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