title: Mitochondrial Disease as a Cause of Neonatal Hemophagocytic Lymphohistiocytosis.
abstract: 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.
authors.affiliation: Division of Neonatology, Saitama Children's Medical Center, 2100 Magome, Iwatsuki-ku, Saitama 339-8551, Japan.
authors.forename: Kazumasa
authors.initials: K
authors.lastname: Fuwa
authors.affiliation: Department of General Pediatrics & Interdisciplinary Medicine, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo 157-8535, Japan.
authors.forename: Mitsuru
authors.identifier: 0000-0002-5395-8226
authors.initials: M
authors.lastname: Kubota
authors.affiliation: Division of Neonatology, Saitama Children's Medical Center, 2100 Magome, Iwatsuki-ku, Saitama 339-8551, Japan.
authors.forename: Masami
authors.initials: M
authors.lastname: Kanno
authors.affiliation: Division of Neonatology, Saitama Children's Medical Center, 2100 Magome, Iwatsuki-ku, Saitama 339-8551, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Miyabayashi
authors.affiliation: Division of Neonatology, Saitama Children's Medical Center, 2100 Magome, Iwatsuki-ku, Saitama 339-8551, Japan.
authors.forename: Ken
authors.initials: K
authors.lastname: Kawabata
authors.affiliation: Division of Neonatology, Saitama Children's Medical Center, 2100 Magome, Iwatsuki-ku, Saitama 339-8551, Japan.
authors.forename: Keiichi
authors.initials: K
authors.lastname: Kanno
authors.affiliation: Division of Neonatology, Saitama Children's Medical Center, 2100 Magome, Iwatsuki-ku, Saitama 339-8551, Japan.
authors.forename: Masaki
authors.initials: M
authors.lastname: Shimizu