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

Autor: Mahsa Hojabri, Abolfazl Gilani, Rana Irilouzadian, Habibe Nejad biglari, Roham Sarmadian
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: Clinical Medicine Insights: Case Reports, Vol 16 (2023)
Druh dokumentu: article
ISSN: 1179-5476
11795476
DOI: 10.1177/11795476231188061
Popis: 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.
Databáze: Directory of Open Access Journals
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