Case Report
Volume: 2 | Issue: 1 | Published: Jan 01, 2019 | Pages: 81 - 84 | DOI: 10.24911/JBCGenetics/183-1543238438
Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis
Authors: Mazhor Aldosary , Maha Al-Otaibi , Fatima Al-Fadhli , Namik Kaya , Raashda Sulaiman , Mohammed Al-Owain
Article Info
Authors
Mazhor Aldosary
Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
Maha Al-Otaibi
Department of Pediatrics, King Saud Medical City, Riyadh, Saudi Arabia
Fatima Al-Fadhli
Department of Pediatrics, Maternity and Children Hospital, Madinah, Saudi Arabia
Namik Kaya
Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
Raashda Sulaiman
Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
Mohammed Al-Owain
Department of Medical Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia
Publication History
Received: November 28, 2018
Revised: January 23, 2019
Accepted: January 25, 2019
Published: January 01, 2019
Abstract
Background: Hemophagocytic lymphohistiocytosis (HLH) is a hyper-inflammatory condition resulting from altered crosstalk between innate and adaptive immune responses. Familial HLH is caused by mutations in several genes whereas the acquired form is associated with infections, rheumatic diseases, malignancies, and inherited metabolic disorders. Case Presentation: We report an infant boy who developed HLH and the potential involvement of mitochondrial DNA in pathogenicity. This patient was with evidence of mitochondrial disease based on neonatal-onset lactic acidosis, elevated lactate in cerebrospinal fluid, a significant lactate peak on magnetic resonance spectroscopy, and generalized reduction of multiple respiratory chain enzyme complex activities. In addition, full mitochondrial genome sequencing only revealed the identification of the homoplasmic m.4325A>G mutation. Subsequently, he presented with a febrile illness complicated by HLH. Conclusion: Elevated levels of lactic acidosis and mitochondrial dysfunction strengthen the involvement of mitochondria in causing secondary HLH in our patient.
Keywords: Hemophagocytic lymphohistiocytosis, mitochondrial dysfunction, inherited metabolic
Pubmed Style
Mazhor Aldosary, Maha Al-Otaibi, Fatima Al-Fadhli, Namik Kaya, Raashda Sulaiman, Mohammed Al-Owain. Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis. JBC Genetics. 2019; 01 (January 2019): 81-84. doi:10.24911/JBCGenetics/183-1543238438
Web Style
Mazhor Aldosary, Maha Al-Otaibi, Fatima Al-Fadhli, Namik Kaya, Raashda Sulaiman, Mohammed Al-Owain. Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis. https://www.jbcgenetics.com/index.php/articles/2175 [Access: April 27, 2025]. doi:10.24911/JBCGenetics/183-1543238438
AMA (American Medical Association) Style
Mazhor Aldosary, Maha Al-Otaibi, Fatima Al-Fadhli, Namik Kaya, Raashda Sulaiman, Mohammed Al-Owain. Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis. JBC Genetics. 2019; 01 (January 2019): 81-84. doi:10.24911/JBCGenetics/183-1543238438
Vancouver/ICMJE Style
Mazhor Aldosary, Maha Al-Otaibi, Fatima Al-Fadhli, Namik Kaya, Raashda Sulaiman, Mohammed Al-Owain. Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis. JBC Genetics. (2019), [cited April 27, 2025]; 01 (January 2019): 81-84. doi:10.24911/JBCGenetics/183-1543238438
Harvard Style
Mazhor Aldosary, Maha Al-Otaibi, Fatima Al-Fadhli, Namik Kaya, Raashda Sulaiman, Mohammed Al-Owain (2019) Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis. JBC Genetics, 01 (January 2019): 81-84. doi:10.24911/JBCGenetics/183-1543238438
Chicago Style
Mazhor Aldosary, Maha Al-Otaibi, Fatima Al-Fadhli, Namik Kaya, Raashda Sulaiman, Mohammed Al-Owain. "Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis." 01 (2019), 81-84. doi:10.24911/JBCGenetics/183-1543238438
MLA (The Modern Language Association) Style
Mazhor Aldosary, Maha Al-Otaibi, Fatima Al-Fadhli, Namik Kaya, Raashda Sulaiman, Mohammed Al-Owain. "Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis." 01.January 2019 (2019), 81-84. Print. doi:10.24911/JBCGenetics/183-1543238438
APA (American Psychological Association) Style
Mazhor Aldosary, Maha Al-Otaibi, Fatima Al-Fadhli, Namik Kaya, Raashda Sulaiman, Mohammed Al-Owain (2019) Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis. , 01 (January 2019), 81-84. doi:10.24911/JBCGenetics/183-1543238438