Background: Primary coenzyme Q10 deficiency-4 (CoQ10D4) and isolated 17,20-lyase deficiency (ILD) are both distinct and rare congenital mutations. Mutations in the CoQ8A gene are rare and cause CoQ10D4. Patients with pathogenic mutations in the CoQ8A gene exhibit symptoms such as ataxic gait, dystonia, seizures, exercise intolerance, and cognitive disabilities.
Case presentation: The presence of these two mutations in a patient is extremely rare. In this present case report, a 6-year-old identical twin female with CoQ10D4 and ILD began presenting with microcephaly with developmental delay at 4 years of age. She also had regression of milestones (loss of social interaction, grasp, visual interaction, and speech-babbling) without febrile seizures.
Conclusion: This case emphasizes the need for further research to elucidate the underlying mechanisms and potential targeted therapies for these rare genetic disorders, emphasizing the importance of a multidisciplinary approach in providing comprehensive care for affected individuals.
Key words: MRI, CSF, CoQ8A, CYP17A1, isolated 17,20-lyase deficiency, abnormal pathogenic variant, pediatrics, ataxia, developmental delay.
|
