accompanying psychiatric problems. SAGE Publications 2023-07-18 /pmc/articles/PMC10354825/ /pubmed/37476682 http://dx.doi.org/10.1177/11795476231188061 Text en © The Author(s) 2023 https://creativecommons.org/licenses/by-nc/4.0/This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access page (https://us.sagepub.com/en-us/nam/open-access-at-sage).
spellingShingle Case Report
Hojabri, Mahsa
Gilani, Abolfazl
Irilouzadian, Rana
Nejad biglari, Habibe
Sarmadian, Roham
Adolescence Onset Primary Coenzyme Q10 Deficiency With Rare CoQ8A Gene Mutation: A Case Report and Review of Literature
title Adolescence Onset Primary Coenzyme Q10 Deficiency With Rare CoQ8A Gene Mutation: A Case Report and Review of Literature
title_full Adolescence Onset Primary Coenzyme Q10 Deficiency With Rare CoQ8A Gene Mutation: A Case Report and Review of Literature
title_fullStr Adolescence Onset Primary Coenzyme Q10 Deficiency With Rare CoQ8A Gene Mutation: A Case Report and Review of Literature
title_full_unstemmed Adolescence Onset Primary Coenzyme Q10 Deficiency With Rare CoQ8A Gene Mutation: A Case Report and Review of Literature
title_short Adolescence Onset Primary Coenzyme Q10 Deficiency With Rare CoQ8A Gene Mutation: A Case Report and Review of Literature
title_sort adolescence onset primary coenzyme q10 deficiency with rare coq8a gene mutation: a case report and review of literature
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10354825/
https://www.ncbi.nlm.nih.gov/pubmed/37476682
http://dx.doi.org/10.1177/11795476231188061
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