Case Report

Volume: 8 | Issue: 8 | Published: Aug 26, 2024 | Pages: 177 - 181 | DOI: 10.24911/ejmcr.173-1717254181

What is the impact of an Abnormal pathogenic variant in COQ8A/ CYP17A1 in pediatric patient - A case report


Authors: Bader Basem Alrowaished , Elsayed Ali , Mohammed Saeed Alhejji , Mohammed Sami Albohassen , Ali Mohammed Aldandan


Article Info

Authors

Bader Basem Alrowaished

Department of Neurology, King Fahad Military Medical Complex, Dahran, Saudi Arabia

Elsayed Ali

Department of Neurology, King Fahad Military Medical Complex, Dahran, Saudi Arabia.

Mohammed Saeed Alhejji

Department of Neurology, King Fahad Military Medical Complex, Dahran, Saudi Arabia

Mohammed Sami Albohassen

Department of Neurology, King Fahad Military Medical Complex, Dahran, Saudi Arabia

Ali Mohammed Aldandan

Department of Neurology, King Fahad Military Medical Complex, Dahran, Saudi Arabia.

Publication History

Received: September 22, 2022

Revised: May 19, 2023

Accepted: May 22, 2023

Published: August 26, 2024


Abstract


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.

Keywords: MRI, CSF, CoQ8A, CYP17A1, isolated 17, 20-lyase deficiency, abnormal pathogenic variant, pediatrics, ataxia, developmental delay, green


Pubmed Style

Bader Basem Alrowaished, Elsayed Ali, Mohammed Saeed Alhejji, Mohammed Sami Albohassen, Ali Mohammed Aldandan. What is the impact of an Abnormal pathogenic variant in COQ8A/ CYP17A1 in pediatric patient - A case report. EJMCR. 2024; 26 (August 2024): 177-181. doi:10.24911/ejmcr.173-1717254181

Web Style

Bader Basem Alrowaished, Elsayed Ali, Mohammed Saeed Alhejji, Mohammed Sami Albohassen, Ali Mohammed Aldandan. What is the impact of an Abnormal pathogenic variant in COQ8A/ CYP17A1 in pediatric patient - A case report. https://ejmcr.com/articles/1232 [Access: December 25, 2024]. doi:10.24911/ejmcr.173-1717254181

AMA (American Medical Association) Style

Bader Basem Alrowaished, Elsayed Ali, Mohammed Saeed Alhejji, Mohammed Sami Albohassen, Ali Mohammed Aldandan. What is the impact of an Abnormal pathogenic variant in COQ8A/ CYP17A1 in pediatric patient - A case report. EJMCR. 2024; 26 (August 2024): 177-181. doi:10.24911/ejmcr.173-1717254181

Vancouver/ICMJE Style

Bader Basem Alrowaished, Elsayed Ali, Mohammed Saeed Alhejji, Mohammed Sami Albohassen, Ali Mohammed Aldandan. What is the impact of an Abnormal pathogenic variant in COQ8A/ CYP17A1 in pediatric patient - A case report. EJMCR. (2024), [cited December 25, 2024]; 26 (August 2024): 177-181. doi:10.24911/ejmcr.173-1717254181

Harvard Style

Bader Basem Alrowaished, Elsayed Ali, Mohammed Saeed Alhejji, Mohammed Sami Albohassen, Ali Mohammed Aldandan (2024) What is the impact of an Abnormal pathogenic variant in COQ8A/ CYP17A1 in pediatric patient - A case report. EJMCR, 26 (August 2024): 177-181. doi:10.24911/ejmcr.173-1717254181

Chicago Style

Bader Basem Alrowaished, Elsayed Ali, Mohammed Saeed Alhejji, Mohammed Sami Albohassen, Ali Mohammed Aldandan. "What is the impact of an Abnormal pathogenic variant in COQ8A/ CYP17A1 in pediatric patient - A case report." 26 (2024), 177-181. doi:10.24911/ejmcr.173-1717254181

MLA (The Modern Language Association) Style

Bader Basem Alrowaished, Elsayed Ali, Mohammed Saeed Alhejji, Mohammed Sami Albohassen, Ali Mohammed Aldandan. "What is the impact of an Abnormal pathogenic variant in COQ8A/ CYP17A1 in pediatric patient - A case report." 26.August 2024 (2024), 177-181. Print. doi:10.24911/ejmcr.173-1717254181

APA (American Psychological Association) Style

Bader Basem Alrowaished, Elsayed Ali, Mohammed Saeed Alhejji, Mohammed Sami Albohassen, Ali Mohammed Aldandan (2024) What is the impact of an Abnormal pathogenic variant in COQ8A/ CYP17A1 in pediatric patient - A case report. , 26 (August 2024), 177-181. doi:10.24911/ejmcr.173-1717254181