Mitochondrial Disease as a Cause of Neonatal Hemophagocytic Lymphohistiocytosis

Diagnosis of mitochondrial respiratory chain disorder (MRCD) is often difficult. Its pathogenesis is still unclear. We diagnosed MRCD by measuring the activity of the mitochondrial respiratory chain enzyme, and the patient also had hemophagocytic lymphohistiocytosis (HLH). A preterm female infant wa...

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Bibliographic Details
Published in:Case reports in pediatrics 2016-01, Vol.2016 (2016), p.1-5
Main Authors: Shimizu, Masaki, Kawabata, Ken, Miyabayashi, Hiroshi, Kanno, Masami, Kubota, Mitsuru, Fuwa, Kazumasa, Kanno, Keiichi
Format: Article
Language:English
Subjects:
Care and treatment
Case Report
Case studies
Children
Children & youth
Complications and side effects
Cytokines
Development and progression
Diseases
Enzymes
Histiocytosis
Hospitals
Laboratories
Mitochondrial diseases
Mitochondrial DNA
Mutation
Pathogenesis
Patients
Pediatrics
Production increases
Tumor necrosis factor-TNF
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Summary:Diagnosis of mitochondrial respiratory chain disorder (MRCD) is often difficult. Its pathogenesis is still unclear. We diagnosed MRCD by measuring the activity of the mitochondrial respiratory chain enzyme, and the patient also had hemophagocytic lymphohistiocytosis (HLH). A preterm female infant was born at 34 weeks of gestation. On day 6, HLH was revealed by bone marrow aspiration. She died on day 10 due to uncontrollable HLH. An autopsy was performed, and we measured the activity of the mitochondrial respiratory chain enzyme in the liver, muscle, and heart. The activity of complex I was decreased in all tissues. As we could not prove another origin of the HLH, she was diagnosed as having HLH caused by MRCD. It is useful to measure the activity of the mitochondrial respiratory chain enzyme for diagnosing MRCD. MRCD, which has a severe clinical course, may be related to HLH.
ISSN:2090-6803
2090-6811
DOI:10.1155/2016/3932646